Citations

Purpose The Mayo Clinic Biobank was established to provide a large group of patients from which comparison groups (ie, controls) could be selected for case–control studies, to create a prospective cohort with sufficient power for common outcomes and to support electronic health record (EHR) studies. Participants A total of 56 862 participants enrolled (21% response rate) into the Mayo Clinic Biobank from Rochester, Minnesota (77%, n=43 836), Jacksonville, Florida (18%, n=10 368) and La Crosse, Wisconsin (5%, n=2658). Participants were all Mayo Clinic patients, 18 years of age or older and US residents. Findings to date Overall, 43% of participants were 65 years of age or older and female participants were more frequent (59%) than males at all sites. Most participants resided in the Upper Midwest regions of the USA (Minnesota, Iowa, Illinois or Wisconsin), Florida or Georgia. Self-reported race among Biobank participants was 90% white. Here we provide examples of the types of studies that have successfully utilised the resource, including (1) investigations of the population itself, (2) provision of controls for case–control studies, (3) genotype-driven research, (4) EHR-based research and (5) prospective recruitment to other studies. Over 270 projects have been approved to date to access Biobank data and/or samples; over 200 000 sample aliquots have been approved for distribution. Future plans The data and samples in the Mayo Clinic Biobank can be used for various types of epidemiological and clinical studies, especially in the setting of case–control studies for which the Biobank samples serve as control samples. We are planning cohort studies with additional follow-up and acquisition of genetic information on a large scale.

Abstract The metabolome is a system of small biomolecules (metabolites) and a direct result of human bioculture. Consequently, metabolomics is well poised to impact anthropological and biomedical research for the foreseeable future. Overall, we provide a perspective on the ethical, legal, and social implications (ELSI) of metabolomics, which we argue are often more alarming than those of genomics. Given the current mechanisms to fund research, ELSI beyond human DNA is stifled and in need of considerable attention.

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.