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Abstract
Background: Genomic analysis may reveal both primary and secondary findings with direct relevance to the health of probands’ biological relatives. Researchers question their obligations to return findings not only to participants but also to family members. Given the social value of privacy protection, should researchers offer a proband’s results to family members, including after the proband’s death? Methods: Preferences were elicited using interviews and a survey. Respondents included probands from two pancreatic cancer research resources, plus biological and nonbiological family members. Hypothetical scenarios based on actual research findings from the two cancer research resources were presented; participants were asked return of results preferences and justifications. Interview transcripts were coded and analyzed; survey data were analyzed descriptively. Results: Fifty-one individuals (17 probands, 21 biological relatives, 13 spouses/partners) were interviewed. Subsequently, a mailed survey was returned by 464 probands, 1,040 biological family members, and 399 spouses/partners. This analysis highlights the interviews, augmented by survey findings. Probands and family members attribute great predictive power and lifesaving potential to genomic information. A majority hold that a proband’s genomic results relevant to family members’ health ought to be offered. While informants endorse each individual’s choice whether to learn results, most express a strong moral responsibility to know and to share, particularly with the younger generation. Most have few concerns about sharing genetic information within the family; rather, their concerns focus on the health consequences of not sharing. Conclusions: Although additional studies in diverse populations are needed, policies governing return of genomic results should consider how families understand genomic data, how they value confidentiality within the family, and whether they endorse an ethics of sharing. A focus on respect for individual privacy—without attention to how the broad social and cultural context shapes preferences within families—cannot be the sole foundation of policy.
Supplemental data
The data-collection instruments for this article can be accessed at the University of Minnesota’s website for this research project (https://consortium.umn.edu/research/disclosing-genomic-incidental-findings-cancer-biobank-elsi-experiment).
Acknowledgments
The authors thank the Mayo Clinic biobank participants and family members who graciously agreed to be interviewed and complete surveys. We also thank the RAPPORT pancreatic cancer advocacy group for helping with pilot design. We are grateful to the following for assistance with article preparation and data analysis: Katherine Humeniuk, Krista Sigurdson, Jaennika Aniag, Lindsay Forbes, Matthew Norstad, and Jeremy Michelson.
Author contributions
Koenig, G. Petersen, Wolf, and Robinson designed the study. Gordon, Radecki Breitkopf, W. Petersen, Egginton, and Robinson conducted interviews and/or served as qualitative analysts. Koenig, Gordon, Robinson, and Radecki Breitkopf designed the survey; Chaffee and Radecki Breitkopf conducted the survey analysis. Gordon led the qualitative analysis and drafted the article; all authors critically reviewed and approved the final article.
Conflicts of interest
The authors declare no financial relationships with any organizations that might have an interest in the submitted work in the previous 3 years and no other relationships or activities that could appear to have influenced the submitted work.
Ethical approval
This study was approved by the institutional review boards at the University of California, San Francisco, and the Mayo Clinic, Rochester, MN.
Notes
1 While our research focused on the secondary findings discovered in biobanking, we found that participants do not make a clear distinction between primary and secondary research findings. Thus, we include both types of findings in our analysis of offering results to family members.
2 Our analysis of the legal and regulatory privacy practices focuses on the United States. In the United Kingdom, family-oriented privacy, sharing, and consent protocols have been recommended in clinical genetic practice since 2011 (Lucassen and Hall Citation2012).
3 The Health Insurance Portability and Accountability Act (HIPAA) privacy law has several exceptions that allow a pathway for information sharing with family members. For example, HIPAA allows return of information to the physician of a family member who needs it for health purposes (Wolf et al. Citation2015). Some state laws also allow avenues for family member access.
4 See online supplemental materials for the Interview Guides (z.umn.edu/gifd1interviewguide).
5 Initially, the association of these genetic variants with pancreatic cancer risk was hypothesized but not yet known. Thus, we first thought of the variants as incidental findings. In reality, the line between primary and secondary findings is hard to draw.
6 See online supplemental materials for the educational materials (z.umn.edu/gifd2edumats).
7 We chose the neutral, lay term of “unexpected” findings, rather than “secondary” or “incidental,” in order to avoid confusion.
8 We are using the term “offering” results, in contrast to “returning” results, to make clear that those who receive an offer are not obligated to receive the information proffered. We are also not referring to the distinction between passive and active disclosure by a researcher, that is, the researcher’s obligations when a proband or family member requests information versus the researcher’s obligations to proactively contact participants about research findings, a key distinction highlighted in our policy recommendations (Wolf et al. Citation2015).
9 See online supplemental materials for Code Book (z.umn.edu/gifd3codebook).
10 The memos included a general overview and summary of the material in the code, a description of the range of responses, and important and illustrative quotes. Drafts were circulated and discussed among team members on weekly or biweekly conference calls and then finalized. When possible, a table of the verbatim responses to a question by each participant was prepared, some of which permitted analysis of frequencies.
11 See online supplemental materials for the survey instrument (z.umn.edu/gifd4survey).
12 The survey was mailed to a total of 6,103 individuals; the analysis presented here excludes 2,792 controls because those controls were “healthy” individuals attending a general medical exam at Mayo Clinic. As noted earlier, probands and family members were selected independently; no effort was made to recruit complete families.
13 A “familial” case has other known family members with pancreatic cancer; a “sporadic” case has none. Often these categories are congruent with a registry or biobank designation. However, these categories are not stable; some start out labeled sporadic but later become familial as more is known. Also, we discovered that how probands and family members identified themselves did not necessarily coincide with the biobank designation. For example, some participants in the family registry did not conceive of their cancer as “familial.”
14 These questions derived initially from concerns raised by biobank and cancer registry investigators at the time, from the literature, and from the experience of the authors. They were further derived inductively through analysis of the study data, in part guided by the concept of “family ethics of disclosure.”
15 It should be noted, however, that many said that preventability or treatability of a condition did not matter and that genetic results should be offered nonetheless.
16 The discourse of “preemptive” medicine (averting disease) as one of the 4 “Ps” was put forth by former NIH director Elias Zerhouni; he endorsed a translational research paradigm leading to a medical system that is “predictive, personalized, preemptive, and participatory” (Zerhouni Citation2007).
17 Some may disagree with this interpretation. Law, ethics, and policy do recognize the need to balance the privacy of the proband with the concerns of the family in some circumstances. Consider, for example, the debate since the early 1990s about the duty to warn family members. In this article, we argue that privacy policies privileging the individual take on a form of cultural dominance because of the ubiquitous clinical presence of Health Insurance Portability and Accountability Act (HIPAA) privacy practices. The exceptions are much less well known and available.