Sharp, Richard R.

Background: Face transplantation can offer functional and aesthetic restoration to patients who have exhausted their reconstructive options, improving quality of life and psychosocial integration. Ethical issues in face transplantation abound, including questions of patient selection and evaluation before transplantation. To date, there has been no study of ethicists’ opinions regarding face transplantation. Methods: An online survey of attendees of the 2015 International Conference on Clinical Ethics Consultation (n = 401) assessed ethicists’ opinions about face transplantation. Questions examined the risk-to-benefit ratio of immunosuppression; permissibility of face transplantation in subpopulations (including children and blind patients); donor-recipient age, sex, and ethnicity mismatches; and ethical oversight. Results: Most ethicists (84 percent) agreed that it is permissible to perform a face transplantation on an adult in the absence of clear medical contraindications. Most respondents also agreed that it is permissible to perform a face transplantation on a child (62 percent) or a blind patient (61 percent), yet demonstrated less consensus regarding the permissibility of performing a face transplantation on patients with an increased risk of immune rejection. Respondents were generally supportive of age, sex, and ethnicity mismatches, with 43 percent indicating that it is permissible to have a sex mismatch. The majority answered that face transplantation should be covered by federal insurance (74 percent). Conclusions: This study provides insight into clinical ethicists’ views regarding face transplantation. Most ethicists support the ethical permissibility of face transplantation, and did not have concerns about age, sex, and ethnicity mismatches. These findings highlight emerging areas of consensus regarding the ethical permissibility of face transplantation.

ABSTRACTWe describe how our institution responded when an interpreter who participated in the consent process involving an individual with limited English proficiency refused to cosign consent documents attesting that the individual enrolling in the study understood the consent information and that her consent to enroll was voluntary. In developing our approach, our institution took into account ethical tensions between the Belmont principles of respect for persons, beneficence, and justice that apply to the protection of research participants and the professional principles of beneficence, fidelity, and respect for the importance of culture that are outlined in ethical guidelines for medical interpreters.

Introduction: Because apolipoprotein L1 ( APOL1) risk variants may contribute to live donors’ kidney failure postdonation, professional guidelines suggest informing potential donors with African ancestry about the availability of APOL1 genotyping. This study assessed African American (AA) donors’ perceptions of APOL1 genetic testing and how APOL1 may affect ethnic identity. Methods/Approach: Four focus groups were conducted with AA donors about their decision-making for and perceptions of APOL1 genetic testing and donation to inform a new culturally targeted educational brochure on APOL1 genetic testing. Qualitative data were analyzed by thematic analysis. Findings: Seventeen donors participated (47% participation rate). Four major themes emerged. (1) In hypothetical scenarios, most participants would have undergone APOL1 testing during donor evaluation to make a more informed decision, but many would have still donated. (2) Participants desired information about how having 2 APOL1 risk variants affects the donor’s and the recipient’s health. (3) Participants referred to diversity of genetic ancestry and cultural constructions of racial/ethnic identity to question the population at risk for APOL1 risk variants and recommended that all potential donors undergo genetic testing and receive education about APOL1. (4) Participants worried that out-of-pocket costs would deter APOL1 testing and that APOL1 could become a preexisting condition and discriminate against AAs. Discussion: Our findings suggest that AA donors desire APOL1 testing to foster informed consent. Transplant clinicians should be aware of these responses to APOL1 testing and be sensitive to historical issues of distrust and discrimination.

The application of gene editing technologies to prevent or mitigate genetic disease in humans is considered one of its most promising applications. However, as the technology advances, it is imperative to understand the views of the broader public on how it should be used. We conducted focus groups to understand public views on the ethical permissibility and governance of gene editing technologies in humans. A total of 50 urban and semirural residents in the upper Midwest took part in six focus groups. Participants expressed multiple concerns about nonmedical uses of gene editing and its potential for unknown harms to human health, and were divided as to whether the individual patient or “medical experts” should be charged with overseeing the scope of its application. As potential stakeholders, the perspectives from the general public are critical to assess as genome editing technologies advance toward the clinic.

Background: DNA biobanks frequently obtain broad permissions from sample donors, who agree to allow their biospecimens to be used for a variety of future purposes. A limitation of this approach is that it may not be possible to discuss or anticipate all potential uses of biospecimens at the time patient consent is obtained. We surveyed biobank participants to clarify their views regarding the need to be informed about research involving whole genome sequencing (WGS). Methods: We invited 1200 participants in the Mayo Clinic Biobank to complete a survey inquiring about their support for WGS; their interest in being recontacted before WGS of their biospecimens; whether they would consent to WGS if asked; and the acceptability of proceeding with WGS if sample donors could not be reached. Results: Six hundred eighty-seven biobank participants returned completed surveys (57% response). More than 96% of biobank participants were supportive of WGS and would give permission for WGS of their sample, if asked. Nonetheless, 61% of biobank participants felt they should be recontacted before WGS was done. Participants were divided regarding the permissibility of conducting WGS if efforts to recontact sample donors were unsuccessful. Discussion: Our findings highlight a potential discrepancy between the broad permissions granted by biobank participants at the time they donated biospecimens and their views about the application of WGS to their samples. Biobank participants appear to value the ability to confirm their commitment to genetic research when the studies in question involve WGS, a technological capacity they may not have anticipated at the time they donated their biospecimens. Efforts to reevaluate biobank participants' views about the acceptability of new technologies may help to ensure alignment of participants' current beliefs and research applications that would have been difficult to anticipate at the time biospecimens were collected.

Efforts to characterize stakeholder attitudes about the implementation of genomic medicine would benefit from a validated instrument for measuring public views of the potential benefits and harms of genomic technologies, which would facilitate comparison across populations and clinical settings. We sought to develop a scale to evaluate attitudes about the future of genomic medicine. We developed a 21‐item scale that examined the likelihood of various outcomes of genomic medicine. The scale was administered to participants in a genomic sequencing study. Exploratory factor analysis was conducted and bivariate correlations were calculated. The genomic orientation (GO) scale was completed by 2895 participants. A two‐factor structure was identified, corresponding to an optimism subscale (16 items, α = 0.89) and a pessimism subscale (5 items, α = 0.63). Genomic optimism was positively associated with a perceived value of genetic test results, higher health literacy, and decreased decisional conflict about participation in a genomic research study. Genomic pessimism was associated with concerns about genetic testing, lower health literacy, and increased decisional conflict about the decision to participate in the study. The GO scale is a promising tool for measuring both positive and negative views regarding the future of genomic medicine and deserves further validation.

Purpose We assessed the decision-making of individuals pursuing genomic sequencing without a requirement for pretest genetic counselling. We sought to describe the extent to which individuals who decline genetic counselling reported decisional conflict or struggled to make a decision to pursue genomic testing. Methods We administered a 100-item survey to 3037 individuals who consented to the Return of Actionable Variants Empirical study, a genomic medicine implementation study supported by the National Institutes of Health (USA) eMERGE consortium. The primary outcomes of interest were self-reported decisional conflict about the decision to participate in the study and time required to reach a decision. Results We received 2895 completed surveys (response rate=95.3%), and of these respondents 97.8% completed the decisional conflict scale in its entirety. A majority of individuals (63%) had minimal or no decisional conflict about the pursuit of genomic sequencing and were able to reach a decision quickly (78%). Multivariable logistic regression analyses identified several characteristics associated with decisional conflict, including lower education, lower health literacy, lower self-efficacy in coping, lack of prior experience with genetic testing, not discussing study participation with a family member or friend, and being male. Conclusion As genomic sequencing is used more widely, genetic counselling resources may not be sufficient to meet demand. Our results challenge the notion that all individuals need genetic counselling in order to make an informed decision about genomic sequencing.