Genetic Testing

In Rosamond Rhodes, Leslie Francis & Anita Silvers (eds.) Blackwell Guide to Medical Ethics. (Ch. 23, pp. 407-424, 2006).

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 (...) the practice of genetic counseling as guided by concerns of justice and equity. We proceed in two steps. First, we explain how informed consent is flawed as a practical concept. Second, we show how the inadequacy of informed consent illuminates the animating core of disability critiques of genetic counseling: the issue of ableism. We argue that the problem of ableism cannot be solved with informed consent because it is not merely a problem of information, but also of epistemic schemas. We suggest that what we call critically informed consent is better suited to move genetic counseling from being aware of the problem of ableism to becoming actively anti-ableist. (shrink)

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...

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 (...) recently. The purpose of this study is to re-establish attitudes of Deaf individuals towards genetic testing of genes known to cause hearing loss. A computer-based questionnaire was distributed to members of the Deaf community. Responses of participants were recorded and analyzed. The primary investigator then attended Deaf community events and the 2015 Alabama Association of the Deaf Conference, and recruited individuals interested in participating in the study. The surveys were distributed to these individuals and their anonymous responses were analyzed. Our results show there are more positive attitudes within the Deaf community towards genetic counseling, genetic testing, and prenatal testing of genes known to cause hearing loss than were previously documented, although negative attitudes are still present. Additionally, our study shows there is a desire among members of the Deaf community to learn more about and potentially receive these services, despite the fact they are rarely offered by healthcare providers. (shrink)

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 (...) return, or were developed outside Europe. To address this gap, we analysed existing normative documents identified online using inductive content analysis. We used this analysis to develop a checklist of steps to assist European researchers considering whether to return IRR to participants. We then sought feedback on the checklist from an interdisciplinary panel of European experts (clinicians, clinical researchers, population-based researchers, biobank managers, ethicists, lawyers and policy makers) to refine the checklist. The checklist outlines seven major components researchers should consider when determining whether, and how, to return results to adult research participants: 1) Decide which results to return; 2) Develop a plan for return of results; 3) Obtain participant informed consent; 4) Collect and analyse data; 5) Confirm results; 6) Disclose research results; 7) Follow-up and monitor. Our checklist provides a clear outline of the steps European researchers can follow to develop ethical and sustainable result return pathways within their own research projects. Further legal analysis is required to ensure this checklist complies with relevant domestic laws. (shrink)

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...

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...

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.

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 (...) la position de Davidson peut être considérée comme une analyse non-réductionniste rapportant l'intention au jugement, selon les directions suggérées par Wright. J'expliquerai ensuite comment cette analyse peut aider à éclaircir diverses difficultés qui se présentent dans la conception que Davidson se fait ultérieurement de la signification et du contenu mental. (shrink)

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 (...) la position de Davidson peut être considérée comme une analyse non-réductionniste rapportant l'intention au jugement, selon les directions suggérées par Wright. J'expliquerai ensuite comment cette analyse peut aider à éclaircir diverses difficultés qui se présentent dans la conception que Davidson se fait ultérieurement de la signification et du contenu mental. (shrink)

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...

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...

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 (...) options individuals possess, which impacts the extent to which would-be consumers can exercise their autonomy. (shrink)

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 (...) the context of their application for the biotic analysis of preimplantation genetic testing. Results: Despite the fact that PGT can have positive implications for the choice of the mode of delivery later on and for the earliest possible initiation of intrauterine treatment, this practice meets with certain ethical objections in Orthodox Christian discourse. Identified genetic abnormalities of embryos in PGT encourage women to refuse to transfer the "diseased" embryo, leading ultimately to its death. The absence of intrauterine interaction between a mother and an embryo makes such a choice easily feasible. Given that Orthodox Christianity affirms the beginning of human life from the moment of conception, refusing to become pregnant with a "sick embryo" would be tantamount to its murder. In addition, among the ethical problems of PGT is the possibility of the use thereof for the embryo selection according to sex or other chosen characteristics, which also belongs to immoral actions in Orthodox Christianity. Conclusion: Thus, the possibility for Orthodox couples to participate in assisted reproductive technology must exclude the use of pre-implantation genetic testing, which is ethically unacceptable within Orthodox Christianity. The couple starting IVF should be ready to give birth and bring up such a child, who will be the result of the fertilization in vitro. (shrink)

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, (...) from the perspective of the medical moral tradition of the Roman Catholic Church. This perspective can contribute to a broad and rich description of human nature and experience, including many types of knowledge and experience, because genetic interventions can and will affect human beings on all levels of their existence. (shrink)

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 (...) in which these models could be improved to support broader goals of maternal and child health. (shrink)

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 (...) generally discouraged, continues to plague clinicians dealing with the nuanced narrative at the bedside. In this chapter we unpack some of the arguments for genetic testing and screeningGenetic testing and screening in children. We use the best interest standardBest interest standard to explore these arguments and acknowledge when it falls short of helping to answer the question “what is ethically permissible?”. We explore the risks and potential harmsHarm done by performing or not performing a genetic test in a child, including psychological effects such as guilt. We highlight the importance of the child’s voice with such concepts as assentAssent, informed consentInformed consent, capacityCapacity and disclosureDisclosure. We explore prenatalPrenatal and newbornNewborn screening, and we address the increasing complexity of the patient as consumer of knowledge and manager of health choices. Finally, we aim to give the clinician a practical guide for determining what is ethically permissible and how to navigate decisions regarding genetic testing and screeningGenetic testing and screening of children. We include these convictions in the context of the North American perspective and offer areas of international discrepancy. (shrink)

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 (...) issues known to be associated with genomic research in general, such as privacy risks and informed consent/assent, seem especially pressing for NDD participants because of their potentially decreased cognitive abilities, increased vulnerability, and stigma associated with mental health problems. Additionally, there are informational risks: learning genetic information about NDD may have psychological and social impact, not only for the research participant but also for family members. However, there are potential benefits associated with research participation, too: by enrolling in research, the participants may access genetic testing and thus increase their chances of receiving a (genetic) diagnosis for their neurodevelopmental symptoms, prognostic or predictive information about disease progression or the risk of concurrent future disorders. Based on the results of our review, we developed an ethics checklist for genomic research involving children affected by NDDs. Conclusions In setting up and designing genomic research efforts in NDD, researchers should partner with communities of persons with NDDs. Particular attention should be paid to preventing disproportional burdens of research participation of children with NDDs and their siblings, parents and other family members. Researchers should carefully tailor the information and informed consent procedures to avoid therapeutic and diagnostic misconception in NDD research. To better anticipate and address ethical issues in specific NDD studies, we suggest researchers to use the ethics checklist for genomic research involving children affected by NDDs presented in this paper. (shrink)

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 (...) in all three countries is a connection of prenatal medicine with the politically and socially contentious issue of pregnancy termination. Respondents in Poland and Russia concentrated on the topic of inadequate resources. Quality of information for expectant mothers is an important point in all three countries. Only in Germany was the issue of language barriers in communication raised. With regard to non-invasive prenatal testing (NIPT) respondents in Germany focused on the ethical issues of routinization of testing; in Poland and Russia they concentrated on fair access to NIPT. Challenges in all three countries arise from structural factors such as imprecise and prohibitive regulations, lack of resources or organization of healthcare services. These should be addressed on a political and medico-ethical level. (shrink)

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 (...) other. (shrink)

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 (...) argue that respect for reproductive autonomy does not justify adopting a model on which an offer to disclose VUS is a routine part of genetic counselling. Instead, we contend that a commitment both to solidarity between healthcare providers and pregnant women and to the acceptance of a novel principle of caution under normative uncertainty means that we should instead adopt a model of VUS disclosure that imposes a strong presumption against offering to disclose VUS. The upshot of this is that it should be standard practice to only offer to disclose VUS when this is requested by the woman undergoing CMA. We defend our position against claims that arise from an alleged right to such information and that a presumption against an offer will lead to inequity. (shrink)

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 (...) undergone testing. Recordings were transcribed and analyzed using thematic analysis. Findings were critically interpreted with reference to bioethics scholarship on autonomy. Results: Fifty-six members of the public participated in seven focus groups, and 40 individuals were interviewed separately. Both groups valued the choice of PGT, and believed that it could motivate relevant actions. Focus group themes centered on the perceived value of choices, knowledge enabling action and knowledge about the self. Interview themes suggest that participants reflexively engage with their PGT information to make meaning, and that some appreciate its shortcomings. Critical interpretation of findings shows that while consumers of PGT are able to exercise a degree of autonomy in choosing, they may not be able to achieve a substantive conceptualization of autonomy, one that promotes alignment with higher-order desires. Conclusions: PGT consumers can critically reason about testing. However, they may uncritically accept test results, may not appreciate drawbacks of increased choice, or may overestimate the potential for information to motivate behavioral change. While consumers appear to be capable of substantive autonomy, they do so without ongoing support from companies. PGT companies promote a problematic (“default”) account of autonomy, reliant on empowerment rhetoric. This leaves consumers vulnerable to making decisions inconsistent with their higher-order desires. As PGT expands, claims about its power and value need to be carefully drawn. (shrink)

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 (...) respective phenomena. This book shows that uncertainty is an inherent feature of science that does not devalue it. In contrast, uncertainty advances science because it motivates further research. This is the first book on this topic that draws on philosophy of science to explain what uncertainty in science is and how it makes science advance. It contrasts evolution, climate change, and vaccination, where the uncertainties are exaggerated, and genetic testing and forensic science, where the uncertainties are usually overlooked. The goal is to discuss the scientific, psychological, and philosophical aspects of uncertainty in order to explain what it really is, what kinds of problems it actually poses, and why in the end it makes science advance. Contrary to public representations of scientific findings and conclusions that produce an intuitive but distorted view of science as certain, people need to understand and learn to live with uncertainty in science. This book is intended for anyone who wants to get a clear view of the nature of science. (shrink)

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 (...) the balancing of interests, viability of anonymization, familial and group implications, as well as genetic discrimination. This article analyses these issues in light of the values of public benefit, justice, harm minimization, transparency, engagement and reflexivity and applies the deliberative balancing approach found in theEthical Framework for Big Data in Health and Research to a case study on clinical genomic data sharing. Please refer to that article for an explanation of how this framework is to be used, including a full explanation of the key values involved and the balancing approach used in the case study at the end. Our discussion is meant to be of use to those involved in the practice as well as governance and oversight of precision medicine to address ethical concerns that arise in a coherent and systematic manner. (shrink)

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.

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 (...) Wilbanks in their more wide-ranging treatment. (shrink)

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 (...) costlier than blue-collar crime in money, health, and lives lost. Moreover, attempts to biopredict and bioprevent blue-collar crime may entail adopting potentially unfair measures that target individuals who are already socio-economically disadvantaged, thus compounding pre-existing unfairness. We argue, therefore, that we ought to extend the study of bioprediction and bioprevention to white-collar crime as a means of more efficiently and fairly responding to crime. We suggest that identifying biomarkers for certain psychopathic traits, which appear to be over-represented among senior positions in corporate and perhaps political organisations, is one avenue through which this research can be broadened to include white-collar crime. (shrink)

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 (...) have argued that disabilities like deafness unacceptably constrain a child’s opportunities. I argue, however, that this conclusion is premature for several reasons. Most importantly, we don’t have a good way of comparing opportunity sets. Thus, we can’t conclude that deaf children will grow up to have a constrained set of opportunities relative to hearing children. I conclude by suggesting that bioethicists and philosophers of disability need to spend more time thinking carefully about the relationship between disability and opportunity. (shrink)