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Showing papers on "Genetic testing published in 2021"

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• Open access
• Published: 23 November 2021

Genetic/genomic testing: defining the parameters for ethical, legal and social implications (ELSI)

• Tania Ascencio-Carbajal 1 ,
• Garbiñe Saruwatari-Zavala 3 ,
• Fernando Navarro-Garcia 1 , 2 &
• Eugenio Frixione 1 , 2  

BMC Medical Ethics volume  22 , Article number:  156 ( 2021 ) Cite this article

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Genetic/genomic testing (GGT) are useful tools for improving health and preventing diseases. Still, since GGT deals with sensitive personal information that could significantly impact a patient’s life or that of their family, it becomes imperative to consider Ethical, Legal and Social Implications (ELSI). Thus, ELSI studies aim to identify and address concerns raised by genomic research that could affect individuals, their family, and society. However, there are quantitative and qualitative discrepancies in the literature to describe the elements that provide content to the ELSI studies and such problems may result in patient misinformation and harmful choices.

We analyzed the major international documents published by international organizations to specify the parameters that define ELSI and the recognized criteria for GGT, which may prove useful for researchers, health professionals and policymakers. First, we defined the parameters of the ethical, legal and social fields in GGT to avoid ambiguities when using the acronym ELSI. Then, we selected nine documents from 44 relevant publications by international organizations related to genomic medicine.

We identified 29 ELSI sub-criteria concerning to GGT, which were organized and grouped within 10 minimum criteria: two from the ethical field, four from the legal field and four from the social field. An additional analysis of the number of appearances of these 29 sub-criteria in the analyzed documents allowed us to order them and to determine 7 priority criteria for starting to evaluate and propose national regulations for GGT.

Conclusions

We propose that the ELSI criteria identified herein could serve as a starting point to formulate national regulation on personalized genomic medicine, ensuring consistency with international bioethical requirements.

Peer Review reports

Genetic/genomic testing (GGT) refers to complementary tools used for improving health and preventing diseases. Genetic testing detects specific mutations in the genome of a patient for identifying monogenic diseases. In contrast, genomic testing detects risk factors and predisposition to diseases involving more than one gene [ 1 ]. Thus, GGT can identify features in the DNA of a patient that may affect her/his health, helping physicians to (a) prevent or at least delay the appearance of resulting illnesses, (b) estimate disease risk for family members, and (c) avoid the risk of transmitting those risks to descendants [ 2 , 3 ]. Since GGT deals with such sensitive personal information, which could significantly impact the life of a patient or their families, it becomes imperative taking into account ethical, legal, and social considerations when practicing it [ 4 ]. Key considerations are still not entirely well defined.

In order to address these issues, Ethical, Legal, and Social Implications (ELSI) studies were formally started in 1990 as part of the Human Genome Project, with an aim at identifying and confronting the troubles posed by genomic research that could affect individuals, their family members and eventually society at large. ELSI studies are today an interdisciplinary research area in constant evolution and expansion, currently embracing much more than intended at its beginnings 30 years ago. The complex connections among ethical, legal and social studies have resulted in the term ELSI being commonly understood as an integral set instead of an aggregate of independent elements, thus turning it into a somewhat fuzzy entity [ 5 ]. Additionally, there are quantitative and qualitative discrepancies in the literature when describing the elements that provide content to each field of ELSI studies regarding to genomic and genetic testing as well as public health on genomics and genetics [ 4 , 6 , 7 ]. These discrepancies are also notice in international documents published by international organizations. There is no clear distinction as to whether the elements of study addressed belong to the ethical, legal or social field; sometimes they are only cited as ELSI [ 8 , 9 , 10 ], or they are referred to only as ethical principles although they include the legal and social field [ 11 , 12 ]. In addition, there are differences in how many and which ELSI criteria they belong [ 8 , 13 ]. This lack of agreement in the elements that define ELSI, as well as in the criteria linked to the information that arises from the practice of GGT, can generate confusion in policy and decision makers, who may lose sight of the relevance or even the urgency of addressing certain issues, leading to difficulties in developing regulations with international equivalences regarding the use of genomic technology and hindering international scientific cooperation. These inaccurate policies and decisions may end up affecting the rights of patients (i.e. government decisions for implementing and expanding newborn screening programs that impact on children rights to health [ 14 ]). In some cases, autonomy may be affected, such as the case of the Havasupai Indian Tribe where the right to informed consent and to know or not the results of the tests was violated [ 15 ]. As well as lead patients to make harmful health choices (i.e. patients who do not seek prompt treatment due to a false negative result on direct-to-consumer testing (DTC) for the detection of the BRCA gene [ 16 ]. In addition, the lack of agreement on privacy issues may open the field to (a) leave personal genetic data of users unprotected, and therefore exposed to violation of their privacy and that of their families; and (b) misuse of the genomic information of a person by third parties with economic, health or discrimination consequences, among other hazards [ 6 , 17 , 18 ].

There have been significant efforts to address these issues [ 10 , 19 , 20 , 21 , 22 ]. However, some of them have been biased towards the clinical research part, setting aside other essential ELSI criteria for GGT such as those of commercialization and health regulation criteria, making it difficult to define parameters to include particular aspects for GGT within the concepts of ELSI. Consequently, quantitative and qualitative inconsistencies remain in the official and research literatures, which hamper a uniform description of the elements that provide content to each ELSI study field and ELSI criteria. In this work, we focus on defining the ethical, legal and social implications (ELSI) for genetic/genomic testing (GGT), but to achieve this goal, we first specified the parameters that define the ELSI fields. This main goal was achieved through an analysis of the major international documents on genomic medicine published by international organizations. Our analysis and the data generated may be useful for researchers, healthcare professionals and policymakers as an unbiased, synthesized, comprehensive view of relevant ELSI topics.

In general, this study is limited to the ELSI aspects linked to GGT tests being carried out for disease detection or estimating the risk of developing one in adults with full consent capacity. In order to find out what exactly are the parameters that define ELSI criteria associated with GGT, we analyzed the documents published by international organizations related to ELSI subjects by following an adapted version of the steps recommended by Strech and Sofaer regarding a systematic review of reason [ 23 ], see also Fig.  1 . This is because according to Boyle 1999, international documents are guides that help countries to regulate their own practices within, in this way soft law allows to create non-binding guidelines that becomes national binding regulations [ 24 ]. Additionally, in this work, we use the word "documents" in a sense that encompasses both instruments (binding for the signatory countries and non-binding) as well as recommendations made by panels of experts coordinated by international organizations. Thus, the international documents related to ELSI were subjected to the Strech and Sofaer systematic review based on four steps: (1) formulation of the review question and eligibility criteria, (2) selection of all the documents that applies to the criteria, (3) extraction and synthesis of information, (4) presenting the results with an answer to the review question.

Flow diagram for selecting GGT-related content in databases of major international ELSI documents

The study question was defined as: What are the main ELSI criteria which international organizations have demanded for GGT over the last thirty years? Eligibility criteria were set as: documents published by international organization in the last 30 years, related to GGT tests for detection or estimating risk of diseases in adults with full consent capacity. To address the second step of the systematic review, we carried out a systematic search in databases of the major international organizations related to genomic medicine, mainly focusing on guidelines that could work for different countries rather than on particularities, according to Boyle (1999) as mentioned above. To identify the international documents concerning GGT, we carried out a systematic search of the terms “genomic medicine," "genetic testing" and "human rights and health" in databases of the major international organizations related to genomic medicine: World Health Organization (WHO), World Medical Association (WMA), Organization for Economic Co-operation and Development (OECD), United Nations Educational, Scientific and Cultural Organization (UNESCO), and Council of Europe. After several testing, these general key words were selected in order to minimize the exclusion of relevant documents, and for covering as much as possible by minimizing the bias that would leave some documents out. Next, the records of 30 years to date related to genomic medicine for health purposes in adults with full consent capacity were selected. Figure  1 shows the flow diagram for the identification of literature about ELSI of GGT and the result of it according to page et al. [ 25 ].

For the third step on extraction and synthesis of information, we carried out a systematic and detailed scrutiny of the identified documents. Each entire document was read to identify core concepts that met eligibility criteria in each article or statement. Final core concepts identified were reviewed, agreed and approved by all authors (differences were settled by majority): informed consent, non-discrimination, counseling, privacy and confidentiality issues, regulation, equity and accessibility, quality, trained medical personnel. A subsequent screening was performed to identify ideas associated with core concepts by either textual content or semantic ideas, and wrote it down as a "criterion" in a list. Finally, for the fourth step, these criteria were grouped by thematic affinity and thus defined as criteria and sub-criteria. Then these criteria and sub-criteria were assigned, by common agreement between authors, to the corresponding ETHICAL, LEGAL and SOCIAL field according to the definitions for fields indicated below.

Primary criteria in terms of coverage priority were then selected to be considered in regulations oriented to protecting all personal genetic information and rights. Finally, all data are discussed from present and future perspectives.

Defining ELSI parameters

Defining the parameters for the ethical, legal and social fields is essential to avoid ambiguities when using the acronym ELSI. In order to address GGT criteria, first the ELSI fields were clarified. Although exist different definitions to differentiate ELSI fields [ 20 , 26 ], we build along “ethical, legal and social issues in science and technology” guidelines proposed by Chameau et al. [ 27 ], because they clearly identify and separate ethical, legal and social fields. In addition, human rights themselves set guidelines on ethical principles for treating persons and therefore a minimum of universal standards for rights of patients [ 28 ]. Among universal ethical principles, those established by Beauchamp and Childress [ 29 ] (beneficence, non-maleficence, autonomy and justice) have resulted in a common framework for medical practice [ 30 ]. WHO has also developed guidelines for GGT services related to these principles [ 11 ], which were also used in this work to adapt bioethical principles to GGT.

Accordingly, ETHICAL criteria were defined as those based on the bioethical principles of beneficence, non-maleficence and autonomy [ 29 ], including those criteria that refer to respect for human rights and dignity. Within the LEGAL field we considered criteria that provide guidelines to regulate the activities of the parties involved in GGT, particularly those that entail authority, limits and procedures for decision-making—what is decided, who decides, and how is decided—, so as to guarantee rights protection of those involved. Finally, SOCIAL criteria were defined as those referring to the principle of justice, understood as distributive justice based on what would be desirable to achieve in an equitably just society. Therefore, we have included criteria focused on activities that allow access to genomic medicine services and communication, as well as dissemination of information to different spheres of society.

Thus, whole scheme with each field that makes up ELSI and the connections between fields, is illustrated synoptically in Fig.  2 .

ELSI concept fields and their interconnections. The ETHICAL field is located at the top as mainstay for the rest of the fields—LEGAL, SOCIAL and future (+)—, which are placed in a lower hierarchical order. The interconnections between fields and the fuzzy limits among them are also represented

In conceptualizing the definitions of ELSI fields to build Fig.  2 , we realized the ETHICAL field encompasses respect for human rights and prevails over all scientific or economic interests, acting as the pillar for the rest of the fields since it connects vertically and transversally with all of them; therefore, it is placed at the head of the scheme and enclosed within a continuous line box. After all, the main topic on GGT testing are based on universal principles inherent to the patient as a human being. Subsequently, we placed in a lower hierarchical order the legal and social fields, plus an unnamed field labeled with the " + " sign in anticipation of future inclusion of additional fields to the ELSI studies. All fields are delimited by dotted-line boxes to indicate fuzzy boundaries between them, as it is common for their topics of interest to overlap. Bidirectional arrows indicate reciprocal connections between all fields since there are always relationships between them, for a particular criterion usually covers two or more fields and can hardly be studied in isolation. As noted in Fig.  2 there is substantial synergy between all components of ELSI, though it was possible to disintegrate the whole scheme into its individual parts—ETHICAL, LEGAL and SOCIAL fields. This configuration allows giving specific content to each of them and setting their respective parameters, while permitting addition of future elements in an orderly manner, so it helped to proceed with the rest of the study in an easier and more organized way.

Results and discussion

Elsi criteria on genetic-genomic testing in bioethical international documents.

A first general screening for the last 30-years period yielded a total of forty-four relevant sources, which once screened by recent publication dates and content close to GGT in terms of ethical, legal and social issues allowed us a final selection of nine documents for further detailed analysis (Table 1 ).

Other documents served as precedents since they also address bioethical issues related to human genetics, such as Nuremberg Code (1947) [ 31 , 32 ], Helsinki Declaration (1964) [ 33 ], Asilomar Conference on the Risks of Recombinant DNA (1975) [ 34 ], Belmont Report (1978) [ 35 ], Declaration of Lisbon on the Rights of the Patient (1981) [ 36 ], Report of the Nuffield Council on the ethical issues of genetic screening (1993) [ 37 ], Genomics and World Health (2002) [ 19 ], Declaration on Bioethics and Human Rights (2005) [ 38 ], among others. These documents are important in their own fields and historical moments but were not included in this study because they are already considered in the main updated texts finally selected. Although these international documents include other branches of genomic medicine—like research, cloning, genetic editing, etc.—, we focus on the closest for addressing specifically the ELSI aspects of GGT.

We identified documents of two types, international instruments and international recommendations. International non-binding instruments, like UDHG (General Conference, 29th, 1997) and HGD (General Conference, 32nd, 2003), were approved by a majority at general conferences of UNESCO and therefore are not signed by member countries. For OC and APOC, they become binding instruments for signatories’ countries. Recommendations documents were prepared by international panels of experts and coordinated by the international organizations (documents REI, DR, MGS, GQA, IBC) thus they are not signed or approved by countries. Most selected documents show a supreme interest in the prevalence of ethical aspects, i.e., safeguarding human rights and dignity above any other economic, social, commercial or research interests (as we will demonstrate below in a further analysis). And, although they share specific criteria in relation to ELSI issues, there are differences on which of these should apply to GGT, as well as in their depth. The following particularities merit special attention in chronological order:

The UNESCO 1997 Universal Declaration on the Human Genome and Human Rights (UDHG) [ 39 ] is considered the cornerstone in the international legal framework of ethical principles for genomic medicine and has served as the basis for all subsequent documents on this matter. It emphasizes the supreme interest of human rights, dignity and fundamental freedom over any other interest.

The Oviedo Convention (OC) [ 40 ] held that same year is the first internationally binding document for the countries that sign up and ratify it. To date, only 29 countries have done so [ 41 ]. It expands the principles of the UDGH on which it is based, specifying criteria on research topics, “Informed consent,” and “Genetic counseling”, also promoting the use of genetic tests exclusively for health purposes.

The Review of Ethical Aspects in Genetic Medicine (REI) [ 11 ], published by WHO in 2003, is based—like the present study—on the four principles of bioethics proposed by Beauchamp and Childress in 1979 (autonomy, beneficence, non-maleficence and justice). It takes these into the context of the ethical principles involved in genetic health care services for different patient groups, and of the technological applications it addresses. Focusing on the medical provider-patient relationship, it delves into the desired characteristics of informed consent and advice from health personnel to the patient. This document sets public education as a critical factor in the development of genetic services, considering social factors such as the response of diagnosed people and the social attitudes in different groups, with descriptions of advantages, risks and circumstances recommended to perform GGT.

The International Declaration on Human Genetic Data (HGD) [ 42 ], published by UNESCO in 2003, establishes the principles for collecting, processing, using and storing human genetic and protein data, and the biological samples from which such data originate. Although it is aimed at medical and scientific research, its principles are extended also to other service areas of genomic medicine, including cross-data topics as well as their eventual destruction of biological samples, physical and electronical records of human genetic data. In addition, it establishes the need to create regulations and urges countries to work on them for regulating cross-border transfer of human genetic data, proteomic data and biological samples, in order to promote international medical and scientific cooperation and guarantee equitable access to such data.

The Declaration of Reykjavik (DR) on Genetics and Medicine [ 12 ], published by the World Medical Association originally in 2005 and updated by the end of 2019, covers the ethical aspects of medical practice in research and clinical practice. It approaches GGT from the perspective of responsibility of physicians in the previous and later stages of interpreting results, including a section on unexpected findings, elaborating on the contents of genetic counseling with details on the characteristics that preparation of health care professionals should comprise to assure a broad informed consent.

The 2006 WHO report on Medical Genetic Services in Developing Countries (MGS) [ 8 ] covers the ethical, legal and social implications of genetic testing and screening. It is a comprehensive document with a greater focus on the subjects of interest. It highlights the principle of distributive justice and includes social issues which block genetic medicine services in developing countries. It recognizes the importance of protecting the privacy and confidentiality of genetic data to avoid discrimination and stigmatization in society, underlying the importance and priority of education and open dialogue about genetic medicine for the benefit of both society and the patient. Hence, it encourages actions that facilitate decision-making, such as counseling and the creation of patient-support organizations. It further analyzes the safety and well-being of the patient through quality assurance in products and services, particularly by strengthening regulations on those related to genetic matters. Finally, recommendations are issued to improve the ELSI criteria for genomic medicine in developing countries.

The Guidelines for Quality Assurance in Molecular Genetic Testing (GQA) [ 43 ], published by the OECD in 2007, promote a minimum of international standards for ensuring the quality of practices in molecular genetic testing laboratories, through compliance with the international quality standards ISO 17025 [ 44 ] for laboratory accreditation, testing and calibration, as well as with the ISO 15189 [ 45 ] standards for medical laboratories. In addition, this document encourages international cooperation and increases confidence of society in the governance of molecular genetic testing, laboratory surveillance, traceability of results, quality in reporting of results, and addresses the issue of cross-border exchange of samples and information.

The 2008 Additional Protocol to the Oviedo Convention on Genetic Testing for Health Purposes (APOC) [ 22 ] delves deeper than the original into the ethical and social principles of genetic testing. It provides more detail on sample types, communication of risk to family members, non-directive genetic counseling, quality of services, consent for people who cannot do it themselves, and respect for the user's private life. Currently, only six countries have signed and ratified this additional protocol [ 46 ].

The most comprehensive publication so far is that of UNESCO International Bioethics Committee of 2015 (IBC). In its Reflections on Human Genome and Human Rights [ 21 ], the document identifies five main ethical principles and social challenges: (a) respect for autonomy and privacy; (b) justice and solidarity; (c) understanding of health and disease; (d) cultural, social and economic context of science; and (e) responsibility for future generations. It exposes select topics of recently developed applications of genomic medicine, such as direct-to-consumer testing and personalized and precision medicine, assigning responsibility to the parties involved: countries, researchers, academics, physicians, regulators, for-profit companies and media, addressing also concerns about distributive justice and international solidarity. This is the more informative document presently available on the bioethics of genomic medicine with an interdisciplinary outlook.

The nine documents above vary in terms of their overall perspectives and approaches, depending on the respective publishing organization or entity, but a few main themes are prevalent in some of them: (a) clinical care and doctor-patient relationship (OC, REI, DR); (b) protection of patient rights through quality services (HGD, GQA); (c) review of interdisciplinary ELSI issues (MGS, IBC). The UDHG and the OC published in 1997 responded to international concerns about the applications of scientific and technological advances in relation to human health. Both documents focus on the protection of human rights and dignity during clinical research, so they concentrate on the ETHICAL field of ELSI and only superficially touch on the SOCIAL and LEGAL fields. In contrast, the 2015 IBC document deals mostly on ELSI criteria for GGT, going beyond the ethical aspect of rights protection and into the legal and social aspects of the commercialization of GGT technologies. It covers the protection of rights for patients as required by the ethical aspect but proceeds to assessing explicit legal responsibilities by each of the participants. In exploring the social aspect, IBC encompasses activities to ensure vertical and horizontal flow of information about GGT, and the distributive justice condition of securing access to services and international collaboration. It is clear, therefore, that progressive development has occurred from the first documents in the late 1990s, concerned mainly with ethical aspects for protection of rights for patients in research involving human beings, to more recent documents where the topics of technology applications and commercialization of products and services have become steadily included from about 2020.

This same progressiveness, moving from the protection of human rights in research to concerns about the use and commercialization of technology, is observed with the emergence of transnational ELSI programs. The first programs to study ELSI aspects of the human genome, such as the National Human Genome Research Institute of the United States in 1990 [ 47 ], pursued ethical and legal aspects focused on research. In turn, the programs emerged later were directed to multidisciplinary topics such as (a) programs focused on supporting public policy development and decision making: the "GE3LS" program of the Government of Canada in 2000 [ 48 ], the “p3G2" program of McGill University in 2004 [ 49 ]; (b) oriented to international scientific cooperation for research in genomics and society: the program "ELSI2.0" in 2012 [ 50 ]; and finally (c) focused on data sharing: the program "GA4GH" in 2013 [ 51 ]. All of these programs denote the change in interest about human genome studies, from just individual and family rights protection up to exploring many other issues in technology application to human health, stressing the need of creating regulations that guarantee the protection of genetic data and promote international medical and scientific cooperation.

Since no document covers all ELSI criteria by itself, nor they provide similar coverage of GGT, it seemed appropriate to select several documents and analyze them in depth so as to appreciate the fullness of the ELSI criteria related to GGT, for finally integrating these into a single extract as follows below.

Ethical, legal, and social criteria for genetic/genomic testing

As shown in Table 2 , 29 ELSI sub-criteria related to GGT were identified, which could be then organized and grouped into ten basic criteria: two in the ETHICAL field, four in the LEGAL field, and four in the SOCIAL field.

The ETHICAL field was confirmed as the support for all the analyzed documents, since all three present fields note the importance of protecting human rights and dignity as prime ethical criteria, which in turn affect the legal and social spheres. Here are found criteria such as "Patient Rights" and "Non-discrimination," which correspond to the bioethical principles of beneficence, autonomy, and non-maleficence. The "Patient Rights" criterion groups together those related to undergoing a GGT test and are valid from the moment the patient arrives at a health institute, whether public or private, until the results are safeguarded indefinitely in the files of the responsible laboratories or destroyed, depending on the specific situation. The criterion of "Non-discrimination" refers to the patients right to be treated equally inside and outside the health institution, regardless of the results of their genetic/genomic analyses as stated in the Report of the International Bioethics Committee on the Principle of Non-discrimination and Non-stigmatization [ 52 ]. It comprises three sub-criteria: (a) “Avoidance of reductionism” on the overestimation of genetic influence and underestimation of behavioral, psychosocial and environmental factors; (b) “Genetic exceptionalism” refers to the special handling of genetic data given its nature of providing information on the current or future state of health the person, their family and may also have cultural significance; (c) “Avoid stigmatization” of a person because of a test result for him or her, the family, group or community. The “Non-discrimination” criterion is recognized as a fundamental right of patients and is the most referenced in the documents here analyzed, so we divided it into three sub-criteria (Table 2 ). The ethical aspect is present in all the analyzed documents, since the ELSI studies began by covering the ethical field and therefore it has been examined for a longer time. Both "Patient Rights" and "Non-discrimination" are criteria that must always be accomplished and include mechanisms to be put into effect throughout the testing process. They represent a cross-cutting field through all other aspects of ELSI.

In fact, an analysis of each of nine documents that denotes the number of ethical, legal, or social sub-criteria covered and the respective percentage for field, showed that most of documents are oriented into the ethical field (Fig.  3 ). Thus, the highest percentages were observed in following documents: UDHG 100%, OC 75%, HGD 88%, DR 63%, APOC 88% and MGS 63% (which practically tied to the social field, 64%). While REI and IBC documents have a greater number of criteria covered in the social field, and only GQA stands out in the legal field, of course related to quality and regulation issues. These data support the assumption that some criteria might be incomplete in a single document and therefore the need to complement each other to build a more complete guideline.

Number of sub-criteria covered by each international document divided into ETHICAL, LEGAL and SOCIAL fields. The percentages indicate how much of the total identified sub-criteria is covered by each field

The LEGAL field contains most of the criteria and sub-criteria (fourteen) involved in GGT (Table 2 ), but they are not equally represented among the documents. Some of these, like the UDHG and OC, include only few legal sub-criteria like "Testing" and "Health Regulation"; furthermore, these documents do not delve into them. The "Protection of the Information" criterion focuses on time and form mechanisms to ensure safeguarding of biological samples, as well as any physical or electronic access to genetic information of the patient by unauthorized third parties, including destruction of both samples and data. The "Testing" criterion specifies under what circumstances it is advisable to perform a GGT test on the patient or a relative, informing the scope and limitations of the test. The "Health Regulation" criterion is the most extensive in content. It groups together the operations in which the legal regulatory and justice apparatus of each country must intervene to ensure the quality and reliability of GGT tests. The "Commercialization" criterion widens this scope by including sub-criteria related to the provision of GGT services and products, up to integrating technology commercialization with ELSI considerations, as it is found in the GQA and IBC documents. Yet this criterion was the least approached, denoting the research focus of most of the documents and reflecting also the international scene, where there is still no total convergence in a specific regulatory legal path for GGT, a pending situation for which the present study might be beneficial. It will be up to each country adopting proper regulations according to its particular circumstances, considering the international standards mentioned in Table 2 and always taking into account the cross-cutting ethical aspects.

As regards the SOCIAL field, we found criteria that refer to the bioethical principle of distributive justice, as well as criteria for accessing and communicating genetic information. Thus, four criteria are shown in Table 2 . "Genetic Counseling" describes the characteristics of such advice—non-directive, complete, with simple language, respectful—, which health professionals must carry out at the different stages of testing until solving all the doubts the patients might have. The "Training" criterion includes public policies in genomics, training of qualified human resources in this area, dissemination of related activities to different spheres of society, wide availability and accessibility of information on genetic testing through country institutions, as well as by academic and civil organizations. The "Reporting of Results" criterion as part of the social field, covers processes by which healthcare professionals communicate test results, associated information and address unexpected findings to the patients and in some cases to their families, this helps to mark the boundary to avoid genetic determinism. This means avoiding the consideration of a GGT result as a disease when this has not appeared, and ruling out other environmental, biological or psychosocial factors. Finally, the "Accessibility" criterion is intended to highlight the vital importance of finding ways by which GGT tests are made available to the entire population that could require them for health purposes, and not exclusively to those who can afford them. In fact, GGT accompanied by adequate medical counseling can serve as a routine instrument of public health care for opportune disease detection and prevention, and for reducing social inequality in this regard. Therefore, the "Genetic Counseling" criterion in its different phases of testing is the one that stands out the most. The other three SOCIAL criteria are well represented in the documents because of their importance, although general implementation guidelines for putting all of them into effect in countries are still lacking.

Priority criteria for genetic/genomic testing

It is also of vital importance to determine the priority criteria for genetic testing. Despite the relevance of each criterion here identified for GGT, not all of them are perceived with the same level of priority by experts in the international community. Criteria prioritization in the documents can be divided into four different groups. (A) Criteria that prioritize the safeguarding of dignity and human rights, (B) priority criteria to provide quality services regarding the protection of the health and the best interests for the patient, (C) prioritization approach to promote fair access to technology and health, (D) prioritization approach of the doctor-patient relationship.

As mentioned above, the scrutiny of the nine documents here analyzed shows differences in the attention given to the criteria and sub-criteria they contemplate. Figure  4 presents the coverage of the 29 sub-criteria ordered by numbers of citations in the analyzed documents.

GGT Sub-criteria arranged according to the number of documents in which they appear

The numbers of citations for sub-criteria may be divided into three groups (Fig.  4 ). The top group encompasses seven to nine citations (sub-criteria 1 to 8), including almost entirely those comprised in the two ETHICAL field criteria of "Patient Rights" and "Non-discrimination". This is expected, as the rights of patients constitute the basis for all ELSI documents referring to the human genome. Only one sub-criterion in this group belongs to the LEGAL field, for it concerns when it is valid applying a GGT test. This sub-criterion is highly referenced since these tests are recommended only for health purposes and under medical recommendation, seeking to discourage excessive use of GGT technology for mere curiosity (ancestry) or without proper medical indication, which could lead patients to making harmful decisions that might affect their health (direct-to-consumer tests or DTCs). As for criteria in the SOCIAL field, the top group includes "Genetic Counseling" due to the importance of medical monitoring in the diagnosis and treatment of genetic diseases. This top group includes sub-criteria with an A and D prioritization approach.

The middle group, with four to six citations, involves fourteen Sub-criteria (numbers 9 to 22), from which three belong to the LEGAL field—"Protection of the Information," "Testing," and especially the "Health Regulation"—, while other three correspond to the SOCIAL field—"Training," "Reporting of Results" and "Accessibility.” Therefore, middle group sub-criteria include B, C and D prioritization. The eight sub-criteria in the bottom group (numbers 23 to 29), turn up only between one and three times and mainly regarding the LEGAL criterion of "Commercialization" because, as pointed out previously, few documents contemplate the use and commercialization of GGT technology within ELSI studies. However, the most up-to-date review documents (MGS, GQA, IBC) have already incorporated this criterion. This bottom group is related to prioritization approach B.

In addition, Table 3 shows the criteria that we found relevant for a general prioritization approach in the three ELSI fields, corresponding to the urgency remarks pointed out by the analyzed documents from international organizations.

The seven priority criteria here distinguished are vastly represented in the analyzed documents, as shown in Fig.  4 . The ETHICAL priority criteria of "Patient Rights" and "Non-discrimination” (prioritization approach A), as well as the SOCIAL priority criterion of "Counseling" (prioritization approach D), appear at the top group in number of citations, and the rest of priority criteria in Table 3 occur in more than half of the documents analyzed. Moreover, the first two of such criteria, along with "Protection of the Information", have remained present from the first published documents elaborated with a purely ethical approach and their prioritization is still maintained. The "Health Regulation" criterion (prioritization approach B) was recognized as a priority about a decade after the first documents appeared, due to the growth in the use of GGT technology either for health purposes or other interests. The priorities of ensuring tests safety and the overall quality that laboratories provide to users are now widely acknowledged as well, as it occurs increasingly also with the “Accessibility” (prioritization approach C) and the “Training” criteria (prioritization approach B). We noticed progressivity in appreciation of ELSI criteria priorities, which is understandable, as their development over time responds to varying social, cultural and economic circumstances in different countries.

Our present observations for GGT are consistent with the WHO 2002 [ 19 ] deliberations on the ETHICAL and LEGAL priority criteria and the "Counseling" criterion. They pay particular attention to "Informed Consent" and protection of "Privacy and Confidentiality" to avoid discrimination. Furthermore, Granados-Moreno et al. [ 10 ] identified as especially relevant criteria for GGT "Counseling," "Validity and Clinical utility," "Confidentiality of information" and "Informed Consent", all of which are contained in and in agreement with our results. They considered also as relevant "Genetic Exceptionalism" and "Commercialization", including "Intellectual Property" and "Direct-to-consumer Testing", which seems to us a reasonable bioeconomy prospect for the rapid development of personalized medicine. WHO 2002 and Granados-Moreno et al. 2018 also identified as priority the "Reporting of results" criterion—"Communication of risks" and "Unexpected findings."—(prioritization approach D), and we certainly realize that the "Reporting of results" criterion is essential, since it appears in more than half of the documents here analyzed (Fig.  4 ). The prioritization approaches A, B and C, and even “Counseling” (prioritization approach D) can be supported by national legislations through laws, regulations and sanctions. Because our priority criteria are here aimed at primary wide-coverage efforts to define national GGT regulations beyond personalized GGT care, the “Reporting of results” criterion was not contemplated. Hence, it remains pending to seek synergy between health authorities, medical academies, physicians and patients to issue guidelines for the communication of results and their implications between doctor-patient, such as in the recent Declaration of Cordoba [ 53 ] and the Report of the International Bioethics Committee on the Principle of Individual Responsibility as related to Health [ 54 ].

The ELSI criteria have been progressing in step with GGT technological advancement and growing lobbying space for introducing health national laws. Although the UDHG is not an internationally binding document, several countries worldwide use it as a basis for developing their national laws. It certainly represents a good starting point; however, as already noted above, it was originally conceived to cover ethical issues in human genome research. Leaving aside other relevant and more complex aspects of ELSI studies—such as the use and commercialization of technology, the regulation of which is becoming increasingly necessary—, we firmly believe that widely accepted ELSI criteria, consistent with international bioethical requirements like those identified in the present work, could serve as a robust foundation for basing national regulations on personalized genomic medicine.

There are differences in the explicit content with which the ELSI criteria are addressed in the documents here analyzed—some of them, for example, offer an incomplete description by taking only a single document as reference—, and they would be more clearly understood if updated so as to complement each other. To do this, we propose the following: for the ETHICAL field, within the "Informed Consent" considerations, here limited to adults with full consent capacity (Table 2 ), specifications for people who cannot consent (by partial or null capacity to consent) to a GGT tests were also included under the OC (article 6 to 9), and expand according to APOC guidelines to obtain authorization (article 10 to 12), as well as to REI recommendations on autonomy and informed consent (see Table 5 of that document). For the LEGAL aspect: we suggest considering HGD guidelines on the collection, processing, use, and storage of genetic data and biological samples, both in research and by testing companies, including cross-border operations. As regards ensuring the quality of GGT services, we recommend supplementing the GQA principles and best practices (part I, section 2) with those of APOC on quality of genetic services and clinical utility (article 5 and 6), and IBC recommendations, particularly for DTC (issue 121). We perceived an urgency for GGT technology regulation, which would benefit from the inclusion of parameters on the attribution of responsibilities to the different stakeholders (States and governments, scientists and regulatory bodies, media and educators, economic actors and for-profit companies) as mentioned by IBC (page 3 and 4), and the coverage of damage repair pointed out in UDHG (article 8). The most comprehensive recommended reasons to applying GGT tests are found in APOC for benefit of patients or family members or for biological materials and deceased persons (articles 8, 13, 14 and 15), and may be supported by those found in IBC on the understanding of illness and health (section II.1.3). For the SOCIAL aspect: we propound taking the broad criteria of genetic counseling from REI about counseling competent adults, children and adolescents, persons with diminished mental capacity, adults who abdicate moral autonomy (part II section 2); in conjunction with DR recommendations for medical students and physicians giving counseling (page 2 and 3). To address unexpected findings, we found appropriate the guidelines presented in DR due to the explicit information that the patient should receive (page 2). To support the distributive justice, the recommendations for encouraging the formation of civilian organizations might be considered according to MGS (section 4.6.5) and REI (part I 3.5). Likewise, there is an intense call to promote bioethics education of both patients and society, according to the observations described in MGS for supporting the effectiveness of genetic services and help to prevent discrimination and stigmatization (section. 4.7); along with the vision of REI on education as the key to ethical genetics services (part I section 3), and finally with GQA principles for education and training standards for laboratory personnel (part I 2.E).

Synopsis and Perspectives

As shown above, the ethical, legal and social implications of research in the human genome constitute today a dynamic, progressive and profusely interconnected area of study. This is reflected in the evolution of published international documents and the parallel emergence of national ELSI programs. Three main attention areas stand out: (a) clinical care and doctor-patient relationship, (b) protection of rights for patients and relatives, and (c) advantages of interdisciplinary approach. Together they contribute to strengthen respect for human dignity, rights and privacy, in order to avoid discrimination for genetic reasons. The weakest points for effectively enforcing these demands lie in national health regulations and, above all, those related to commercialization of GGT technology.

As a necessary pending step to meet such challenges, here we present a first unified extract of the parameters that define each ELSI field and thus give actual meaning to the ethical, legal, and social issues in the major documents published on these subjects by international organizations in the last 30 years. Future elements can now be added to this disambiguated matrix in an orderly and organized manner, as needed to keep abreast with further developments in each field of study. In its present version it comprises the three fundamental ELSI fields relevant for genomic medicine, already customized for GGT: (1) applicable bioethical principles, (2) legal aspects in a flexible framework to fit the evolution of new technologies, and (3) the socio-cultural context of science and technology. It includes twenty-nine ELSI sub-criteria pertinent to GGT grouped into ten main criteria, along with seven top priority criteria we found to provide a precise starting point for reviewing, evaluating or proposing national regulations for GGT, in an integrative way for human rights protection and the development of bioeconomy.

The minimum criteria here identified are focused on GGT for medical purposes, but they can be easily extrapolated to other genomic medicine areas like biobanks [ 55 ], epigenetics [ 56 ], human genetic databases [ 57 ] and germline genetic modification [ 58 ]. It will undoubtedly be of interest extending this study to genetic testing of newborns and for non-medical purposes such as exploration of personal ancestry, as well as to groups of people in situations of vulnerability and with only partial capacity of consent like prisoners and mentally impaired persons. In addition, there are also criteria that become relevant in the international relations and research contexts, like "Genomic Sovereignty" [ 59 , 60 ], "Data Sharing" [ 61 , 62 ] and "International Cooperation" [ 63 , 64 ].

Given the multidisciplinary and dynamic nature of the ELSI fields, the incorporation of other complementary fields of study is to be expected. The Organization for Economic Co-operation and Development (OECD) recognizes that the main health challenges which countries and societies will face over the coming decades can be alleviated through the invention, development and use of products and processes of biological materials, a collection of factors designated as Bioeconomy [ 65 ]. And this assortment will certainly include legal and commercial aspects such as proof of innovation, registration of intellectual property, verification of functionality and safety, and authorization for sale and distribution, all of which go beyond issues relating directly to patient rights and health professional obligations. A practical example of the involvement of bioeconomy in genomic studies for society is the GE3LS program by a Canadian government organization [ 48 ], which considers even environmental and economic issues in addition to the usual ethical, legal, and social aspects. Since all of this will likely play a key role in future ELSI studies, particularly for the commercialization of GGT technology, we suggest the incorporation of a BIOECONOMY field into studies concerning genomic medicine.

On the other hand, as ELSI studies evolution transits from concerns about human rights protection to concerns about profitable applications of technology in genomic medicine, the urgency of proper harmonized regulations is evident. The harmonized ELSI criteria are useful to create, verify, and supplement national regulations, which may balance the development of bioeconomy, social equity, but above all provide the maximum protection of human rights and dignity before any economic, legal, commercial, social and research interests. However, there is still a long way to go for bringing on and pairing ELSI discussions into the field of GGT technology commercialization. Accordingly, in parallel to GGT technology fast advance, there is a considerable and pressing need for international harmonization of ELSI criteria in both content and quantity. For it is inaccurate and confusing to continue calling “ELSI criteria” to just a few somewhat arbitrarily used ones when there are at least two dozen of proper options, which can be narrowed down to concise meanings as shown in this paper. Hence, it is crucial for international and interdisciplinary panels of experts to discuss and stress the use of correct ELSI nomenclature in all contexts, for which we hope the present contribution may prove useful.

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Abbreviations

Additional protocol to the convention on human rights and biomedicine, concerning genetic testing for health purposes

Deoxyribonucleic acid

Ethical considerations regarding the use of genetics in health care (declaration of Reykjavik)

Direct-to-consumer genetic testing

Ethical, legal, and social implications

Global alliance for genomics and health

Genomics and its ethical, environmental, economic, legal, and social aspects

Genetic and genomic testing

Guidelines for quality assurance in molecular genetic testing

International declaration on human genetic data

Report of the international bioethics committee on updating its reflection on the human genome and human rights

Medical genetic services in developing countries. The ethical, legal, and social implications of genetic testing and screening

Convention for the protection of human rights and dignity of the human being regarding the application of biology and medicine: convention on human rights and biomedicine (Oviedo convention)

Organization for economic co-operation and development

Policy partnerships project for genomic governance

Review of ethical issues in medical genetics

Universal Declaration on the Human Genome and Human Rights

United Nations Educational, Scientific and Cultural Organization

World Health Organization

World Medical Association

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The first author was supported by a doctoral scholarship (243314) from the Consejo Nacional de Ciencia y Tecnología (CONACyT México). We thank for Open Access funding provided by Cinvestav and Inmegen.

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Ascencio-Carbajal, T., Saruwatari-Zavala, G., Navarro-Garcia, F. et al. Genetic/genomic testing: defining the parameters for ethical, legal and social implications (ELSI). BMC Med Ethics 22 , 156 (2021). https://doi.org/10.1186/s12910-021-00720-5

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• What more can we possibly discover about DNA?

Genetic Engineering Topics

• Define gene editing, and outline key gene-editing technologies, explaining their impact on genetic engineering
• The essential role the human microbiome plays in preventing diseases
• The principles of genetic engineering
• Project on different types of cloning
• What is whole genome sequencing
• Explain existing studies on DNA-modified organisms
• How cloning can impact medicine
• Does our genetics hold the key to disease prevention?
• Can our genetics make us resistant to certain bacteria and viruses?
• Why our genetics plays a role in chronic degenerative diseases.
• Is it possible to create an organism in a controlled environment with genetic engineering?
• Would cloning lead to new advancements in genetic research?
• Is there a possibility to enhance human DNA?
• Why do we share DNA with so many other animals on the planet?
• Is our DNA still evolving or have reached our biological limit?
• Can human DNA be manipulated on a molecular or atomic level?
• Do we know everything there is to know about our DNA, or is there more?

Controversial Human Genetic Topics

• Who owns the rights to the human genome
• Is it legal for parents to order genetically perfect children
• is genetic testing necessary
• What is your stand on artificial insemination vs. ordinary pregnancy
• Do biotech companies have the right to patent human genes
• Define the scope of the accuracy of genetic testing
• Perks of human genetic engineering
• Write about gene replacement and its relationship to artificial chromosomes.
• Analyzing DNA and cloning
• DNA isolation and nanotechnology methods to achieve it.
• Genotyping of African citizens.
• Greatly mutating Y-STRs and the isolated study of their genetic variation.
• The analytical finding of indels and their genetic diversity.

DNA Research Paper Topics

The role and research of DNA are so impactful today that it has a significant effect on our daily lives today. From health care to medication and ethics, over the last few decades, our knowledge of DNA has experienced a lot of growth. A lot has been discovered from the research of DNA and genetics.

Therefore, writing a good research paper on DNA is quite the task today. Choosing the right topic can make things a lot easier and interesting for writing your paper. Also, make sure that you have reliable resources before you begin with your paper.

• Can we possibly identify and extract dinosaur DNA?
• Is the possibility of cloning just around the corner?
• Is there a connection between the way we behave and our genetic sequence?
• DNA research and the environment we live in.
• Does our DNA sequencing have something to do with our allergies?
• The connection between hereditary diseases and our DNA.
• The new perspectives and complications that DNA can give us.
• Is DNA the reason all don’t have similar looks?
• How complex human DNA is.
• Is there any sort of connection between our DNA and cancer susceptibility and resistance?
• What components of our DNA affect our decision-making and personality?
• Is it possible to create DNA from scratch under the right conditions?
• Why is carbon such a big factor in DNA composition?
• Why is RNA something to consider in viral research and its impact on human DNA?
• Can we detect defects in a person’s DNA before they are born?

Genetics Topics For Presentation

The subject of genetics can be quite broad and complex. However, choosing a topic that you are familiar with and is unique can be beneficial to your presentation. Genetics plays an important part in biology and has an effect on everyone, from our personal lives to our professional careers.

Below are some topics you can use to set up a great genetics presentation. It helps to pick a topic that you find engaging and have a good understanding of. This helps by making your presentation clear and concise.

• Can we create an artificial gene that’s made up of synthetic chromosomes?
• Is cloning the next step in genetic research and engineering?
• The complexity and significance of genetic mutation.
• The unlimited potential and advantages of human genetics.
• What can the analysis of an individual’s DNA tell us about their genetics?
• Is it necessary to conduct any form of genetic testing?
• Is it ethical to possibly own a patent to patent genes?
• How accurate are the results of a genetics test?
• Can hereditary conditions be isolated and eliminated with genetic research?
• Can genetically modified food have an impact on our genetics?
• Can genetics have a role to play in an individual’s sexuality?
• The advantages of further genetic research.
• The pros and cons of genetic engineering.
• The genetic impact of terminal and neurological diseases.

Biotechnology Topics For Research Papers

As we all know, the combination of biology and technology is a great subject. Biotechnology still offers many opportunities for eager minds to make innovations. Biotechnology has a significant role in the development of modern technology.

Below you can find some interesting topics to use in your next biotechnology research paper. Make sure that your sources are reliable and engage both you and the reader.

• Settlements that promote sustainable energy technology maintenance.
• Producing ethanol through molasses emission treatment.
• Evapotranspiration and its different processes.
• Circular biotechnology and its widespread framework.
• Understanding the genes responsible for flora response to harsh conditions.
• Molecule signaling in plants responding to dehydration and increased sodium.
• The genetic improvement of plant capabilities in major crop yielding.
• Pharmacogenomics on cancer treatment medication.
• Pharmacogenomics on hypertension treating medication.
• The uses of nanotechnology in genotyping.
• How we can quickly detect and identify food-connected pathogens using molecular-based technology.
• The impact of processing technology both new and traditional on bacteria cultures linked to Aspalathus linearis.
• A detailed analysis of adequate and renewable sorghum sources for bioethanol manufacturing in South Africa.
• A detailed analysis of cancer treatment agents represented as special quinone compounds.
• Understanding the targeted administering of embelin to cancerous cells.

Tips for Writing an Interesting Genetics Research Paper

All the genetics research topics above are excellent, and if utilized well, could help you come up with a killer research paper. However, a good genetics research paper goes beyond the topic. Therefore, besides choosing a topic, you are most interested in, and one with sufficient research materials ensure you

Fully Understand the Research Paper Format

You may write on the most interesting genetics topics and have a well-thought-out set of ideas, but if your work is not arranged in an engaging and readable manner, your professor is likely to dismiss it, without looking at what you’ve written. That is the last thing you need as a person seeking to score excellent grades. Therefore, before you even put pen to paper, understand what research format is required.

Keep in mind that part of understanding the paper’s format is knowing what words to use and not to use. You can contact our trustful masters to get qualified assistance.

Research Thoroughly and Create an Outline

Whichever genetics research paper topics you decide to go with, the key to having excellent results is appropriately researching it. Therefore, embark on a journey to understand your genetics research paper topic by thoroughly studying it using resources from your school’s library and the internet.

Ensure you create an outline so that you can note all the useful genetic project ideas down. A research paper outline will help ensure that you don’t forget even one important point. It also enables you to organize your thoughts. That way, writing them down in the actual genetics research paper becomes smooth sailing. In other words, a genetics project outline is more like a sketch of the paper.

Other than the outline, it pays to have an excellent research strategy. In other words, instead of looking for information on any random source you come across, it would be wise to have a step-by-step process of looking for the research information.

For instance, you could start by reading your notes to see what they have to say about the topic you’ve chosen. Next, visit your school’s library, go through any books related to your genetics research paper topic to see whether the information on your notes is correct and for additional information on the topic. Note, you can visit the library either physically or via your school’s website. Lastly, browse educational sites such as Google Scholar, for additional information. This way, you’ll start your work with a bunch of excellent genetics project ideas, and at the same time, you’ll have enjoyed every step of the research process.

Get Down to Work

Now turn the genetics project ideas on your outline into a genetics research paper full of useful and factual information.

There is no denying writing a genetics research paper is one of the hardest parts of your studies. But with the above genetics topics and writing tips to guide you, it should be a tad easier. Good luck!

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119 Genetics Research Topics You Must Know About

Put simply, Genetics is the study of genes and hereditary traits in living organisms. Knowledge in this field has gone up over time, and this is proportional to the amount of research.

Right from the DNA structure discovery, a lot more has come out into the open. There are so many genetics research topics to choose from because of the wide scope of research done in recent years.

Genetics is so dear to us since it helps us understand our genes and hereditary traits. In this guide, you will get to understand this subject more and get several topic suggestions that you can consider when looking for interesting genetics topics.

Writing a paper on genetics is quite intriguing nowadays. Remember that because there are so many topics in genetics, choosing the right one is crucial. It will help you cut down on research time and the technicality of selecting content for the topic. Thus, it would matter a lot if you confirmed whether or not the topic you’re choosing has relevant sources in plenty.

What Is Genetics?

Before we even go deeper into genetics topics for research papers, it is essential to have a basic understanding of what the subject entails.

Genetics is a branch of Biology to start with. It is mainly focused on the study of genetic variation, hereditary traits, and genes.

Genetics has relations with several other subjects, including biotechnology, medicine, and agriculture. In Genetics, we study how genes act on the cell and how they’re transmitted from a parent to the offspring. In modern Genetics, the emphasis is more on DNA, which is the chemical substance found in genes. Remember that Genetics cut across animals, insects, and plants – basically any living organism there is.

Tips On How To Write A Decent Research Paper On Genetics

When planning to choose genetics topics, you should also make time and learn how to research. After all, this is the only way you can gather the information that will help you come up with the content for the paper. Here are some tips that can bail you out whenever you feel stuck:

Choosing the topic, nonetheless, is not an easy thing for many students. There are just so many options present, and often, you get spoilt for choice. But note that this is an integral stage/process that you have to complete. Do proper research on the topic and choose the kind of information that you’d like to apply.

Choose a topic that has enough sources academically. Also, choosing interesting topics in genetics is a flex that can help you during the writing process.

On the web, there’s a myriad of information that often can become deceiving. Amateurs try their luck to put together several pieces of information in a bid to try and convince you that they are the authority on the subject. Many students become gullible to such tricks and end up writing poorly in Genetics.

Resist the temptation to look for an easy way of gaining sources/information. You have to take your time and dig up information from credible resources. Otherwise, you’ll look like a clown in front of your professor with laughable Genetics content.

Also, it is quite important that you check when your sources were updated or published. It is preferred and advised that you use recent sources that have gone under satisfactory research and assessment.

Also, add a few words to each on what you’re planning to discuss.Now, here are some of the top genetics paper topics that can provide ideas on what to write about.

Good Ideas For Genetics Topics

Here are some brilliant ideas that you can use as research paper topics in the Genetics field:

• Is the knowledge of Genetics ahead of replication and research?
• What would superman’s genetics be like?
• DNA molecules and 3D printing – How does it work?
• How come people living in mountainous regions can withstand high altitudes?
• How to cross genes in distinct animals.
• Does gene-crossing really help to improve breeds or animals?
• The human body’s biggest intriguing genetic contradictions
• Are we still far away from achieving clones?
• How close are we to fully cloning human beings?
• Can genetics really help scientists to secure various treatments?
• Gene’s regulation – more details on how they can be regulated.
• Genetic engineering and its functioning.
• What are some of the most fascinating facts in the field of Genetics?
• Can you decipher genetic code?
• Cancer vaccines and whether or not they really work.
• Revealing the genetic pathways that control how proteins are made in a bacterial cell.
• How food affects the human body’s response to and connection with certain plants’ and animals’ DNA.

Hot Topics In Genetics

In this list are some of the topics that raise a lot of attention and interest from the masses. Choose the one that you’d be interested in:

• The question of death: Why do men die before women?
• Has human DNA changed since the evolution process?
• How much can DNA really change?
• How much percentage of genes from the father goes to the child?
• Does the mother have a higher percentage of genes transferred to the child?
• Is every person unique in terms of their genes?
• How does genetics make some of us alike?
• Is there a relationship between diets and genetics?
• Does human DNA resemble any other animal’s DNA?
• Sleep and how long you will live on earth: Are they really related?
• Does genetics or a healthy lifestyle dictate how long you’ll live?
• Is genetics the secret to long life on earth?
• How much does genetics affect your life’s quality?
• The question on ageing: Does genetics have a role to play?
• Can one push away certain diseases just by passing a genetic test?
• Is mental illness continuous through genes?
• The relationship between Parkinson’s, Alzheimer’s and the DNA.

Molecular Genetics Topics

Here is a list of topics to help you get a better understanding of Molecular genetics:

• Mutation of genes and constancy.
• What can we learn more about viruses, bacteria, and multicellular organisms?
• A study on molecular genetics: What does it involve?
• The changing of genetics in bacteria.
• What is the elucidation of the chemical nature of a gene?
• Prokaryotes genetics: Why does this take a centre stage in the genetics of microorganisms?
• Cell study: How this complex assessment has progressed.
• What tools can scientists wield in cell study?
• A look into the DNA of viruses.
• What can the COVID-19 virus help us to understand about genetics?
• Examining molecular genetics through chemical properties.
• Examining molecular genetics through physical properties.
• Is there a way you can store genetic information?
• Is there any distinction between molecular levels and subcellular levels?
• Variability and inheritance: What you need to note about living things at the molecular level.
• The research and study on molecular genetics: Key takeaways.
• What scientists can do within the confines of molecular genetics?
• Molecular genetics research and experiments: What you need to know.
• What is molecular genetics, and how can you learn about it?

Human Genetics Research Topics

Human genetics is an interesting field that has in-depth content. Some topics here will jog your brain and invoke curiosity in you. However, if you have difficulty writing a scientific thesis , you can always contact us for help.

• Can you extend your life by up to 100% just by gaining more understanding of the structure of DNA?
• What programming can you do with the help of DNA?
• Production of neurotransmitters and hormones through DNA.
• Is there something that you can change in the human body?
• What is already predetermined in the human body?
• Do genes capture and secure information on someone’s mentality?
• Vaccines and their effect on the DNA.
• What’s the likelihood that a majority of people on earth have similar DNA?
• Breaking of the myostatin gene: What impact does it have on the human body?
• Is obesity passed genetically?
• What are the odds of someone being overweight when the rest of his lineage is obese?
• A better understanding of the relationship between genetics and human metabolism.
• The truths and myths engulfing human metabolism and genetics.
• Genetic tests on sports performance: What you need to know.
• An insight on human genetics.
• Is there any way that you can prevent diseases that are transmitted genetically?
• What are some of the diseases that can be passed from one generation to the next through genetics?
• Genetic tests conducted on a person’s country of origin: Are they really accurate?
• Is it possible to confirm someone’s country of origin just by analyzing their genes?

Current Topics in Genetics

A list to help you choose from all the most relevant topics:

• DNA-altering experiments: How are scientists conducting them?
• How important is it to educate kids about genetics while they’re still in early learning institutions?
• A look into the genetics of men and women: What are the variations?
• Successes and failures in the study of genetics so far.
• What does the future of genetics compare to the current state?
• Are there any TV series or science fiction films that showcase the future of genetics?
• Some of the most famous myths today are about genetics.
• Is there a relationship between genetics and homosexuality?
• Does intelligence pass through generations?
• What impact does genetics hold on human intelligence?
• Do saliva and hair contain any genetic data?
• What impact does genetics have on criminality?
• Is it possible that most criminals inherit the trait through genetics?
• Drug addiction and alcohol use: How close can you relate it to genetics?
• DNA changes in animals, humans, and plants: What is the trigger?
• Can you extend life through medication?
• Are there any available remedies that extend a person’s life genetically?
• Who can study genetics?
• Is genetics only relevant to scientists?
• The current approach to genetics study: How has it changed since ancient times?

Controversial Genetics Topics

Last, but definitely not least, are some controversial topics in genetics. These are topics that have gone through debate and have faced criticism all around. Here are some you can write a research paper about:

• Gene therapy: Some of the ethical issues surrounding it.
• The genetic engineering of animals: What questions have people raised about it?
• The controversy around epigenetics.
• The human evolution process and how it relates to genetics.
• Gene editing and the numerous controversies around it.
• The question on same-sex relations and genetics.
• The use of personal genetic information in tackling forensic cases.
• Gene doping in sports: What you need to know.
• Gene patenting: Is it even possible?
• Should gene testing be compulsory?
• Genetic-based therapies and the cloud of controversy around them.
• The dangers and opportunities that lie in genetic engineering.
• GMOs and their impact on the health and welfare of humans.
• At what stage in the control of human genetics do we stop to be human?
• Food science and GMO.
• The fight against GMOs: Why is it such a hot topic?
• The pros and cons of genetic testing.
• The debates around eugenics and genetics.
• Labelling of foods with GMO: Should it be mandatory?
• What really are the concerns around the use of GMOs?
• The Supreme Court decision on the patent placed on gene discoveries.
• The ethical issues surrounding nurses and genomic healthcare.
• Cloning controversial issues.
• Religion and genetics.
• Behavior learning theories are pegged on genetics.
• Countries’ war on GMOs.
• Studies on genetic disorders.

Get Professional Help Online

Now that we have looked at the best rated topics in genetics, from interesting to controversial topics genetics, you have a clue on what to choose. These titles should serve as an example of what to select.

Nonetheless, if you need help with a thesis, we are available to offer professional and affordable thesis writing services . Our high quality college and university assignment assistance are available to all students online at a cheap rate. Get a sample to check on request and let us give you a hand when you need it most.

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Research Topics

The Center for Genetic Medicine’s faculty members represent 33 departments or programs across three Northwestern University schools and three Feinberg-affiliated healthcare institutions. Faculty use genetics and molecular genetic approaches to understand biological processes for a diverse range of practical and clinical applications.

Select a topic below to learn more and see a list of faculty associated with that type of research. For a full list of Center for Genetic Medicine members, visit our Members section .

  Animal Models of Human Disease

Using genetic approaches with model organisms to investigate cellular and physiological processes can lead to improved approaches for detection, prevention and treatment of human diseases.

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  Bioinformatics & Statistics

Bioinformatics, a discipline that unites biology, computer science, statistical methods, and information technology, helps researchers understand how genes or parts of genes relate to other genes, and how genes interact to form networks. These studies provide insight to normal cellular functions and how these functions are disturbed by disease. Statistics is central to genetic approaches, providing quantitative support for biological observations, and statistical genetics is heavily used by laboratories performing gene and trait mapping, sequencing and genotyping, epidemiology, population genetics and risk analysis.

  Cancer Genetics and Genomics

Cancer begins with genetic changes, or mutations, that disrupt normal regulation of cell proliferation, survival and death. Inherited genetic changes contribute to the most common cancers, like breast and colon cancer, and genetic testing can help identify risks for disease. Tumors also develop additional genetic changes, or somatic mutations, that promote cancer growth and tumor metastases. These genetic changes can be readily defined through DNA and RNA sequencing. Genetic changes within a tumor can be used to develop and guide treatment options.

  Cardiovascular Genetics

Cardiovascular disease is one of the leading causes of death in the US, and the risk of  cardiovascular disease is highly dependent inherited genetic changes. The most common forms of heart disease including heart failure, arrhythmias, and vascular disease are under heritable genetic changes. We work to identify and understand the functions of genes that affect the risk of developing cardiovascular disease, as well as to understand the function of genes involved in the normal and pathological development of the heart.

  Clinical and Therapeutics

Using genetic data identifies pathways for developing new therapies and applying existing therapies. DNA sequencing and epigenetic profiling of tumors helps define the precise defects responsible for cancer progression. We use genetic signals to validate pathways for therapy development.  We are using gene editing methods to correct genetic defects. These novel strategies are used to treat patients at Northwestern Memorial Hospital and the Ann & Robert H. Lurie Children's Hospital of Chicago.

  Development

The genomic blueprint of a single fertilized egg directs the formation of the entire organism. To understand the cellular processes that allow cells to create organs and whole animals from this blueprint, we use genetic approaches to investigate the development of model organisms and humans. Induced pluripotent stem cells can be readily generated from skin, blood or urine cells and used to mirror human developmental processes. These studies help us define how genes coordinate normal human development and the changes that occur in diseases, with the goal of improving detection, prevention and treatment of human disease.

  Epigenetics/Chromatin Structure/Gene Expression

Abnormal gene expression underlies many diseases, including cancer and cardiovascular diseases. We investigate how gene expression is regulated by chromatin structure and other regulators to understand abnormal gene expression in disease, and to learn how to manipulate gene expression for therapeutic purposes.

  Gene Editing/Gene Therapy

Gene editing tools like CRISPR/Cas can be used to directly alter the DNA code. This tool is being used to generate cell and animal models of human diseases and disease processes. Gene therapy is being used to treat human disease conditions.

  Genetic Counseling

As part of training in genetic counseling, each student completes a thesis project. These projects examine all aspects of genetic counseling ranging from family-based studies to mechanisms of genetic action. With the expansion of genetic testing, genetic counselors are now conducting research on outcomes, cost effectiveness, and quality improvement.

  Genetic Determinants of Cellular Biology

Genetic mutations ultimately change the functionality of the cells in which they are found. Mutations in genes encoding nuclear, cytoplasmic and extracellular matrix protein lead to many different human diseases, ranging from neurological and developmental disorders to cancer and heart disease. Using induced pluripotent stem cell and gene-editing technologies, it is now possible to generate and study nearly every human genetic disorder. Having cellular models of disease is necessary to develop new treatments.

  Immunology

Many immunological diseases, such as Rheumatoid arthritis, Lupus, scleroderma, and others have a genetic basis. We work to understand how genetic changes and misregulation contribute to immunological diseases, and use genetic approaches to investigate how the immune system functions.

  Infectious Disease/Microbiome

The susceptibility and/or pathological consequences of many infectious diseases have a genetic basis. We investigate how human genes interact with infectious diseases, and use genetic approaches to determine the interactions between pathogens and the host. Genetic tools, including deep sequencing, are most commonly used to define the microbiome as it undergoes adaptation and maladaptation to its host environment.

  Neuroscience

We work to understand how genes contribute to neurological diseases, and use genetic approaches to investigate how the nervous system functions. Epilepsy, movement disorders, and dementia are heritable and under genetic influence. Neuromuscular diseases including muscular dystrophies and myopathies arise from primary mutations and research in genetic correction is moving into human trials and drug approvals.

  Population Genetics/Epidemiology

Genetic data is increasingly available from large human populations and is advancing the population-level understanding of genetic risk. Northwestern participates in All-Of-US, which aims to build a cohort of one million citizens to expand genetic knowledge of human diseases. Race and ancestry have genetic determinants and genetic polymorphisms can help mark disease risks better than other markers of race/ancestry. We use epidemiology and population genetics to investigate the genetic basis of disease, and to assess how genetic diseases affect subgroups within broader populations.

  Reproduction

Research is examining how germ cells are specified. We study the broad range of biology required to transmit genetic information from one generation to another, and how to facilitate the process of reproduction when difficulties arise or to avoid passing on mutant genes.

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204 Genetics Research Topics & Essay Questions for College and High School

Genetics studies how genes and traits pass from generation to generation. It has practical applications in many areas, such as genetic engineering, gene therapy, gene editing, and genetic testing. If you’re looking for exciting genetics topics for presentation, you’re at the right place! Here are genetics research paper topics and ideas for different assignments.

🧬 TOP 7 Genetics Topics for Presentation 2024

🏆 best genetics essay topics, ❓ genetics research questions, 👍 good genetics research topics & essay examples, 🌟 cool genetics topics for presentation, 🌶️ hot genetics topics to write about, 🔎 current genetic research topics, 🎓 most interesting genetics topics.

• Advantages and Disadvantages of Genetic Testing
• Should Parents Have the Right to Choose Their Children Based on Genetics?
• The Potential Benefits of Genetic Engineering
• Genetically Modified Pineapples and Their Benefits
• The Importance of Heredity and Genetics
• Cause and Effect of Genetically Modified Food
• Genetic and Social Behavioral Learning Theories
• Link Between Obesity and Genetics Obesity affects the lives through limitations implemented on the physical activity, associated disorders, and even emotional pressure.
• Genetically Modified Organisms: Pros and Cons Genetically modified organisms are organisms that are created after combining DNA from a different species into an organism to come up with a transgenic organism.
• A Career in Genetics: Required Skills and Knowledge A few decades ago, genetics was mostly a science-related sphere of employment. People with a degree in genetics can have solid career prospects in medicine and even agriculture.
• Genetics of Developmental Disabilities The aim of the essay is to explore the genetic causes of DDs, especially dyslexia, and the effectiveness of DNA modification in the treatment of these disorders.
• Genetic and Environmental Impacts on Teaching Work If students do not adopt learning materials and the fundamentals of the curriculum well, this is a reason for reviewing the current educational regimen.
• Human Genetics: Multifactorial Traits This essay states that multifactorial traits in human beings are essential for distinguishing individual characteristics in a population.
• Ban on Genetically Modified Foods Genetically modified (GM) foods are those that are produced with the help of genetic engineering. Such foods are created from organisms with changed DNA.
• Simulating the Natural Selection and Genetic Drift This lab was aimed at simulating the natural selection and genetic drift as well as predicting their frequency of evolution change.
• Ethical Concerns on Genetic Engineering The paper discusses Clustered Regularly Interspaced Short Palindromic Repeats technology. It is a biological system for modifying DNA.
• Family Pedigree, Human Traits, and Genetic Testing Genetic testing allows couples to define any severe genes in eight-cell embryos and might avoid implanting the highest risk-rated ones.
• Benefits of Genetic Engineering The potential increase of people’s physical characteristics and lifespan may be regarded as another advantage of genetic engineering.
• Genetically Modified Food as a Current Issue GM foods are those kinds of food items that have had their DNA changed by usual breeding; this process is also referred to as Genetic Engineering.
• Genetics of Personality Disorders The genetics of different psychological disorders can vary immensely; for example, the genetic architecture of schizophrenia is quite perplexing and complex.
• Medicine Is Not a Genetic Supermarket Together with the development of society, medicine also develops, but some people are not ready to accept everything that science creates.
• Plant Genetic Engineering: Genetic Modification Genetic engineering is the manipulation of the genes of an organism by completely altering the structure of the organism.
• Advantages of Using Genetically Modified Foods Genetic modifications of traditional crops have allowed the expansion of agricultural land in areas with adverse conditions.
• Medical and Psychological Genetic Counseling Genetic counseling is defined as the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.
• Genetic and Environmental Factors Causing Alcoholism and Effects of Alcohol Abuse The term alcoholism may be used to refer to a wide range of issues associated with alcohol. Simply put, it is a situation whereby an individual cannot stay without alcohol.
• Genetic Engineering: Gene Therapy The purpose of the present study is to discover just what benefits gene therapy might have to offer present and future generations.
• Genetic Engineering: Dangers and Opportunities Genetic engineering can be defined as: “An artificial modification of the genetic code of an organism. It changes radically the physical nature of the being in question.
• Behavioral Genetics in “Harry Potter” Books The reverberations of the Theory of Behavioral Genetics permeate the Harry Potter book series, enabling to achieve the comprehension of characters and their behaviors.
• Genetic Testing and Privacy & Discrimination Issues Genetic testing is fraught with the violation of privacy and may result in discrimination in employment, poor access to healthcare services, and social censure.
• Technology of Synthesis of Genetically Modified Insulin The work summarizes the technology for obtaining genetically modified insulin by manipulating the E. coli genome.
• Genomics, Genetics, and Nursing Involvement The terms genomics and genetics refer to the study of genetic material. In many cases, the words are erroneously used interchangeably.
• Genetically Modified Foods and Their Impact on Human Health Genetically modified food has become the subject of discussion. There are numerous benefits and risks tied to consumption of genetically modified foods.
• Genetic Engineering: Cloning With Pet-28A Embedding genes into plasmid vectors is an integral part of molecular cloning as part of genetic engineering. An example is the cloning of the pectate lyase gene.
• Mendelian Genetics and Chlorophyll in Plants This paper investigates Mendelian genetics. This lab report will examine the importance of chlorophyll in plants using fast plants’ leaves and stems.
• Literature Review: Acceptability of Genetic Engineering The risks and benefits of genetic engineering must be objectively evaluated so that modern community could have a better understanding of this problem
• Impacts of Genetic Engineering of Agricultural Crops In present days the importance of genetic engineering grew due to the innovations in biotechnologies and Sciences.
• Genetic and Genomic Healthcare: Nurses Ethical Issues Genomic medicine is one of the most significant ways of tailoring healthcare at a personal level. This paper will explore nursing ethics concerning genetic information.
• GMO: Some Peculiarities and Associated Concerns Genetically modified organisms are created through the insertion of genes of other species into their genetic codes.
• How Much Do Genetics Affect Us?
• What Can Livestock Breeders Learn From Conservation Genetics and Vice Versa?
• How Do Genetics Affect Caffeine Tolerance?
• How Dolly Sheep Changed Genetics Forever?
• What Is the Nature and Function of Genetics?
• What Are the Five Branches of Genetics?
• How Does Genetics Affect the Achievement of Food Security?
• Are Owls and Larks Different in Genetics When It Comes to Aggression?
• How Do Neuroscience and Behavioral Genetics Improve Psychiatric Assessment?
• How Does Genetics Influence Human Behavior?
• What Are Three Common Genetics Disorders?
• Can Genetics Cause Crime or Are We Presupposed?
• What Are Examples of Genetics Influences?
• How Do Genetics Influence Psychology?
• What Traits Are Influenced by Genetics?
• Why Tampering With Our Genetics Will Be Beneficial?
• How Genetics and Environment Affect a Child’s Behaviors?
• Which Country Is Best for Genetics Studies?
• How Does the Environment Change Genetics?
• Can Crop Models Identify Critical Gaps in Genetics, Environment, and Management Interactions?
• How Can Drug Metabolism and Transporter Genetics Inform Psychotropic Prescribing?
• Can You Change Your Genetics?
• How Old Are European Genetics?
• Will Benchtop Sequencers Resolve the Sequencing Trade-off in Plant Genetics?
• What Can You Study in Genetics?
• What Are Some Genetic Issues?
• Does Genetics Matter for Disease-Related Stigma?
• How Did the Drosophila Melanogaster Impact Genetics?
• What Is a Genetics Specialist?
• Will Genetics Destroy Sports?
• Is ADHD Genetically Passed Down to Family Members? Genetic correlations between such qualities as hyperactivity and inattention allowed us to define ADHD as a spectrum disorder rather than a unitary one.
• Alzheimer’s Disease: Genetic Risk and Ethical Considerations Alzheimer’s disease is a neurodegenerative disease that causes brain shrinkage and the death of brain cells. It is the most prevalent form of dementia.
• Environmental Impact of Genetically Modified Crop In 1996, the commercial use of genetically modified (GM) crop production techniques had increasingly been accepted by many farmers.
• Gene Transfer and Genetic Engineering Mechanisms This paper discusses gene transfer mechanisms and the different genetic engineering mechanisms. Gene transfer, a natural process, can cause variation in biological features.
• Nutrition: Obesity Pandemic and Genetic Code The environment in which we access the food we consume has changed. Unhealthy foods are cheaper, and there is no motivation to eat healthily.
• Relation Between Genetics and Intelligence Intelligence is a mental ability to learn from experience, tackle issues and use knowledge to adapt to new situations and the factor g may access intelligence of a person.
• Genetics in Diagnosis of Diseases Medical genetics aims to study the role of genetic factors in the etiology and pathogenesis of various human diseases.
• The Morality of Selective Abortion and Genetic Screening The paper states that the morality of selective abortion and genetic screening is relative. This technology should be made available and legal.
• Environmental Ethics in Genetically Modified Organisms The paper discusses genetically modified organisms. Environmental ethics is centered on the ethical dilemmas arising from human interaction with the nonhuman domain.
• Does Genetic Predisposition Affect Learning in Other Disciplines? This paper aims to examine each person’s ability to study a discipline for which there is no genetic ability and to understand how effective it is.
• Detection of Genetically Modified Products Today, people are becoming more concerned about the need to protect themselves from the effects of harmful factors and to buy quality food.
• Genetically Modified Organisms Solution to Global Hunger It is time for the nations to work together and solve the great challenge of feeding the population by producing sufficient food and using fewer inputs.
• Restricting the Volume of Sale of Fast Foods and Genetically Modified Foods The effects of fast foods and genetically modified foods on the health of Arizona citizens are catastrophic. The control of such outlets and businesses is crucial.
• Researching of Genetic Engineering DNA technology entails the sequencing, evaluation and cut-and-paste of DNA. The following paper analyzes the historical developments, techniques, applications, and controversies.
• Genetically Modified Crops: Impact on Human Health The aim of this paper is to provide some information about genetically modified crops as well as highlight the negative impacts of genetically modified soybeans on human health.
• Genetic Engineering Biomedical Ethics Perspectives Diverse perspectives ensure vivisection, bio, and genetic engineering activities, trying to deduce their significance in evolution, medicine, and society.
• Down Syndrome: The Genetic Disorder Down syndrome is the result of a glandular or chemical disbalance in the mother at the time of gestation and of nothing else whatsoever.
• Genetic Modifications: Advantages and Disadvantages Genetic modifications of fruits and vegetables played an important role in the improvement process of crops and their disease resistance, yields, eating quality and shelf life.
• Labeling of Genetically Modified Products Regardless of the reasoning behind the labeling issue, it is ethical and good to label the food as obtained from genetically modified ingredients for the sake of the consumers.
• Convergent Evolution, Genetics and Related Structures This paper discusses the concept of convergent evolution and related structures. Convergent evolution describes the emergence of analogous or similar traits in different species.
• Genetic Technologies in the Healthcare One area where genetic technology using DNA works for the benefit of society is medicine, as it will improve the treatment and management of genetic diseases.
• Are Genetically Modified Organisms Really That Bad? Almost any food can be genetically modified: meat, fruits, vegetables, etc. Many people argue that consuming products, which have GMOs may cause severe health issues.
• Type 1 Diabetes in Children: Genetic and Environmental Factors The prevalence rate of type 1 diabetes in children raises the question of the role of genetic and environmental factors in the increasing cases of this illness.
• Discussion of Genetic Testing Aspects The primary aim of the adoption process is to ensure that the children move into a safe and loving environment.
• The Normal Aging Process and Its Genetic Basis Various factors can cause some genetic disorders linked to premature aging. The purpose of this paper is to talk about the genetic basis of the normal aging process.
• Defending People’s Rights Through GMO Labels Having achieved mandatory labeling of GMOs, the state and other official structures signal manufacturers of goods about the need to respect customers’ rights.
• Epigenetics: Definition and Family History Epigenetics refers to the learning of fluctuations in creatures induced by gene expression alteration instead of modification of the ‘genetic code itself.
• Genetically Modified Organisms in Aquaculture Genetically Modified Organisms are increasingly being used in aquaculture. They possess a unique genetic combination that makes them uniquely suited to their environment.
• Genetic Modification of Organisms to Meet Human Needs Genetic modification of plants and animals for food has increased crop yields as the modified plants and animals have more desirable features such as better production.
• Discussion of Epigenetics Meanings and Aspects The paper discusses epigenetics – the study of how gene expression takes place without changing the sequence of DNA.
• Genetic Testing and Bill of Rights and Responsibilities Comparing the Patient Bill of Rights or Patient Rights and Responsibilities of UNMC and the Nebraska Methodist, I find that the latter is much broader.
• Genetically Modified Products: Positive and Negative Sides This paper considers GMOs a positive trend in human development due to their innovativeness and helpfulness in many areas of life, even though GMOs are fatal for many insects.
• Overview of African Americans’ Genetic Diseases African Americans are more likely to suffer from certain diseases than white Americans, according to numerous studies.
• Genetically Modified Fish: The Threats and Benefits This article’s purpose is to evaluate possible harm and advantages of genetically modified fish. For example, the GM fish can increase farms’ yield.
• DNA and the Birth of Molecular Genetics Molecular genetics is critical in studying traits that are passed through generations. The paper analyzes the role of DNA to provide an ample understanding of molecular genetics.
• Genetic Linkage Disorders: An Overview A receptor gene in the human chromosome 9 is the causative agent of most blood vessel disorders. Moreover, blood vessel disorders are the major cause of heart ailments.
• Natural Selection and Genetic Variation The difference in the genetic content of organisms is indicative that certain group of organisms will stay alive, and effectively reproduce than other organisms residing in the same environment.
• Genetically Modified Foods: How Safe are they? This paper seeks to address the question of whether genetically modified plants meant for food production confer a threat to human health and the environment.
• The role of genes in our food preferences.
• The molecular mechanisms of aging and longevity.
• Genomic privacy: ways to protect genetic information.
• The effects of genes on athletic performance.
• CRISPR-Cas9 gene editing: current applications and future perspectives.
• Genetic underpinnings of human intelligence.
• The genetic foundations of human behavior.
• The role of DNA analysis in criminal justice.
• The influence of genetic diversity on a species’ fate.
• Genetic ancestry testing: the process and importance.
• The Genetic Material Sequencing This experiment is aimed at understanding the real mechanism involved in genetic material sequencing through nucleic acid hybridization.
• Genetically Modified Organisms in Human Food This article focuses on Genetically Modified Organisms as they are used to produce human food in the contemporary world.
• Genetics and Public Health: Disease Control and Prevention Public health genomics may be defined as the field of study where gene sequences can be used to benefit society.
• Genetic Disorder Cystic Fibrosis Cystic fibrosis is a genetic disorder. The clinical presentation of the disease is evident in various organs of the body as discussed in this paper.
• The Study of the Epigenetic Variation in Monozygotic Twins The growth and development of an organism result in the activation and deactivation of different parts due to chemical reactions at strategic periods and locations
• Human Genome and Application of Genetic Variations Human genome refers to the information contained in human genes. The Human Genome Project (HGP) focused on understanding genomic information stored in the human DNA.
• Genetic Alterations and Cancer The paper will discuss cancer symptoms, causes, diagnosis, treatment, side-effects of treatment, and also its link with a genetic alteration.
• Saudi Classic Aniridia Genetic and Genomic Analysis This research was conducted in Saudi Arabia to determine the genetic and genomic alterations that underlie classic anirida.
• What Makes Humans Mortal Genetically? The causes of aging have been studied and debated about by various experts for centuries, there multiple views and ideas about the reasons of aging and.
• Decision Tree Analysis and Genetic Algorithm Methods Application in Healthcare The paper investigates the application of such methods of data mining as decision tree analysis and genetic algorithm in the healthcare setting.
• Genetic Screening and Testing The provided descriptive report explains how genetic screening and testing assists clinicians in determining cognitive disabilities in babies.
• Neurobiology: Epigenetics in Cocaine Addiction Studies have shown that the addiction process is the interplay of many factors that result in structural modifications of neuronal pathways.
• Genetic (Single Nucleotide Polymorphisms) Analysis of Genome The advancement of the SNP technology in genomic analysis has made it possible to achieve cheap, effective, and fast methods for analyzing personal genomes.
• Darwin’s Theory of Evolution: Impact of Genetics New research proved that genetics are the driving force of evolution which causes the revision of some of Darwin’s discoveries.
• Genetic Tests: Pros and Cons Genetic testing is still undergoing transformations and further improvements, so it may be safer to avoid such procedures under certain circumstances.
• Case on Preserving Genetic Mutations in IVF In the case, a couple of a man and women want to be referred to an infertility specialist to have a procedure of in vitro fertilization (IVF).
• Race: Genetic or Social Construction One of the most challenging questions the community faces today is the following: whether races were created by nature or society or not.
• Huntington’s Chorea Disease: Genetics, Symptoms, and Treatment Huntington’s chorea disease is a neurodegenerative heritable disease of the central nervous system that is eventually leading to uncontrollable body movements and dementia.
• Genetics: A Frameshift Mutation in Human mc4r This article reviews the article “A Frameshift Mutation in Human mc4r Is Associated With Dominant Form of Obesity” published by C. Vaisse, K. Clement, B. Guy-Grand & P. Froguel.
• DNA Profiling: Genetic Variation in DNA Sequences The paper aims to determine the importance of genetic variation in sequences in DNA profiling using specific techniques.
• Genetic Diseases: Hemophilia This article focuses on a genetic disorder such as hemophilia: causes, symptoms, history, diagnosis, and treatment.
• Genetics: Gaucher Disease Type 1 The Gaucher disease type 1 category is a genetically related complication in which there is an automatic recession in the way lysosomes store some important gene enzymes.
• Genetic Science Learning Center This paper shall seek to present an analysis of sorts of the website Learn Genetics by the University of Utah.
• What Is Silencer Rna in Genetics RNA silencing is an evolutionary conserved intracellular surveillance system based on recognition. RNA silencing is induced by double-stranded RNA sensed by the enzyme Dicer.
• Cystic Fibrosis: Genetic Disorder Cystic fibrosis, also referred to as CF, is a genetic disorder that can affect the respiratory and digestive systems.
• Genetics or New Pharmaceutical Article Within the Last Year Copy number variations (CNVs) have more impacts on DNA sequence within the human genome than single nucleotide polymorphisms (SNPs).
• Genetic Disorders: Diagnosis, Screening, and Treatment Chorionic villus is a test of sampling done especially at the early stages of pregnancy and is used to identify some problems which might occur to the fetus.
• Research of Genetic Disorders Types This essay describes different genetic disorders such as hemophilia, turner syndrome and sickle cell disease (SCD).
• Genetic Mechanism of Colorectal Cancer Colorectal Cancer (CRC) occurrence is connected to environmental factors, hereditary factors, and individual ones.
• Isolated by Genetics but Longing to Belong The objective of this paper is to argue for people with genetic illnesses to be recognized and appreciated as personages in all institutions.
• Genetic Association and the Prognosis of Phenotypic Characters The article understudy is devoted to the topic of genetic association and the prognosis of phenotypic characters. The study focuses on such a topic as human iris pigmentation.
• The Concept of Epigenetics Epigenetics is a study of heritable phenotypic changes or gene expression in cells that are caused by mechanisms other than DNA sequence.
• PiggyBac Transposon System in Genetics Ideal delivery systems for gene therapy should be safe and efficient. PB has a high transposition efficiency, stability, and mutagenic potential in most mammalian cell lines.
• Genetic Factors as the Cause of Anorexia Nervosa Genetic predisposition currently seems the most plausible explanation among all the proposed etiologies of anorexia.
• Bioethical Issues in Genetic Analysis and Manipulations We are currently far from a point where we can claim that we should be providing interventions to some and not others due to their genetic makeup.
• GMO Use in Brazil and Other Countries The introduction of biotechnology into food production was a milestone. Brazil is one of the countries that are increasingly using GMOs for food production.
• Personality Is Inherited Principles of Genetics The present articles discusses the principles of genetics, and how is human temperament and personality formed.
• The Effects of Genetic Modification of Agricultural Products Discussion of the threat to the health of the global population of genetically modified food in the works of Such authors as Jane Brody and David Ehrenfeld.
• Genetic foundations of rare diseases.
• Genetic risk factors for neurodegenerative disorders.
• Inherited cancer genes and their impact on tumor development.
• Genetic variability in drug metabolism and its consequences.
• The role of genetic and environmental factors in disease development.
• Genomic cancer medicine: therapies based on tumor DNA sequencing.
• Non-invasive prenatal testing: benefits and challenges.
• Genetic basis of addiction.
• The origins of domestication genes in animals.
• How can genetics affect a person’s injury susceptibility?
• Genetic Engineering in Food and Freshwater Issues The technology of bioengineered foods, genetically modified, genetically engineered, or transgenic crops, will be an essential element in meeting the challenging population needs.
• Genetic Engineering and Religion: Designer Babies The current Pope has opposed any scientific procedure, including genetic engineering, in vitro fertilization, and diagnostic tests to see if babies have disabilities.
• Op-ED Genetic Engineering: The Viewpoint The debate about genetic engineering was started more than twenty years ago and since that time it has not been resolved
• All About the Role of Genetic Engineering and Biopiracy The argument whether genetically engineered seeds have monopolized the market in place of the contemporary seeds has been going on for some time now.
• Genetic Engineering and Cloning Controversy Genetic engineering and cloning are the most controversial issues in modern science. The benefits of cloning are the possibility to treat incurable diseases and increase longevity.
• Biotechnology: Methodology in Basic Genetics The material illustrates the possibilities of ecological genetics, the development of eco-genetical models, based on the usage of species linked by food chain as consumers and producers.
• Genetics Impact on Health Care in the Aging Population This paper briefly assesses the impact that genetics and genomics can have on health care costs and services for geriatric patients.
• Concerns Regarding Genetically Modified Food It is evident that genetically modified food and crops are potentially harmful. Both humans and the environment are affected by consequences as a result of their introduction.
• Family Genetic History and Planning for Future Wellness The patient has a family genetic history of cardiac arrhythmia, allergy, and obesity. These diseases might lead to heart attacks, destroy the cartilage and tissue around the joint.
• Personal Genetics and Risks of Diseases Concerning genetics, biographical information includes data such as ethnicity. Some diseases are more frequent in specific populations as compared to others.
• Genetic Predisposition to Alcohol Dependence and Alcohol-Related Diseases The subject of genetics in alcohol dependence deserves additional research in order to provide accurate results.
• Genetically-Modified Fruits, Pesticides, or Biocontrol? The main criticism of GMO foods is the lack of complete control and understanding behind GMO processes in relation to human consumption and long-term effects on human DNA.
• Genetic Variants Influencing Effectiveness of Exercise Training Programmes “Genetic Variants Influencing Effectiveness of Exercise Training Programmes” studies the influence of most common genetic markers that indicate a predisposition towards obesity.
• Eugenics, Human Genetics and Their Societal Impact Ever since the discovery of DNA and the ability to manipulate it, genetics research has remained one of the most controversial scientific topics of the 21st century.
• Genetic Interference in Caenorhabditis Elegans The researchers found out that the double-stranded RNA’s impact was not only the cells, it was also on the offspring of the infected animals.
• Genetics and Autism Development Autism is associated with a person’s genetic makeup. This paper gives a detailed analysis of this condition and the role of genetics in its development.
• Genetically Modified Food Safety and Benefits Today’s world faces a problem of the shortage of food supplies to feed its growing population. The adoption of GM foods can solve the problem of food shortage in several ways.
• Start Up Company: Genetically Modified Foods in China The aim of establishing the start up company is to develop the scientific idea of increasing food production using scientific methods.
• Community Health Status: Development, Gender, Genetics Stage of development, gender and genetics appear to be the chief factors that influence the health status of the community.
• Homosexuality as a Genetic Characteristic The debate about whether homosexuality is an inherent or social parameter can be deemed as one of the most thoroughly discussed issues in the contemporary society.
• Autism Spectrum Disorder in Twins: Genetics Study Autism spectrum disorder is a behavioral condition caused by genetic and environmental factors. Twin studies have been used to explain the hereditary nature of this condition.
• Why Is the Concept of Epigenetics So Fascinating? Epigenetics has come forward to play a significant role in the modern vision of the origin of illnesses and methods of their treatment, which results in proving to be fascinating.
• Epigenetics and Its Effect on Physical and Mental Health This paper reviews a research article and two videos on epigenetics to developing an understanding of the phenomenon and how it affects individuals’ physical and mental health.
• Genetic Counseling for Cystic Fibrosis Some of the inherited genes may predispose individuals to specific health conditions like cystic fibrosis, among other inheritable diseases.
• Patent on Genetic Discoveries and Supreme Court Decision Supreme Court did not recognize the eligibility of patenting Myriad Genetics discoveries due to the natural existence of the phenomenon.
• Genetic Testing, Its Background and Policy Issues This paper will explore the societal impacts of genetic research and its perceptions in mass media, providing argumentation for support and opposition to the topic.
• Genetically Modified Organisms and Future Farming There are many debates about benefits and limitations of GMOs, but so far, scientists fail to prove that the advantages of these organisms are more numerous than the disadvantages.
• Mitosis, Meiosis, and Genetic Variation According to Mendel’s law of independent assortment, alleles for different characteristics are passed independently from each other.
• Genetic Counseling and Hypertension Risks This paper dwells upon the peculiarities of genetic counseling provided to people who are at risk of developing hypertension.
• The Perspectives of Genetic Engineering in Various Fields Genetic engineering can be discussed as having such potential benefits for the mankind as improvement of agricultural processes, environmental protection, resolution of the food problem.
• Labeling Food With Genetically Modified Organisms The wide public has been concerned about the issue of whether food products with genetically modified organisms should be labeled since the beginning of arguments on implications.
• Diabetes Genetic Risks in Diagnostics The introduction of the generic risks score in the diagnosis of diabetes has a high potential for use in the correct classification based on a particular type of diabetes.
• Residence and Genetic Predisposition to Diseases The study on the genetic predisposition of people to certain diseases based on their residence places emphasizes the influence of heredity.
• Eugenics, Human Genetics and Public Policy Debates Ethical issues associated with human genetics and eugenics have been recently brought to public attention, resulting in the creation of peculiar public policy.
• Value of the Epigenetics Epigenetics is a quickly developing field of science that has proven to be practical in medicine. It focuses on changes in gene activity that are not a result of DNA sequence mutations.
• Genetics Seminar: The Importance of Dna Roles DNA has to be stable. In general, its stability becomes possible due to a large number of hydrogen bonds which make DNA strands more stable.
• Genetically Modified Organisms: Position Against Genetically modified organisms are organisms that are created after combining DNAs of different species to come up with a transgenic organism.
• Genetically Modified Organisms and Their Benefits Scientists believe GMOs can feed everyone in the world. This can be achieved if governments embrace the use of this new technology to create genetically modified foods.
• Food Science and Technology of Genetic Modification Genetically modified foods have elicited different reactions all over the world with some countries banning its use while others like the United States allowing its consumption.
• How Much can We Control Our Genetics, at What Point do We Cease to be Human? The branch of biology that deals with variation, heredity, and their transmission in both animals and the plant is called genetics.

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• How does genetic testing in a research setting differ from clinical genetic testing?

The main differences between clinical genetic testing and research testing are the purpose of the test and who receives the results. The goals of research testing include finding unknown genes, learning how genes work, developing tests for future clinical use, and advancing our understanding of genetic conditions. The results of testing done as part of a research study are usually not available to patients or their healthcare providers. Clinical testing, on the other hand, is done to find out about an inherited disorder in an individual patient or family. People receive the results of a clinical test and can use them to help them make decisions about medical care or reproductive issues.

It is important for people considering genetic testing to know whether the test is available on a clinical or research basis. Clinical and research testing both involve a process of informed consent in which patients learn about the testing procedure, the risks and benefits of the test, and the potential consequences of testing.

Topics in the Genetic Testing chapter

• What is genetic testing?
• What are the different types of genetic tests?
• What are the uses of genetic testing?
• How is genetic testing done?
• What is informed consent?
• How can I be sure a genetic test is valid and useful?
• What do the results of genetic tests mean?
• What is the cost of genetic testing, and how long does it take to get the results?
• Will health insurance cover the costs of genetic testing?
• What are the benefits of genetic testing?
• What are the risks and limitations of genetic testing?
• What is genetic discrimination?
• Can genes be patented?
• How are genetic screening tests different from genetic diagnostic tests?
• What are whole exome sequencing and whole genome sequencing?
• What are secondary findings from genetic testing?
• What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?
• What is circulating tumor DNA and how is it used to diagnose and manage cancer?

Other chapters in Help Me Understand Genetics

Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. Learn more

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Main Content

Genetics - research topics.

The following Research Topics are led by experts in their field and contribute to the scientific understanding of genetics. These Research topics are published in the peer-reviewed journal Frontiers in Genetics , as open access articles .

The Role of Growth Factors and Their Receptors in Genetic Disorders

With the advent of next-generation technologies, a large number of genetic diseases have been characterized with the causative genes and gene modifiers. Different developmental anomalies arise as a result of genetic alterations in growth factor genes...

Applications of Mechanistic Modelling for Understanding Human Health and Disease

Mechanistic modeling is a powerful tool for elucidating and probing the behaviors of complex biological systems. By developing mathematical representations based on a deep understanding of biological mechanisms, mechanistic models can provide valuabl...

Understanding Molecular Mechanisms to Facilitate the Development of Biomarkers for Therapeutic Intervention in Gastrointestinal Diseases and Sepsis

This research topic aims to provide an overview of the most recent advancements in understanding molecular mechanisms to develop biomarkers that can be selectively addressed to enhance the diagnosis, prognosis, and therapeutic interventions in gastro...

Integrating Genetics and Proteomics for Drug Discovery

In the past decades, quickly evolving sequencing technology accompanied with big data in computational science has driven a lot of novel medical applications, especially enabling the discovery of associations and causalities. Genome-wide association ...

Advances and Trends in Gene Expression, Regulation, and Phenotypic Variation in Livestock Science: A Comprehensive Review of Methods and Technologies

The introduction of next-generation sequencing (NGS) as well as long-read sequencing technologies has revolutionized the landscape. Over two decades, these technologies have provided high-throughput delivery of genomic data that is more affordable, e...

Nutrients as Regulators of Metabolism: a Genomic Perspective

Our daily diet is more than a collection of carbohydrates, lipids and proteins, minerals and vitamins that provide energy and serve as building blocks of our life, it is also the most dominant environmental signal to which we are exposed from womb to...

Postharvest Ripening, Senescence, and Technology, Volume II

Fresh fruits and vegetables are invaluable for human health and diet, but their quality deteriorates before reaching consumers due to ongoing processes related to ripening and senescence. The field of postharvest biology and technology addresses many...

Challenges and Prospects for Conservation Genetics at XXI Century

Conservation genetics is a fundamental discipline for planning actions for the species and ecosystems management, conservation, and sustainable use. Initially, this work was carried out through collaborative efforts of research groups, sometimes from...

Genetic Testing In Treatment and Management of Alzheimer’s Disease

Alzheimer’s disease (AD) is a progressive neurodegenerative disorder that affects an estimated 50 million people worldwide. This disease is currently the most common cause of dementia in older adults.<br/><br/>Many people wonder if Alzheimer’s diseas...

Recent advances in Genomics and Oncogenomics for Personalized Medicine

Genomic analysis and related molecular analysis technologies undergo rapid advancements, in principle enabling the identification of any genetic alteration potentially implicated in the pathogenesis of diseases and conditions - for germline analyses ...

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Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8.

Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals.

Appendix g genetic testing.

• Genetic Testing

Genetic testing involves examining a person’s blood or other tissues to determine whether he or she has a change in his or her genetic material. Genetic testing may be useful in determining whether an individual has a genetic condition or may develop one in the future. The information gained from genetic testing may be helpful in a number of ways such as diagnosing a genetic disease, starting treatment, or initiating prevention strategies, as well as making life decisions such as career choice and family planning. Several types of genetic testing are available, and this appendix provides an overview of the genetic testing available, as well as who may be offered such testing.

• Why Genetic Testing?

Genetic testing may be offered for a number of different reasons including:

• To confirm or rule out a diagnosis in an individual with symptoms of a genetic condition
• For individuals with a family history of or a previous child with a genetic condition
• To locate possible genetic conditions in newborn babies so treatment may be started immediately
• How Is Genetic Testing Performed?

Genetic testing involves analyzing an individual’s blood, skin, hair, or other body tissue to look at his or her DNA, chromosomes, or proteins for a change, or mutation, that is associated with a genetic condition. When a mutation occurs, it may affect all or part of a gene and can result in an abnormal function leading to disease. Three major types of genetic testing are available in laboratories: cytogenetic (to examine whole chromosomes), biochemical (to measure protein produced by genes), and molecular (to look for small DNA mutations). (See Chapter 2 and Appendix I for more information.)

• What Types of Genetic Testing Are There?

Newborn screening is the most widespread use of genetic testing. (See Chapter 4 for more information about newborn screening.) Almost every newborn in the U.S. is screened for several genetic diseases. Early detection of these diseases can lead to interventions to prevent the onset of symptoms or minimize disease severity.

Carrier testing can be used to help couples to learn if they carry—and thus risk passing to their children—an allele for a recessive condition such as cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. This type of testing is typically offered to individuals who have a family history of a genetic disorder and to people in ethnic groups with an increased risk of specific genetic conditions. If both parents are tested, the test can provide information about a couple’s chance of having a child with a genetic condition.

Prenatal diagnostic testing is used to detect changes in a fetus’ genes or chromosomes. This type of testing is offered to couples with an increased chance of having a baby with a genetic or chromosomal disorder. A tissue sample for testing can be obtained through amniocentesis or chorionic villus sampling. (See Appendix E for more information.)

Genetic tests may be used to confirm a diagnosis in a symptomatic individual or to monitor prognosis of a disease or response to treatment.

Predictive or predispositional genetic testing can identify individuals at risk of getting a disease prior to the onset of symptoms. These tests are particularly useful if an individual has a family history of a specific disease and an intervention is available to prevent the onset of disease or minimize disease severity. Predictive testing can identify mutations that increase a person’s risk of developing disorders with a genetic basis such as certain types of cancer.

Forensic testing is used for identification, not to identify individuals at risk for a genetic disease. Forensic testing is performed for legal purposes such as criminal investigations, questions of paternity, and identification after catastrophic events such as Hurricane Katrina.

• Who Should Consider Genetic Testing?

When deciding whether or not to get a genetic test for yourself or a family member, several issues need to be considered, both from a medical and an emotional standpoint. Genetic testing may provide a diagnosis and help provide information for symptom management, treatment, or lifestyle changes. However, genetic testing has limitations. When a genetic test detects a mutation, the test cannot always determine when or what symptoms of the condition may show, which symptoms will occur first, how severe the condition will be, or how the condition will progress over time. Even if a test is negative, an individual may still be at risk for a condition.

Due to the complexity of the medical and emotional issues involved in genetic testing, it is important to speak to a health professional such as a genetic counselor to help you understand the benefits and risks of genetic testing and to answer any questions you may have before and after testing. For information on genetic counseling, preparation for a genetic counseling visit, and sample questions to ask healthcare providers, see Appendix O.

• American College of Medical Genetics www.acmg.net .
• GeneTests www.genetests.org.
• National Society of Genetic Counselors www.nsgc.org .
• U.S. National Library of Medicine: Genetics Home Testing http://www.ghr.nlm.nih.gov/

All Genetic Alliance content, except where otherwise noted, is licensed under a Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

• Cite this Page Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8. APPENDIX G, GENETIC TESTING.
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