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Recent advances in prenatal genetic testing have made testing for congenital disorders more accessible, with emerging technologies promising further expansion of available testing options. In particular, non-invasive prenatal testing (“NIPT”) has allowed women to identify more fetal disorders earlier in pregnancy than was possible only a decade ago. In addition to allowing women to prepare for the birth of a child with a disability, prenatal diagnoses give women the ability to terminate a pregnancy to avoid raising a child with a disability, a choice driven by myriad factors.

The failure of many patients with chronic conditions to correctly follow medical advice that they hope or intend to follow is a major concern, especially as effective long-term therapies for chronic conditions materialize. Some US healthcare providers have responded with strategies that involve implementing contracts with their patients, including provisions that may deny future treatments after continued nonadherence. This is among the first articles to explicitly discuss the ethics of patient contracts.

Proposals to return medically actionable secondary genetic findings (SFs) in the clinical and research settings have generated controversy regarding whether to solicit individuals’ preferences about their “right not to know” genetic information. This study contributes to the debate by surveying research participants who have actively decided whether to accept or refuse SFs. Participants were drawn from a large National Institutes of Health (NIH) environmental health study. Participants who had accepted SFs (n = 148) or refused SFs (n = 83) were given more detailed information about the types of SFs researchers could return and were given an opportunity to revise their original decision. Forty-one of 83 initial refusers (49.4%) opted to receive SFs following the informational intervention. Nearly 75% of these “reversible refusers” thought they had originally accepted SFs. The 50.6% of initial refusers who continued to refuse (“persistent refusers”) demonstrated high levels of understanding of which SFs would be returned postintervention. The most prominent reason for refusing was concern about becoming worried or sad (43.8%). This study demonstrates the need for a more robust informed consent process when soliciting research participants’ preferences about receiving SFs. We also suggest that our data support implementing a default practice of returning SFs without actively soliciting preferences.

STUDY QUESTION To what extent do characteristics of germline genome editing (GGE) determine whether the general public supports permitting the clinical use of GGE? SUMMARY ANSWER The risk that GGE would cause congenital abnormalities had the largest effect on support for allowing GGE, followed by effectiveness of GGE, while costs, the type of application (disease or enhancement) and the effect on child well-being had moderate effects. WHAT IS KNOWN ALREADY Scientific progress on GGE has increased the urgency of resolving whether and when clinical application of GGE may be ethically acceptable. Various expert bodies have suggested that the treatment characteristics will be key in determining whether GGE is acceptable. For example, GGE with substantial risks (e.g. 15% chance of a major congenital abnormality) may be acceptable to prevent a severe disease but not to enhance non-medical characteristics or traits of an otherwise healthy embryo (e.g. eye colour or perhaps in the future more complex traits, such as intelligence). While experts have called for public engagement, it is unclear whether and how much the public acceptability of GGE is affected by the treatment characteristics proposed by experts. STUDY DESIGN, SIZE, DURATION The vignette-based survey was disseminated in 2018 among 1857 members of the Dutch general public. An online research panel was used to recruit a sample representing the adult Dutch general public. PARTICIPANTS/MATERIALS, SETTING, METHODS A literature review identified the key treatment characteristics of GGE: the effect on the well-being of the future child, use for disease or enhancement, risks for the future child, effectiveness (here defined as the chance of a live birth, assuming that if the GGE was not successful, the embryo would not be transferred), cost and availability of alternative treatments/procedures to prevent the genetic disease or provide enhancement (i.e. preimplantation genetic testing (PGT)), respectively. For each treatment characteristic, 2–3 levels were defined to realistically represent GGE and its current alternatives, donor gametes and ICSI with PGT. Twelve vignettes were created by fractional factorial design. A multinominal logit model assessed how much each treatment characteristic affected participants’ choices. MAIN RESULTS AND THE ROLE OF CHANCE The 1136 respondents (response rate 61%) were representative of the Dutch adult population in several demographics. Respondents were between 18 and 89 years of age. When no alternative treatment/procedure is available, the risk that GGE would cause (other) congenital abnormalities had the largest effect on whether the Dutch public supported allowing GGE (coefficient = −3.07), followed by effectiveness (coefficient = 2.03). Costs (covered by national insurance, coefficient = −1.14), the type of application (disease or enhancement; coefficient = −1.07), and the effect on child well-being (coefficient = 0.97) had similar effects on whether GGE should be allowed. If an alternative treatment/procedure (e.g. PGT) was available, participants were not categorically opposed to GGE, however, they were strongly opposed to using GGE for enhancement (coefficient = −3.37). The general acceptability of GGE was higher than participants’ willingness to personally use it (P LIMITATIONS, REASONS FOR CAUTION Some (e.g. ethnic, religious) minorities were not well represented. To limit complexity, not all characteristics of GGE could be included (e.g. out-of-pocket costs), therefore, the views gathered from the vignettes reflect only the choices presented to the respondents. The non-included characteristics could be connected to and alter the importance of the studied characteristics. This would affect how closely the reported coefficients reflect ‘real-life’ importance. WIDER IMPLICATIONS OF THE FINDINGS This study is the first to quantify the substantial impact of GGE’s effectiveness, costs (covered by national insurance), and effect on child well-being on whether the public considered GGE acceptable. In general, the participants were strikingly risk-averse, in that they weighed the risks of GGE more heavily than its benefits. Furthermore, although only a single study in one country, the results suggests that—if sufficiently safe and effective—the public may approve of using GGE (presumably combined with PGT) instead of solely PGT to prevent passing on a disease. The reported public views can serve as input for future consideration of the ethics and governance of GGE. STUDY FUNDING/COMPETING INTEREST(S) Young Academy of the Royal Dutch Academy of Sciences (UPS/RB/745), Alliance Grant of the Amsterdam Reproduction and Development Research Institute (2017–170116) and National Institutes of Health Intramural Research Programme. No competing interests. TRIAL REGISTRATION NUMBER N/A.

New fetal therapies offer important prospects for improving health. However, having to consider both the fetus and the pregnant woman makes the risk-benefit analysis of fetal therapy trials challenging. Regulatory guidance is limited, and proposed ethical frameworks are overly restrictive or permissive. We propose a new ethical framework for fetal therapy research. First, we argue that considering only biomedical benefits fails to capture all relevant interests. Thus, we endorse expanding the considered benefits to include evidence-based psychosocial effects of fetal therapies. Second, we reject the commonly proposed categorical risk and/or benefit thresholds for assessing fetal therapy research (e.g., only for life-threatening conditions). Instead, we propose that the individual risks for the pregnant woman and the fetus should be justified by the benefits for them and the study’s social value. Studies that meet this overall proportionality criterion but have mildly unfavorable risk-benefit ratios for pregnant women and/or fetuses may be acceptable.

Whether and how to disclose secondary finding (SF) information to children is ethically debated. Some argue that genetic testing of minors should be limited to preserve the child's future autonomy. Others suggest that disclosure of SFs can occur if it is in the best interests of the child. However, the ways that parents conceptualize and weigh their child's future autonomy against the interests of their child and other family members are unknown.To explore how parents understand SF disclosure in the context of their child and other family members' lives, we conducted semistructured interviews with 30 families (40 parents in total). All parents had children who were enrolled in a genetic sequencing protocol that returned results by default.We found that parents did not routinely conceptualize SFs as distinctive health information. Rather parents saw this information as part of their child's overall health. To make decisions about disclosure, parents weighed their child's ability to understand the SF information and their other family member's need to know.Because most families desired SF information, we argue that disclosure of SF be reconceptualized to reflect the lived experiences of those who may receive this information.

Respect for patient autonomy has served as the dominant ethical principle of genetic counselling, but as we move into a genomic era, it is time to actively re-examine the role that this principle plays in genetic counselling practice. In this paper, we argue that the field of genetic counselling should move away from its emphasis on patient autonomy and toward the incorporation of a more balanced set of principles that allows counsellors to offer clear guidance about how best to obtain or use genetic information. We begin with a brief history of how respect for patient autonomy gained such emphasis in the field and how it has taken on various manifestations over time, including the problematic concept of nondirectiveness. After acknowledging the field’s preliminary move away from nondirectiveness, we turn to a series of arguments about why the continued dominance of patient autonomy has become untenable given the arrival of the genomic era. To conclude, we describe how a more complete set of bioethical principles can be adapted and used by genetic counsellors to strengthen their practice without undermining patient autonomy.

In the early days of a pandemic, repurposing biospecimens from established research projects could prove to be extraordinarily useful in achieving substantial and timely public health benefits. Nonetheless, there are potential ethical and regulatory uncertainties that may impede access to those valuable biospecimens. In this article, we argue that there should be a presumption in favor of using previously collected identifiable research biospecimens without reconsent to directly address an infectious disease pandemic, assuming certain conditions are met. This argument fills a unique yet critical gap in decision‐making where the specific consent accompanying the identifiable biospecimens would not otherwise permit repurposing. Further, it suggests that even if gaining reconsent is feasible, doing so in a fast‐moving crisis is not necessary. This analysis also attempts to address the ethical concerns of public health authorities who already may have the power to use such specimens but are reluctant to do so.

Prenatal genetic testing is becoming available for an increasingly broad set of diseases, and it is only a matter of time before parents can choose to test for hundreds, if not thousands, of genetic conditions in their fetuses. Should access to certain kinds of fetal genetic information be limited, and if so, on what basis? We evaluate a range of considerations including reproductive autonomy, parental rights, disability rights, and the rights and interests of the fetus as a potential future child. We conclude that parents should be able to access information that could be useful during pregnancy, but that testing for non-medical information should be limited. Next, we argue that the government lacks a compelling state interest in regulating prenatal genetic testing and propose that regulation should occur through medical professional organizations. Finally, we present a framework for determining what testing physicians should recommend, offer neutrally, or not offer at all.

Covid-19 Vaccine Trials and Incarcerated People Amid ongoing efforts to reduce the risk of Covid-19 infection in correctional facilities, researchers are considering whether incarcerated people sho...

In 2014, companies began covering the costs of egg freezing for their employees. The adoption of this benefit was highly contentious. Some argued that it offered women more reproductive autonomy, buying time to succeed in their careers and postpone childbearing. Others suggested this benefit might place inappropriate pressure on women, unduly influencing them to freeze their eggs to prioritize their career over reproduction. Although ethical problems with this benefit have been explored, there has not been research analyzing the perspectives of women working for companies that offer employer-based egg freezing. Furthermore, existing empirical studies often focus on the experiences of egg freezers rather than the young women thinking about, but not yet using, this technology.

This Article examines the public health response to COVID-19 within federal and state prisons and local jails Prisons and jails are often a hotbed of airborne

The authors of the target article briefly discuss the issue of “sample ownership” when scientists collaborate with citizen science partners (Wiggins and Wilbanks 2019). This is an important issue, ...

The idea of a right not to know (RNTK) emerged in the late 20th century, largely in response to the early incorporation of genetic testing into clinical care. While a few commentators took a more absolute view about the strength of the RNTK, most of the scholarship was openly sceptical of the concept, or at least was willing to acknowledge that the RNTK was defeasible.1 After two decades of relative quiet, it was surprising, then, that the RNTK reappeared with a seemingly widespread consensus that it deserved to be treated as an absolute right. In response to the American College of Medical Genetics and Genomics recommendation2 to actively search for a limited set of high-value medical variants as a default (ie, without soliciting the patient’s preference to know or not know that information) many bioethics commentators came forward to endorse a strong RNTK.3 While ‘deliberate ignorance’ is a complicated moral and psychological concept,4 I was and remain sceptical of a strong RNTK in all cases, and largely support the novel arguments put forth by Ben Davies. But he makes two moves that deserve additional discussion and analysis. Specifically, I have concerns about conflating the provision of medical information with the separate decision about whether or not to act on …

OBJECTIVE Given public demand for genetic information, the potential to perform prenatal whole-genome sequencing (PWGS) non-invasively in the future, and decreasing costs of whole-genome sequencing, it is likely that OB/GYN practice will include PWGS. The goal of this project was to explore OB/GYNs' views on the ethical issues surrounding PWGS and their preparedness for counseling patients on its use. METHODS A national survey was administered to 2500 members of American Congress of Obstetricians and Gynecologists. RESULTS A total of 1114 respondents completed the survey (response rate = 45%). OB/GYNs are most concerned with ordering non-medical fetal genetic information, are worried about increasing parental anxiety, and feel it is appropriate to be directive when counseling parents about PWGS. Furthermore, most OB/GYNs have limited knowledge of genetics, rely heavily on genetic counselors and would like more guidance regarding the clinical adoption of PWGS. CONCLUSION OB/GYNs do not completely accept or reject PWGS, but a substantial number have significant ethical and practical concerns. They are most concerned with issues that will directly affect their practices and interactions with patients, such as increasing parental anxiety and costs of care. Professional guidance would be instrumental in directing the adoption of PWGS and alleviating the ethical burden posed by PWGS on individual OB/GYNs. Published 2016. This article is a U.S. Government work and is in the public domain in the USA.

The active debate about the return of incidental or secondary findings in research has primarily focused on return to research participants, or in some cases, family members. Particular attention has been paid to return of genomic findings. Yet, research may generate other types of findings that warrant consideration for return, including findings related to the pathology of donated biospecimens. In the case of deceased biospecimen donors who are also organ and/or tissue transplant donors, pathology incidental findings may be relevant not to family members, but to potential organ or tissue transplant recipients. This paper will describe the ethical implications of pathology incidental findings in the Genotype-Tissue Expression (GTEx) project, the process for developing a consensus approach as to if/when such findings should be returned, possible implications for other research projects collecting postmortem tissues and how the scenario encountered in GTEx fits into the larger return of results/incidental findings debate.

Hundreds of millions of rare biospecimens are stored in laboratories and biobanks around the world. Often, the researchers who possess these specimens do not plan to use them, while other researchers limit the scope of their work because they cannot acquire biospecimens that meet their needs. This situation raises an important and underexplored question: how should scientists allocate biospecimens that they do not intend to use? We argue that allocators should aim to maximise the social value of the research enterprise when allocating scarce biospecimens. We provide an ethical framework for assessing the social value of proposed research projects and describe how the framework could be implemented.

The field of genetic counseling has grown and diversified since the profession emerged in the early 1970s. In the same period, genomic testing has become more complex, profitable, and widespread. With these developments, the scope of ethical considerations relevant to genetic counseling has expanded. In light of this, we find it helpful to re-visit how ethical and relational variables are used to inform genetic counseling practice. Our specific focus is on whether, and to what extent, it is ethically acceptable for genetic counselors to make normative recommendations to patients. This article builds on prior literature that has critiqued nondirectiveness, a concept that has influenced and constrained the modern profession of genetic counseling since its origin. In it, we review scholarly efforts to move beyond nondirectiveness, which privileges patient autonomy and relational aspects of genetic counseling at the expense of other important values. We then argue that genetic counselors should favor a more explicit commitment to the principles of beneficence and non-maleficence, as well as a broader understanding of autonomy and the relational variables that impact genetic counseling. Finally, to translate our arguments into practice, we present a framework of six considerations that genetic counselors should take into account when deciding whether it is ethically acceptable, or even desirable, to make recommendations to patients in certain areas of their work.

OBJECTIVE: To assess pregnant women’s views and preferences on noninvasive prenatal whole genome sequencing. METHODS: A survey was offered to 805 pregnant women receiving prenatal care in practices affiliated with a large, tertiary care maternity hospital. Respondents were asked to envision undergoing prenatal whole genome sequencing and discuss their preferences and reasons for receiving different categories of genomic results, organized by actionability, severity, prevalence, and age of onset. The survey also queried respondents on their preferred role for clinicians in prenatal whole genome sequencing decision-making, and on their demographics and genetic literacy. RESULTS: From June to August 2017, a total of 553 respondents returned the survey (response rate = 68.7%). Respondents were most likely to want information regarding serious treatable childhood-onset conditions (89.7%) and least likely to want to receive information about non-medical traits from prenatal whole genome sequencing (40%). The most frequently cited reason for wanting medical prenatal whole genome sequencing results was “to prepare financially, medically, or psychologically for a child with special needs.” In total, 10.5% of respondents wanted clear recommendations from clinicians about the categories of information that are most appropriate to test for, 44.7% wanted clear recommendations plus all options presented, 26.2% wanted all options presented and joint decision-making, and 13.2% wanted all options presented and independent decision-making. CONCLUSION: Respondents generally preferred to receive all categories of genetic results pertaining to medical conditions and wanted the information in order to prepare. More than half of respondents wanted (at minimum) clear recommendations from clinicians when deciding which prenatal whole genome sequencing results to receive.

An important gap exists in textbooks (or atlases) of dysmorphology used by health-care professionals to help diagnose genetic syndromes. The lack of varied phenotypic images in available atlases limits the utility of these atlases as diagnostic tools in globally diverse populations, causing geneticists difficulty in diagnosing conditions in individuals of different ancestral backgrounds who may present with variable morphological features. Proposals to address the underinclusion of images from diverse populations in existing atlases can take advantage of the Internet and digital photography to create new resources that take into account the broad global diversity of populations affected by genetic disease. Creating atlases that are more representative of the global population will expand resources available to care for diverse patients with these conditions, many of whom have been historically underserved by the medical system. However, such projects also raise ethical questions that are grounded in the complex intersection of imagery, medicine, history, and race and ethnicity. We consider here the benefits of producing such a resource while also considering ethical and practical concerns, and we offer recommendations for the ethical creation, structure, equitable use, and maintenance of a diverse morphological atlas for clinical diagnosis.Genet Med 18 11, 1069-1074.

Researchers’ obligations to disclose genetic incidental findings (GIFs) have been widely debated, but there has been little empirical study of the engagement of institutional review boards (IRBs) with this issue. This article presents data from the first extensive (n = 796) national survey of IRB professionals’ understanding of, experience with, and beliefs surrounding GIFs. Most respondents had dealt with questions about GIFs (74%), but only a minority (47%) felt prepared to address them. Although a majority believed that there is an obligation to disclose GIFs (78%), there is still not consensus about the supporting ethical principles. Respondents generally did not endorse the idea that researchers’ additional time and effort (7%), and lack of resources (29%), were valid reasons for diminishing a putative obligation. Most (96%) supported a right not to know, but this view became less pronounced (63%) when framed in terms of specific case studies. IRBs are actively engaged with GIFs but have not yet reached consensus. Respondents were uncomfortable with arguments that could be used to limit an obligation to return GIFs. This could indicate that IRBs are providing some of the impetus for the trend toward returning GIFs, although questions remain about the relative contribution of other stakeholders. Genet Med 18 7, 705–711.

The prospect of sequencing a fetus's whole genome raises a number of fraught ethical concerns. Critics worry that new genetic techniques will enable parents to select particular traits in their chi...

As new, high-powered sequencing technologies are increasingly incorporated into genomics research, we believe that there has been a break point in how risks and benefits associated with genetic information are being characterized and understood. Genomic sequencing provides the potential benefit of a wealth of information, but also has the potential to alter how we conceptualize risks of sequencing. Until now, our conceptions of risks and benefits have been generally static, arising out of the early ethical, legal and social implications studies conducted in the context of targeted genetics. This paper investigates how the increasing availability of genetic information is changing views about risks and benefits, particularly examining our evolving understanding of psychosocial harms and our expanding conception of benefit. We argue that the lack of robust empirical evidence of psychosocial harms and the expanding view that benefits of genomic research include indirect familial benefit necessitate continued ethical, legal and social implications research.

The prevalence of research with biological specimens has led to a debate over what type of consent is needed to obtain biological specimens from minors and store them for future studies. In most cases, parental permission is needed to obtain samples from minors. In addition, almost all commentators and guidelines maintain that researchers need the consent of the donors if they want to continue to store the samples and make them available for future studies after the donors reach the age of majority. In this Ethics Rounds, we argue that this near-consensus view is mistaken on the grounds that the agreement of the parents at the time of obtaining samples provides sufficient permission to store them and use them in research even after the donors turn 18 years old.

Much new global genetic research employs whole genome sequencing, which provides researchers with large amounts of data. The quantity of data has led to the generation and discovery of more incidental or secondary findings and to vigorous theoretical discussions about the ethical obligations that follow from these incidental findings. After a decade of debate in the genetic research community, there is a growing consensus that researchers should, at the very least, offer to return incidental findings that provide high-impact, medically relevant information, when it is not unduly burdensome to the research enterprise to do so. Much as genetic research has been limited to U.S. and European settings, the incidental findings debate has primarily focused on research conducted in high-income countries. In a 2015 paper, Alberto Ortiz-Osorno, Linda Ehler, and Judith Brooks note salient differences between the circumstances of research participants in low- and high-resource settings that alter the analysis of when and why incidental findings should be offered to research participants. In this article, we expand on their analysis and present a framework for thinking about how investigators' obligations to return genomic data might change in low-resource settings, particularly in settings where participants do not have access to the medical care needed to treat, assess, or monitor incidental findings that are actionable in settings with plentiful resources.

The ability to efficiently generate massive amounts of genomic sequence data is emerging as a powerful tool in biomedical research,1 but it has also prompted a vigorous debate about the ethics of managing the breadth of clinical information produced.2 There is already a substantial literature on how to handle incidental findings with potential clinical significance, and consensus remains elusive.3 In this paper, we return to one of the earliest documented examples of an incidental finding: misattributed parentage.4 As costs decrease and analytic tools improve, a growing proportion of research studies will use genomic sequencing to draw inferences based on comparisons between the genetic data of a set of individuals thought to be related to each other. Among the cases in which genomic sequencing will be very useful are those in which a child has a rare or undiagnosed disease that might have an underlying genetic etiology. Researchers will be able to sequence the pediatric proband and both parents to compare their genomes in hopes of finding novel variants that point toward a diagnosis and perhaps to treatment.5 As the use of this analytic method progresses, however, researchers are sure to discover that, in a growing number of cases, the assumed biological relationships between the individuals do not actually exist. Consequently, they will have to grapple with decisions about whether to return incidental findings of misattributed parentage on a much larger scale than ever before. The significance of this issue was acknowledged by the Presidential Commission for the Study of Bioethical Issues in a 2013 report on incidental findings, in which they used misattributed paternity as a paradigmatic example of a “relatively common” anticipatable incidental finding.6 For example, even among men who are highly confident about their paternity, there is a 1.7 percent rate of misattribution.7 Misattributed parentage is defined here as the misattribution of genetic parentage: that is, that the putative parent of an individual is not that individual's genetic parent. Although the literature tends to focus on misattributed paternity, with the presumption that it results from infidelity, there are a variety of cases in which researchers may discover that an individual's paternity or maternity is misattributed. An individual may not know that she is adopted, for example, or the wrong egg and sperm may have been used during in vitro fertilization (IVF), or a child may have been switched at birth. While we make no normative claims about whether or not individuals ought to value genetic relationships, the correct attribution of genetic parentage may be important to parents and children for a variety of reasons. For some, the genetic parent-child relationship may carry emotional weight. Some individuals may want accurate information about their biological parentage in order to gain an accurate familial medical history for their personal medical treatment or for reproductive decision-making. In many countries, genetic parentage grounds certain legal obligations of parents toward their children. Whether it ought to or not, the disclosure of information about misattributed genetic parentage has the potential to affect familial relationships on many levels. We argue that nondisclosure should be the default position for researchers. We begin by assessing the limited guidance that can be found in the literature on incidental research findings and on disclosure of misattributed parentage in the clinical setting. We then sketch the normative argument that underlies our view that the default should be nondisclosure. In order to assess whether to disclose in a particular case, it is necessary to weigh the expected harms and benefits of disclosure, and we provide a taxonomy of the possible harms and benefits and show how our normative argument applies to them. We close by considering three objections: that nondisclosure may cause false beliefs in participants, that researchers may have relationships of trust with their participants that entail a duty to disclose, and that participant preferences should be solicited and followed. We close by suggesting ways in which the consent process could minimize possible harms related to nondisclosure.

The recent Common Rule revision process took almost a decade and the resulting changes are fairly modest, particularly when compared to the ambitious ideas proposed in the advance notice of proposed rulemaking (ANPRM) and notice of proposed rulemaking (NPRM). Furthermore, the revision process did not even attempt to tackle any of the Common Rule subparts pertaining to vulnerable populations (i.e., pregnant women and fetuses, prisoners, children) where commentators think the rules unduly restrict important research. We believe that this was a missed opportunity to make desirable changes, and that given the usual process the next opportunity to revisit the Common Rule is unacceptably remote. In this article, we argue that the Common Rule should be regularly reassessed, with a mechanism for making substantive (and expeditious) changes. Drawing on lessons learned from the recent revision process, we make recommendations about ways to structure future attempts to maximize the ability to make timely and necessary changes.

As addressed by Sugarman (2017), the additional informed consent requirements incorporated in the revised Common Rule present some of the most intriguing aspects of the updated regulatory scheme. T...

While the development of next-generation sequencing technology has had a paradigm-changing impact on biomedical research, there is likely to be a gap between discovery of therapeutic benefits in research and actual adoption of the new technology into clinical practice. This gap can create pressure on the research enterprise to provide individualized care more typical of the clinic setting because it is uniquely accessible in research. This blurring of the line between research and clinical care is understandable, and perhaps even inevitable. But even if the gap is only transitory, such a blurring can have lasting implications, both by expanding obligations imposed on researchers, but also by challenging long-held ethical views. We explore this idea, focusing on how the dissolving distinction between research and clinical care has influenced the vigorous debate around how researchers should manage genetic findings (sometimes separated into primary and incidental or secondary findings) resulting from research.

We have learned a remarkable amount in recent decades about genomics and its potential contributions to human health and medical practice. However, genomic sequencing technology, which is starting to become incorporated into clinical care, also raises ethical challenges. In particular, there has been significant debate about the appropriate management of genomic incidental findings (GIFs), which we define as pathogenic or likely pathogenic test results that are not apparently relevant to the diagnostic indications for which the tests were ordered. Although there is an emerging consensus that clinicians will have at least some obligation to disclose GIFs to patients, the scope of that obligation is unclear. This commentary identifies nuanced issues that clinicians will likely face in the foreseeable future regarding their emerging obligations to disclose clinically actionable GIFs. Will clinicians be expected to look actively for GIFs? Should GIFs for adult-onset disorders be disclosed to children? What obligations will clinicians have to disclose GIFs to family members of deceased patients? What role should informed consent play? There is value to exploring the range of views on these questions at this time, before genomic sequencing has fully matured as a technology, so that clinicians can anticipate how they will respond to the discovery of GIFs once sequencing becomes a more routine part of clinical care. Genomics is ultimately going to play an important role in the practice of pulmonary medicine, and it is important for pulmonologists and other subspecialists to be well informed about what to expect.

Information from online genealogy services might be used in manners not anticipated by consumers, including as forensic evidence in crime solving. The authors discuss the informed consent, privacy,...

Bruno and Arora (2018) explore the ethics of uterine transplantation, which is laudable given the range of complex issues raised by this emerging technology. Their most specific propositions are fo...

Next-generation sequencing technologies will likely be used with increasing frequency in pediatric research. One consequence will be the increased identification of individual genomic research findings that are incidental to the aims of the research. Although researchers and ethicists have raised theoretical concerns about incidental findings in the context of genetic research, next-generation sequencing will make this once largely hypothetical concern an increasing reality. Most commentators have begun to accept the notion that there is some duty to disclose individual genetic research results to research subjects; however, the scope of that duty remains unclear. These issues are especially complicated in the pediatric setting, where subjects cannot currently but typically will eventually be able to make their own medical decisions at the age of adulthood. This article discusses the management of incidental findings in the context of pediatric genomic research. We provide an overview of the current literature and propose a framework to manage incidental findings in this unique context, based on what we believe is a limited responsibility to disclose. We hope this will be a useful source of guidance for investigators, institutional review boards, and bioethicists that anticipates the complicated ethical issues raised by advances in genomic technology.

The rapid growth of next-generation genetic sequencing has prompted debate about the responsibilities of researchers toward genetic incidental findings. Assuming there is a duty to disclose significant incidental findings, might there be an obligation for researchers to actively look for these findings? We present an ethical framework for analyzing whether there is a positive duty to look for genetic incidental findings. Using the ancillary care framework as a guide, we identify three main criteria that must be present to give rise to an obligation to look: high benefit to participants, lack of alternative access for participants, and reasonable burden on researchers. Our analysis indicates that there is no obligation to look for incidental findings today, but during the ongoing translation of genomic analysis from research to clinical care, this obligation may arise.

Given public demand for genetic information, the potential to perform prenatal whole-genome sequencing (PWGS) non-invasively in the future, and decreasing costs of whole-genome sequencing, it is likely that OB/GYN practice will include PWGS. The goal of this project was to explore OB/GYNs' views on the ethical issues surrounding PWGS and their preparedness for counseling patients on its use.A national survey was administered to 2500 members of American Congress of Obstetricians and Gynecologists.A total of 1114 respondents completed the survey (response rate = 45%). OB/GYNs are most concerned with ordering non-medical fetal genetic information, are worried about increasing parental anxiety, and feel it is appropriate to be directive when counseling parents about PWGS. Furthermore, most OB/GYNs have limited knowledge of genetics, rely heavily on genetic counselors and would like more guidance regarding the clinical adoption of PWGS.OB/GYNs do not completely accept or reject PWGS, but a substantial number have significant ethical and practical concerns. They are most concerned with issues that will directly affect their practices and interactions with patients, such as increasing parental anxiety and costs of care. Professional guidance would be instrumental in directing the adoption of PWGS and alleviating the ethical burden posed by PWGS on individual OB/GYNs. Published 2016. This article is a U.S. Government work and is in the public domain in the USA.

In September 2014, a healthy male child was born in Sweden following a successful uterine transplantation (UTx). The event brought hope to many women without functional uteruses around the world. Having a child with a transplanted uterus is now possible, and as knowledge of the procedure proliferates and interest in UTx grows, it is important to begin thinking about how a scarce supply of uteruses will be allocated. This article represents a first discussion of the range of factors that must be considered in answering the allocation question. The primary issues addressed are (1) the motivation to seek treatment, (2) allocation by age, (3) child-rearing capacity, and (4) the amount of infertility treatment required. A set of eligibility and ranking criteria are presented. These criteria are not exhaustive but are intended to spark discussion about how uteruses can be allocated in a just manner.

The New York Times recently reported on an ongoing class action lawsuit filed by a group of egg donors against the American Society for Reproductive Medicine (ASRM) challenging guidelines that recommend limiting reimbursement for egg donation to up to $10,000. The lawsuit, Kamakahi v. American Society for Reproductive Medicine, was first filed in 2011 and will likely go to trial next year. The Times quickly followed up with an editorial asserting that the lack of a free market for egg donation unjustly short-changes egg donors, who could earn much more if the market were unfettered by the ASRM guidelines. While the pros and cons of reimbursing egg donors has been much debated in the ethics literature and in European policy circles, insufficient attention has been paid to already-high costs of infertility treatment in the United States. Due to a limited availability of insurance coverage for infertility treatment in the US, the cost of egg donation is essentially a zero-sum game; if payment to egg donors increases, costs to egg recipients will increase as well. This piece argues that while the existing reimbursement cap for egg donation may be inadequately grounded, an adjusted cap for egg donor payments could be justified in order to maintain access to donor eggs for patients in need. The ASRM guideline in question, an ethics document entitled “Financial Compensation of Oocyte Donors,” states that “Total payments to donors in excess of $5,000 require justification and sums above $10,000 are not appropriate.”1 Though this guideline is not universally followed, it sets professional standards that influence the activities of most clinics and physicians in the field of infertility. As justification for the cap, the document cites many of the common arguments for limiting payment to donors. Firstly, it is generally considered unacceptable to sell human body parts, including eggs, out of consideration for human dignity and the value of human life. The guideline therefore stresses that egg donors are selling their time, effort and risk, not the eggs that they produce. While people's discomfort with the commodification of eggs is understandable, the moral distinction between compensating donors for their eggs versus compensating them for the process required to produce the eggs is questionable. It seems naive to conceive of egg donation as solely a compensated act of altruism, since evidence suggests that without compensation, there would be a significant shortage of eggs.2 Furthermore, it is unclear why higher compensation would be more objectionable on dignity grounds than lower compensation; it is compensation per se that raises concerns about inappropriately valuing human life. The ASRM guideline further notes that high levels of reimbursement could unduly induce women in need to subject themselves to the risks and discomfort of egg donation. Compensation, but at a relatively low level, the ASRM argues, would keep the danger of unduly inducing low-income women in check. A similar view can be found in the ethics literature on egg donation, in which low levels of compensation, or “incomplete commodification,” is considered by some to be “a reasonable compromise.”3 But the concept of undue inducement is often misapplied,4 including in relation to egg donation. Undue inducement occurs through an offer of excessive, unwanted, or inappropriate reward, thereby interfering with the ability to rationally weigh the risks and benefits of a decision. While there is likely some amount of money which, if offered, would cause a woman to downplay the risks, it seems improbable that payment greater than $10,000 would substantially impair a woman's ability to rationally comprehend and consider the risks associated with egg donation. The payment certainly may induce some women to donate, but there is no evidence to suggest that it unduly induces women to do so, inhibiting voluntary and autonomous decision-making. Finally, the ASRM document raises the concern that women in need of money may conceal medical information that would render them ineligible to donate eggs in order to receive substantial compensation. While this worry is valid, its relationship to the $5,000 and $10,000 cutoffs is also unclear. Five or ten thousand dollars is already a large sum of money that could stimulate someone in need of money to withhold disqualifying information. A more ethically justifiable reason to cap payment is to facilitate access to egg donation for infertile couples of modest means. Fertility treatment in the United States is largely uncovered by health insurance, meaning that couples must pay out of pocket more than $12,000, on average, for a single fresh cycle of IVF (including medications). Insurance coverage for fertility treatment is mandated in 15 states, but coverage in most of these states excludes IVF. Add the cost of egg donation and many couples find the price of having a child through assisted reproduction prohibitive. If a free market system for compensating egg donors were implemented, the additional cost would be passed on to infertile couples, rendering the treatment unaffordable to even more couples in need. Understandably, the plaintiffs in the Kamakahi case are asking, “Why should egg donors pay the price for more affordable assisted reproduction?” While it is true that the ASRM's suggested cap creates winners (couples who can now afford donor egg IVF) and losers (egg donors who could have earned more on a free market), the same is true of any regulation that aims to increase access to a product or service. Such is the nature of regulated markets; they create inefficiencies that are often absorbed unequally between producers and consumers, and they do so to achieve an external goal that promotes the public good – increasing access to donor egg IVF, in this case. While many egg donors make less under the current guidelines than they would otherwise, that is not inherently unjust. One could argue that on a societal level, it is just to equalize access to donor egg IVF by limiting egg donor compensation to some extent. Precisely how much egg donor compensation can be limited without unjustly shortchanging donors, however, is difficult to determine. The ASRM guideline cites a 1993 article that set compensation for egg donors by using a formula that multiplied payment for sperm donation by the amount of time women spent donating eggs as compared to men donating sperm. The ASRM document acknowledges that the 1993 estimate does not take sufficient account of the additional risk and discomfort to which egg donors are exposed, but the guideline does not provide a clear alternative calculation to support the $10,000 cap. If our justification for capping payment for egg donation is to increase access to donor egg IVF, data should be gathered on the financial resources available to the average patient in need of egg donation. With a more complete picture, the ASRM could set an appropriate compensation limit by balancing the needs and interests of egg donors and egg recipients. Ideally, however, egg donation would not be zero sum game. If there were greater insurance coverage for egg donation, or a sliding scale for payment by egg recipients, egg donors could receive greater compensation without greatly increasing the cost of donor egg IVF. If insurance companies, rather than individual recipients, absorbed the additional expense, egg donors could be reimbursed at or near market rates without restricting access to patients. The first step towards moving to a fairer model of egg donor compensation is abandoning the notion that egg donation is an act of pure altruism, for which egg donors should only receive minor compensation. While many donors are motivated by the desire to help others have children,5 compensation should not be capped out of an unwillingness to acknowledge that some egg donors are primarily driven by the financial reward. Instead, if payment is to remain capped, it should do so out of a clear and transparent effort to promote access for patients in need of donor egg IVF.

The potential for big data to advance our understanding of human disease has been particularly heralded in the field of genomics. Recent technological advances have accelerated the massive data generation capabilities of genomic research, which has allowed researchers to undertake larger scale genomic research, with significantly more participants, further spurring the generation of massive amounts of data. The advance of technology has also triggered a significant reduction in cost, allowing large-scale genomic research to be increasingly feasible, even for smaller research sites. The rise of genetic research has triggered the creation of many large-scale genomic repositories (LSGRs) some of which contain the genomic information of millions of research participants. While LSGRs have genuine potential, they also have raised a number of ethical concerns. Most prominently, commentators have raised questions about the privacy implications of LSGRs, given that all genomic data is theoretically re-identifiable. Privacy can be further threatened by the possibility of aggregation of data sets, which can give rise to unexpected, and potentially sensitive, information. Beyond privacy concerns, LSGRs also raise questions about participant autonomy, public trust in research, and justice. In this chapter, we explore these ethical challenges, with the goal of elucidating which ones require closer scrutiny and perhaps policy action. Our analysis suggests that caution is warranted before any major policies are implemented. Much attention has been directed at privacy concerns raised by LSGRs, but perhaps for the wrong reasons, and perhaps at the expense of other relevant concerns. We do not think that there is yet sufficient evidence to motivate enactment of major policy changes in order to safeguard welfare interests, although there might be some stronger reasons to worry about subjects’ non-welfare interests. We also believe that LSGRs raise genuine concerns about autonomy and justice. Big data research, and LSGRs in particular, have the potential to radically advance our understanding of human disease. While these new research resources raise important ethical concerns, any policies implemented concerning LSGRs should be carefully tailored to ensure that research is not unduly burdened.