Sharp, Richard R

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.

Introduction: There is debate over whether Apolipoprotein L1 (APOL1) gene risk variants contribute to African American (AA) live donors’ (LD) increased risk of kidney failure. Little is known about factors influencing physicians’ integration of APOL1 genetic testing of AA LDs into donor evaluation. Design: We conducted a cross-sectional survey, informed by Roger’s Diffusion of Innovations theory, among nephrology and surgeon members of the American Society of Nephrology, American Society of Transplantation, and American Society of Transplant Surgeons about their practices of and attitudes about APOL1 genetic testing of AA potential LDs. Descriptive statistics and bivariate analyses were performed. Results: Of 383 completed surveys, most physicians believed that APOL1 testing can help AA LDs make more informed donation decisions (87%), and the addition of APOL1 testing offers better clinical information about AA LD’s eligibility for donation than existing evaluation approaches (74%). Among respondents who evaluate LDs (n = 345), 63% would definitely or probably begin or continue using APOL1 testing in the next year, however, few use APOL1 testing routinely (4%) or on a case-by-case basis (14%). Most did not know the right clinical scenario to order APOL1 testing (59%), but would use educational materials to counsel AA LDs about APOL1 testing (97%). Discussion: Although physicians were highly supportive of APOL1 genetic testing for AA LDs, few physicians use APOL1 testing. As more physicians intend to use APOL1 testing, an ethical framework and clinical decision support are needed presently to assist clinicians in clarifying the proper indication of APOL1 genetic testing.

We examined the Institutional Review Board (IRB) process at 9 academic institutions in the electronic Medical Records and Genomics (eMERGE) Network, for proposed electronic health record-based genomic medicine studies, to identify common questions and concerns. Sequencing of 109 disease related genes and genotyping of 14 actionable variants is being performed in ~28,100 participants from the 9 sites. Pathogenic/likely pathogenic variants in actionable genes are being returned to study participants. We examined each site’s research protocols, informed-consent materials, and interactions with IRB staff. Research staff at each site completed questionnaires regarding their IRB interactions. The time to prepare protocols for IRB submission, number of revisions and time to approval ranged from 10–261 days, 0–11, and 11–90 days, respectively. IRB recommendations related to the readability of informed consent materials, specifying the full range of potential risks, providing options for receiving limited results or withdrawal, sharing of information with family members, and establishing the mechanisms to answer participant questions. IRBs reviewing studies that involve the return of results from genomic sequencing have a diverse array of concerns, and anticipating these concerns can help investigators to more effectively engage IRBs.

Policy Points: The policy context of direct‐to‐consumer personal genomic testing (DTC‐PGT) has been evolving over the last decade, with little empirical data available about consumers’ perspectives. A majority of consumers of DTC‐PGT supported expanded access to services and their integration into the medical context and opposed more governmental regulation. Consumers’ attitudes about access to services and regulation did not vary based on the specific genetic risk information they received from companies, but may vary based on whether consumers perceived their DTC experience negatively. ContextWhile policymakers have been considering the appropriateness of direct‐to‐consumer personal genomic testing (DTC‐PGT) for more than a decade, there is little empirical data on consumers’ views regarding the regulation of these products. No research has assessed whether consumers’ personal experience with testing is related to their views about access to and regulation of DTC tests.MethodsData were analyzed from the PGen Study, a longitudinal prospective cohort of DTC‐PGT customers of 23andMe (n = 564) and Pathway Genomics (n = 377; total N = 941). Consumers were sent an electronic survey before receiving genetic test results and again 6 months after receipt of results.FindingsAt the 6‐month follow‐up, more than 80% of participants believed that people have a right to access genetic information directly, that parents should be able to get DTC‐PGT testing for their children, and that genetic information should be kept private. Participants supported health insurance coverage of PGT (60%), wider availability of PGT (68%), and inclusion of genetic information in medical records (63%). Participants were less supportive of government regulation (28%) and restricting testing to clinical settings (14%). Conservative political ideology was associated with less support for government regulation (P < 0.001), as was feeling more confident in one's genetic knowledge (P < 0.05). Participants’ level of computed genetic risk for common diseases, as indicated by their actual test results received from companies, showed no relationship with attitudes. However, those who perceived that they had received elevated risk results expressed lower support for expanded availability and incorporation of PGT into health care (P < 0.01). Those who reported being upset by their genetic test results were less likely to endorse access to DTC products without a medical professional (P < 0.01).ConclusionsPGT consumers supported expanded access to these services and opposed additional regulation. Users who had a negative personal experience with PGT testing were less supportive of expanded availability without a medical professional.

If untreated, most children with severe combined immunodeficiency disorder (SCID) will die of complications of infection within the first 2 years of life. Early hematopoietic stem cell transplant (HSCT) is the current standard of care for this disease. Although potentially lifesaving, prognosis of HSCT in SCID is variable depending on a number of host and donor factors. Of the survivors, many develop secondary problems such as chronic graft-versus-host disease or even second malignancies. Posttransplant care is complex and requires great effort from parents to adhere to difficult treatment regimens. In this article, we address the difficult ethical question of what to do if parents choose not to have their child with SCID undergo HSCT but prefer palliative care.

AbstractClinical research ethics consultation services have been established across academic health centers over the past decade. This paper presents the results of collaboration within the CTSA consortium to develop a standard approach to the collection of research ethics consultation information to serve as a foundation for quality improvement, education, and research efforts. This approach includes categorizing and documenting descriptive information about the requestor, research project, the ethical question, the consult process, and describing the basic structure for a consult note. This paper also explores challenges in determining how to share some of this information between collaborating institutions related to concerns about confidentially, data quality, and informatics. While there is much still to be learned to improve the process of clinical research ethics consultation, these tools can advance these efforts, which, in turn, can facilitate the ethical conduct of research.

Abstract Background: Research biobanks collect biologic samples and health information. Previous work shows that biobank participants desire general study updates, but preferences about the method or frequency of these communications have not been explored. Thus, we surveyed participants in a long-standing research biobank. Methods: Eligible participants were drawn from a study of patients with personal/family history suggestive of Cowden syndrome, a poorly recognized inherited cancer syndrome. Participants gave blood samples and access to medical records and received individual results but had no other study interactions. The biobank had 3,618 participants at sampling. Survey eligibility included age ≥18 years, enrollment within the biobank's first 5 years, normal PTEN analysis, and contiguous U.S. address. Multivariate logistic regression analyses identified predictors of participant interest in Internet-based versus offline methods and methods allowing participant–researcher interaction versus one-way communication. Independent variables were narrowed by independent Pearson correlations by cutoff P &lt; 0.2, with P &lt; 0.02 considered significant. Results: Surveys were returned from 840 of 1,267 (66%) eligible subjects. Most (97%) wanted study updates, with 92% wanting updates at least once a year. Participants preferred paper (66%) or emailed (62%) newsletter methods, with 95% selecting one of these. Older, less-educated, and lower-income respondents strongly preferred offline approaches (P &lt; 0.001). Most (93%) had no concerns about receiving updates and 97% were willing to provide health updates to researchers. Conclusion: Most participants were comfortable receiving and providing updated information. Demographic factors predicted communication preferences. Impact: Researchers should make plans for ongoing communication early in study development and funders should support the necessary infrastructure for these efforts. Cancer Epidemiol Biomarkers Prev; 24(4); 708–12. ©2015 AACR.