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Summary Genetic testing is carried out for different purposes: diagnostic, predictive, and reproductive. Diagnostic testing is complementary to other diagnostic techniques, yet it raises issues of confidentiality, privacy, data security, accidental findings, the right not to know and the duty to communicate valuable information to genetically related relatives. Predictive and reproductive testing are even more problematic. Predictive testing may raise different issues at the individual and population level (screening). At both the individual and the population level, it raises the issues of voluntariness, informed consent, legislative protection against discrimination. Reproductive testing raises issues of eugenics, nondirectiveness in reproductive decisions, and reproductive rights. Inequalities in access to testing technology and genetic counselling raise issues of justice. Other questions concern genetic knowledge itself: when is a genetic test sufficiently sensitive and reliable, when are its results adequately interpreted, in order for the test to be made available to individuals, commercialised, or offered to the population at large by health care institutions.
Key works Doukas & Berg 2001 and Brock 2001 offer a good and influential discussion of the conflict between confidentiality and the duty to prevent harm when a genetic test subject refuses to disclose own genetic information which might be relevant to a relative and allow an third party to prevent severe harm to herself. Beckman 2004 analyzes genetic self-tests and argues that while misperceptions and misunderstandings of genetic information compromise autonomy, genetic information does not (even if it causes anxiety, distress, and loss of life hope). Vehmas 2001 discusses whether prospective parents ought to find out about their genetic constitution for reproductive reasons and defends the parental right not to know. Influentially, Rhodes 1998 argues that no one has the right to remain in ignorance. Takala 1999 and Takala & Häyry 2000 defend the right not to know against Rhodes' attack. Rebecca 2001 defends the right of the woman to reject prenatal genetic testing. Savulescu 2001 argues that couples or single reproducers have a prima facie moral duty to select the embryo with the best life prospects,  selecting against harmful genetic susceptibilities and in favor of beneficial ones.
Introductions Robertson & Savulescu 2001 MacDonald & Williams-Jones 2002
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  1. Pre-existing conditions: Genetic testing, causation and the justice of medical insurance.Robert Pennock - manuscript
    In Rosamond Rhodes, Leslie Francis & Anita Silvers (eds.) Blackwell Guide to Medical Ethics. (Ch. 23, pp. 407-424, 2006).
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  2. International Aspects of Genetic Discrimination in Human Genome Research and Society.P. R. Billings - forthcoming - Proceedings of the Second International Bioethics Seminar.
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  3. Genetic Screening: Ethical Issues.Nuffield Council On Bioethics - forthcoming - Nuffield Bioethics, Uk.
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  4. Expanding Newborn Screening.Jeffreyr Botkin & Preventiveservices Ta Skforce - forthcoming - Hastings Center Report.
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  5. Privacy, the individual and genetic information: A buddhist perspective.Ts Champlin - forthcoming - Bioethics.
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  6. Reforming Informed Consent: On Disability and Genetic Counseling.Elizabeth Dietz & Joel Michael Reynolds - forthcoming - In Michael J. Deem, Emily Farrow & Robin Grubs (eds.), The Oxford Handbook of Genetic Counseling. Oxford: Oxford University Press.
    Informed consent is a central concept for empirical and theoretical research concerning pregnancy management decisions and is often taken to be one of the more fundamental goals of the profession of genetic counseling. Tellingly, this concept has been seen by disability communities as salutary, despite longstanding critiques made by disability activists, advocates, and scholars concerning practices involved in genetic counseling more generally. In this chapter, we show that the widespread faith in informed consent is misleading and can be detrimental to (...)
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  7. The role of sentinel lymph node biopsy in breast cancer diagnosis.N. Dordevic, S. Filipovic & M. Pesic - forthcoming - Facta Universitatis, Series: Linguistics and Literature.
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  8. Incidental findings of uncertain significance: To know or not to know - that is not the question.Bjørn Hofmann - forthcoming - Most Recent Articles: Bmc Medical Ethics.
    Although the “right not to know” is well established in international regulations, it has been heavily debated. Ubiquitous results from extended exome and genome analysis have challenged the right not to know...
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  9. Bioethical aspects of medical applications of human genome and gene therapy projects in Russia.Vladimir I. Ivanov - forthcoming - Bioethics in Asia. The Proceedings of the Unesco Asian Bioethics Conference and the Who-Assisted Satellite Symposium on Medical Genetics Services.
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  10. F12. Background of the proposed guidelines for genetic counselling and testing in Japan.Ichiro Matsuda - forthcoming - Bioethics in Asia: The Proceedings of the Unesco Asian Bioethics Conference (Abc'97) and the Who-Assisted Satellite Symposium on Medical Genetics Services, 3-8 Nov, 1997 in Kobe/Fukui, Japan, 3rd Murs Japan International Symposium, 2nd Congress of the Asi.
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  11. Every child is priceless: debating effective newborn screening policy.Virginia Moyer, Ned A. Calonge, Steven M. Teutsch & Jeffrey Botkin - forthcoming - Hastings Center Report.
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  12. Population screening.Ainsley J. Newson & A. Dawson - forthcoming - Public Health Ethics. Key Concepts and Issues in Policy and Practice:118--42.
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  13. ""6.6. The Visual Transcription of" Family Disease": A Comparison of the Use of Medical Pedigrees in Canadian & Japanese Genetic Counselling Practices. [REVIEW]Yoshio Nukaga - forthcoming - Bioethics in Asia: The Proceedings of the Unesco Asian Bioethics Conference (Abc'97) and the Who-Assisted Satellite Symposium on Medical Genetics Services, 3-8 Nov, 1997 in Kobe/Fukui, Japan, 3rd Murs Japan International Symposium, 2nd Congress of the Asi.
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  14. 6.7. Ethical Issues on the Provision of Genetic Services to the Asian Population of New York City.Victor B. Penchaszadeh & Diana PuZales-Morejon - forthcoming - Bioethics in Asia: The Proceedings of the Unesco Asian Bioethics Conference (Abc'97) and the Who-Assisted Satellite Symposium on Medical Genetics Services, 3-8 Nov, 1997 in Kobe/Fukui, Japan, 3rd Murs Japan International Symposium, 2nd Congress of the Asi.
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  15. Presymptomatic Genetic Testing in Children.Kimberly A. Quaid - forthcoming - Pediatric Bioethics.
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  16. F25. The Present State of and Issues Concerning Preimplantation Diagnosis.Kaoru Suzumori - forthcoming - Bioethics in Asia: The Proceedings of the Unesco Asian Bioethics Conference (Abc'97) and the Who-Assisted Satellite Symposium on Medical Genetics Services, 3-8 Nov, 1997 in Kobe/Fukui, Japan, 3rd Murs Japan International Symposium, 2nd Congress of the Asi.
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  17. Multiplex Genetic Testing.American Medical Association The Council on Ethical and Judicial Affairs - forthcoming - Hastings Center Report.
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  18. F14. Panel Discussion on Medical Genetic Services and Bioethic Trends in Different Countries.Ishwar C. Verma - forthcoming - Bioethics in Asia: The Proceedings of the Unesco Asian Bioethics Conference (Abc'97) and the Who-Assisted Satellite Symposium on Medical Genetics Services, 3-8 Nov, 1997 in Kobe/Fukui, Japan, 3rd Murs Japan International Symposium, 2nd Congress of the Asi.
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  19. Attitudes of deaf individuals towards genetic testing of genes known to cause hearing loss.Katherine L. Mascia & Nathaniel H. Robin - 2023 - Clinical Ethics 18 (2):230-235.
    Congenital deafness is one of the most common birth defects reported. Approximately 70% of congenital deafness is non-syndromic, and approximately 80% of non-syndromic hearing loss results from a genetic cause. Middleton et al.’s1998 study highlighted the negative attitudes of culturally Deaf individuals towards genetic testing for genes known to cause hearing loss. While studies concerning genetic testing for deafness genes reference Middleton’s study, to our knowledge a re-evaluation of the attitudes of Deaf individuals towards genetic testing has not been conducted (...)
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  20. A practical checklist for return of results from genomic research in the European context.Danya F. Vears, Signe Mežinska, Nina Hallowell, Heidi Beate Hallowell, Bridget Ellul, Therese Haugdahl Nøst, , Berge Solberg, Angeliki Kerasidou, Shona M. Kerr, Michaela Th Mayrhofer, Elizabeth Ormondroyd, Birgitte Wirum Sand & Isabelle Budin-Ljøsne - 2023 - European Journal of Human Genetics 1:1-9.
    An increasing number of European research projects return, or plan to return, individual genomic research results (IRR) to participants. While data access is a data subject’s right under the General Data Protection Regulation (GDPR), and many legal and ethical guidelines allow or require participants to receive personal data generated in research, the practice of returning results is not straightforward and raises several practical and ethical issues. Existing guidelines focusing on return of IRR are mostly project-specific, only discuss which results to (...)
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  21. Access to Expanded Prenatal Genetic Testing: Response to Open Peer Commentaries.Michelle J. Bayefsky & Benjamin E. Berkman - 2022 - American Journal of Bioethics 22 (5):1-3.
    We would like to thank the authors of the excellent Open Peer Commentaries on our target article, “Implementing Expanded Prenatal Genetic Testing: Should Parents Have Access to Any and All Fetal Ge...
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  22. Genetic Testing Is Messier in Practice than in Theory: Lessons from Neonatology.Chris Feudtner & Katharine Press Callahan - 2022 - American Journal of Bioethics 22 (2):37-39.
    What is the future of genetic testing during pregnancy likely to look like? Given that the patterns of use of genetic testing in neonatology tend to precede, and thus predict, patterns of prenatal...
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  23. Anti-Selection & Genetic Testing in Insurance: An Interdisciplinary Perspective.Dexter Golinghorst, Aisling de Paor, Yann Joly, Angus S. Macdonald, Margaret Otlowski, Richard Peter & Anya E. R. Prince - 2022 - Journal of Law, Medicine and Ethics 50 (1):139-154.
    Anti-selection occurs when information asymmetry exists between insurers and applicants. When an applicant knows they are at high risk of loss, but the insurer does not, the applicant may try to use this knowledge differential to secure insurance at a lower premium that does not match risk.
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  24. Davidson on Pure Intending: A Non-Reductionist Judgement-Dependent Account.Ali Hossein Khani - 2022 - Dialogue 61 (2):369-391.
    RésuméJe soutiendrai que la façon dont Davidson rend compte de l'intention pure peut être comprise comme une analyse de l'intention comme étant relative à un jugement dans une perspective en première personne. Selon Davidson, avoir la pure intention de faire A, c'est formuler un jugement tout bien considéré qu'il est désirable de faire A. Dans cette analyse anti-réductionniste, l'intention est traitée comme un état irréductible du sujet. J’établirai une comparaison entre cette analyse et celle de Wright et je montrerai comment (...)
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  25. Davidson on Pure Intending: A Non-Reductionist Judgement-Dependent Account.Ali Hossein Khani - 2022 - Dialogue 61 (2):369-391.
    RésuméJe soutiendrai que la façon dont Davidson rend compte de l'intention pure peut être comprise comme une analyse de l'intention comme étant relative à un jugement dans une perspective en première personne. Selon Davidson, avoir la pure intention de faire A, c'est formuler un jugement tout bien considéré qu'il est désirable de faire A. Dans cette analyse anti-réductionniste, l'intention est traitée comme un état irréductible du sujet. J’établirai une comparaison entre cette analyse et celle de Wright et je montrerai comment (...)
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  26. Intertwined Interests in Expanded Prenatal Genetic Testing: The State’s Role in Facilitating Equitable Access.Kathryn MacKay, Zuzana Deans, Isabella Holmes, Ainsley J. Newson & Lisa Dive - 2022 - American Journal of Bioethics 22 (2):45-47.
    In their analysis of how much fetal genetic information prospective parents should be able to access, Bayefsky and Berkman determine that parents should only be able to access information th...
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  27. The Serious Factor in Expanded Prenatal Genetic Testing.Vardit Ravitsky, Anne-Marie Laberge, Marie-Christine Roy, Bartha Knoppers, Vasiliki Rahimzadeh & Erika Kleiderman - 2022 - American Journal of Bioethics 22 (2):23-25.
    Bayefsky and Berkman argue in favor of evidence-based policy development for expanded prenatal genetic testing. They propose to identify what kinds of information pregnant persons, their par...
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  28. Privacy, autonomy and direct-to-consumer genetic testing: a response to Vayena.Kyle van Oosterum - 2022 - Journal of Medical Ethics 48 (10):774-775.
    In Vayena’s article, ‘direct-to-consumer (DTC) genomics on the scales of autonomy’, she claims that there may be a strong autonomy-based argument for permitting DTC genomic services. In this response, I point out how the diminishment of one’s genetic privacy can cause a relevant autonomy-related harm which must be balanced against the autonomy-related gains DTC services provide. By drawing on conceptual connections between privacy and the Razian conception of autonomy, I show that DTC genetic testing may decrease the range of valuable (...)
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  29. Preimplantation Genetic Testing: An Orthodox-Christian Reflection on the Ethical Issues.Р.Е Тарабрин - 2022 - Bioethics 15 (1):40-45.
    Background: Preimplantation genetic testing is used in In Vitro Fertilization to identify genetic abnormalities in embryos. Genetically defective embryos are not transferred to the uterus, resulting in a higher percentage of healthy babies born. Aim: to study the ethical problems of using preimplantation genetic testing in Orthodox Christian discourse. Materials and methods: An analysis of the provisions of Orthodox ethics, expressed in the church resolutions of the Russian Orthodox Church and the general church teaching on morality, was carried out in (...)
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  30. Regulatory and medical aspects of direct-to-consumer genetic testing.M. Sharkey Catherine, Michael Xiaohan Wu & Kenneth Offit F. Walsh - 2021 - In I. Glenn Cohen, Nita A. Farahany, Henry T. Greely & Carmel Shachar (eds.), Consumer genetic technologies: ethical and legal considerations. Cambridge University Press.
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  31. The Good and the Goal of Pre-conception and Pre-natal Genetic Testing from a Catholic Perspective.Kevin Fitzgerald - 2021 - In Megan A. Allyse & Marsha Michie (eds.), Born Well: Prenatal Genetics and the Future of Having Children. Springer Verlag. pp. 93-103.
    In the United States in particular, one institution that consistently resisted the social momentum to implement eugenic public policies was the Catholic Church. From the Catholic perspective, everyone is worthy, and the focus should be on figuring out how best to care for each individual human being, with access to scarce resources given first to those who need them the most. This chapter addresses the ethical challenge of eugenics and genetic technologies, including preconception and pre-natal genetic testing and genome editing, (...)
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  32. Liability implications of direct-to-consumer genetic testing.E. Marchant Gary, Ellen Mark Barnes, Susan W. Clayton & M. Wolf - 2021 - In I. Glenn Cohen, Nita A. Farahany, Henry T. Greely & Carmel Shachar (eds.), Consumer genetic technologies: ethical and legal considerations. Cambridge University Press.
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  33. Privacy best practices for direct-to-consumer genetic testing services : are industry efforts at self-regulation sufficient?James W. Hazel - 2021 - In I. Glenn Cohen, Nita A. Farahany, Henry T. Greely & Carmel Shachar (eds.), Consumer genetic technologies: ethical and legal considerations. Cambridge University Press.
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  34. Losing our minds? direct-to-consumer genetic testing and Alzheimer's disease.Emily Largent - 2021 - In I. Glenn Cohen, Nita A. Farahany, Henry T. Greely & Carmel Shachar (eds.), Consumer genetic technologies: ethical and legal considerations. Cambridge University Press.
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  35. Eugenics or Not, Prenatal Genetic Testing’s Common Issues Need to Be Addressed.Mark W. Leach - 2021 - In Megan A. Allyse & Marsha Michie (eds.), Born Well: Prenatal Genetics and the Future of Having Children. Springer Verlag. pp. 33-44.
    Critiques of prenatal genetic testing as eugenic have been debated for decades, but this strident debate can obscure ways in which persistent eugenic aspects of prenatal genetic testing can and should be addressed. Comparing arguments and professional guidelines regarding prenatal testing for genetic conditions with those regarding sex selection can provide useful insights into the ways prenatal genetic testing is offered by clinicians and administered by government programs. This chapter addresses the predominant funding models for prenatal genetic testing and ways (...)
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  36. Genetic Testing and Screening of Children.M. B. Menzel & V. N. Madrigal - 2021 - In Nico Nortjé & Johan C. Bester (eds.), Pediatric Ethics: Theory and Practice. Springer Verlag. pp. 313-328.
    Scientific advancements in the genetic testing and screeningGenetic testing and screening of children have provided answers for some and afforded therapies and preventive guidance for others. These benefits have the potential to revolutionize preventive medicine and categorically change outcomes in specific diseases. Ethical challenges emerge, however, when the benefits of testing come with a price related to its inherent ambiguities and uncertainties. Testing a child at risk for a condition of adult onset, for example, has generated tremendous debate and though (...)
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  37. Ethical issues in genomics research on neurodevelopmental disorders: a critical interpretive review.Signe Mezinska, L. Gallagher, M. Verbrugge & E. M. Bunnik - 2021 - Human Genomics 16 (15).
    Background Genomic research on neurodevelopmental disorders (NDDs), particularly involving minors, combines and amplifies existing research ethics issues for biomedical research. We performed a review of the literature on the ethical issues associated with genomic research involving children affected by NDDs as an aid to researchers to better anticipate and address ethical concerns. Results Qualitative thematic analysis of the included articles revealed themes in three main areas: research design and ethics review, inclusion of research participants, and communication of research results. Ethical (...)
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  38. The myth of "anonymous" gamete donation in the age of direct-to-consumer genetic testing.Seema Mohapatra - 2021 - In I. Glenn Cohen, Nita A. Farahany, Henry T. Greely & Carmel Shachar (eds.), Consumer genetic technologies: ethical and legal considerations. Cambridge University Press.
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  39. Access to Prenatal Testing and Ethically Informed Counselling in Germany, Poland and Russia.Marcin Orzechowski, Cristian Timmermann, Katarzyna Woniak, Oxana Kosenko, Galina Lvovna Mikirtichan, Alexandr Zinovievich Lichtshangof & Florian Steger - 2021 - Journal of Personalized Medicine 11 (9):937.
    The development of new methods in the field of prenatal testing leads to an expansion of information that needs to be provided to expectant mothers. The aim of this research is to explore opinions and attitudes of gynecologists in Germany, Poland and Russia towards access to prenatal testing and diagnostics in these countries. Semi-structured interviews were conducted with n = 18 gynecologists in Germany, Poland and Russia. The interviews were analyzed using the methods of content analysis and thematic analysis. Visible (...)
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  40. Can ‘eugenics’ be defended?Walter Veit, J. Anomaly, N. Agar, P. Singer, D. Fleischman & F. Minerva - 2021 - Bioethics Review 39 (1):60–67.
    In recent years, bioethical discourse around the topic of ‘genetic enhancement’ has become increasingly politicized. We fear there is too much focus on the semantic question of whether we should call particular practices and emerging bio-technologies such as CRISPR ‘eugenics’, rather than the more important question of how we should view them from the perspective of ethics and policy. Here, we address the question of whether ‘eugenics’ can be defended and how proponents and critics of enhancement should engage with each (...)
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  41. To offer or request? Disclosing variants of uncertain significance in prenatal testing.Gabriel Watts & Ainsley J. Newson - 2021 - Bioethics (9):900-909.
    The use of genomic testing in pregnancy is increasing, giving rise to questions over how the information that is generated should be offered and returned in clinical practice. While these tests provide important information for prenatal decision-making, they can also generate information of uncertain significance. This paper critically examines three models for approaching the disclosure of variants of uncertain significance (VUS), which can arise from forms of genomic testing such as prenatal chromosomal microarray analysis (CMA). Contrary to prevailing arguments, we (...)
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  42. From Expectations to Experiences: Consumer Autonomy and Choice in Personal Genomic Testing.Jacqueline Savard, Chriselle Hickerton, Sylvia A. Metcalfe, Clara Gaff, Anna Middleton & Ainsley J. Newson - 2020 - AJOB Empirical Bioethics 11 (1):63-76.
    Background: Personal genomic testing (PGT) offers individuals genetic information about relationships, wellness, sporting ability, and health. PGT is increasingly accessible online, including in emerging markets such as Australia. Little is known about what consumers expect from these tests and whether their reflections on testing resonate with bioethics concepts such as autonomy. Methods: We report findings from focus groups and semi-structured interviews that explored attitudes to and experiences of PGT. Focus group participants had little experience with PGT, while interview participants had (...)
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  43. The trust game CRISPR for human germline editing unsettles scientists and society.Matthias Braun & Darian Meacham - 2019 - EMBO Reports 20 (2).
  44. Uncertainty: how it makes science advance.Kostas Kampourakis & Kevin McCain - 2019 - New York: Oxford University Press. Edited by Kevin McCain.
    Scientific knowledge is the most solid and robust kind of knowledge that humans have because of its inherent self-correcting character. Nevertheless, anti-evolutionists, climate denialists, and anti-vaxxers, among others, question some of the best-established scientific findings, making claims unsupported by empirical evidence. A common aspect of these claims is reference to the uncertainties of science concerning evolution, climate change, vaccination, and so on. This is inaccurate: whereas the broad picture is clear, there will always exist uncertainties about the details of the (...)
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  45. Precision Medicine and Big Data: The Application of an Ethics Framework for Big Data in Health and Research.G. Owen Schaefer, E. Shyong Tai & Shirley Sun - 2019 - Asian Bioethics Review 11 (3):275-288.
    As opposed to a ‘one size fits all’ approach, precision medicine uses relevant biological, medical, behavioural and environmental information about a person to further personalize their healthcare. This could mean better prediction of someone’s disease risk and more effective diagnosis and treatment if they have a condition. Big data allows for far more precision and tailoring than was ever before possible by linking together diverse datasets to reveal hitherto-unknown correlations and causal pathways. But it also raises ethical issues relating to (...)
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  46. Should Parents Genetically Engineer their Children?Walter Veit - 2019 - Psychology Today.
    Imagine a world where everyone is healthy, intelligent, long living and happy. Intuitively this seems wonderful, albeit unrealistic. However, recent scientific developments in genetic engineering, namely CRISPR/Cas bring the question into public discourse, how the genetic enhancement of humans should be evaluated morally.
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  47. A Neglected Ethical Issue in Citizen Science and DIY Biology.Lucie White - 2019 - American Journal of Bioethics 19 (8):46-48.
    Andrea Wiggins and John Wilbanks’ article (2019) presents us with a welcome overview of the neglected, novel ethical issues raised by the advent of citizen science in health and biomedical contexts. This contribution takes a rather different approach, focusing on a very specific (yet also overlooked) problem in this context - the ethical implications of self-administered genetic testing. This problem, however, is particularly illustrative of the “ethics gap” between traditional medical settings and new public-driven scientific practices, emphasized by Wiggins and (...)
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  48. Biomarkers for the Rich and Dangerous: Why We Ought to Extend Bioprediction and Bioprevention to White-Collar Crime.Hazem Zohny, Thomas Douglas & Julian Savulescu - 2019 - Criminal Law and Philosophy 13 (3):479-497.
    There is a burgeoning scientific and ethical literature on the use of biomarkers—such as genes or brain scan results—and biological interventions to predict and prevent crime. This literature on biopredicting and biopreventing crime focuses almost exclusively on crimes that are physical, violent, and/or sexual in nature—often called blue-collar crimes—while giving little attention to less conventional crimes such as economic and environmental offences, also known as white-collar crimes. We argue here that this skewed focus is unjustified: white-collar crime is likely far (...)
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  49. Review of Colin Farrelly, Genetic Ethics. [REVIEW]Jonathan Anomaly - 2018 - Notre Dame Philosophical Reviews:X-Y.
  50. Well-being, Opportunity, and Selecting for Disability.Andrew Schroeder - 2018 - Journal of Ethics and Social Philosophy 14 (1).
    In this paper I look at the much-discussed case of disabled parents seeking to conceive disabled children. I argue that the permissibility of selecting for disability does not depend on the precise impact the disability will have on the child’s wellbeing. I then turn to an alternative analysis, which argues that the permissibility of selecting for disability depends on the impact that disability will have on the child’s future opportunities. Nearly all bioethicists who have approached the issue in this way (...)
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