Public's Views toward Return of Secondary Results in Genomic Sequencing: It's (Almost) All about the Choice

Abstract

The therapeutic use of genomic sequencing creates novel and unresolved questions about cost, clinical efficacy, access, and the disclosure of sequencing results. The disclosure of the secondary results of sequencing poses a particularly challenging ethical problem. Experts disagree about which results should be shared and public input – especially important for the creation of disclosure policies – is complicated by the complex nature of genetics. Recognizing the value of deliberative democratic methods for soliciting informed public opinion on matters like these, we recruited participants from a clinical research site for an all-day deliberative democracy (DD) session. Participants were introduced to the clinical and ethical issues associated with genomic sequencing, after which they discussed the tradeoffs and offered their opinions about policies for the return of secondary results. Participants (n=66; mean age = 57 (SD = 15); 70% female; 76% white) were divided into 10 small groups (5 to 8 participants each) allowing interactive deliberation on policy options for the return of three categories of secondary results: 1) medically actionable results; 2) risks for adult-onset disorders identified in children; and 3) carrier status for autosomal recessive disorders. In our qualitative analysis of the session transcripts, we found that while participants favored choice and had a preference for making information available, they also acknowledged the risks (and benefits) of learning such information. Our research reveals the nuanced reasoning used by members of the public when weighing the pros and cons of receiving genomic information, enriching our understanding of the findings of surveys of attitudes regarding access to secondary results.

In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research

“…As PMR initiatives move forward and collect biological, environmental, and lifestyle-related data, the scope of results that may be returned to research participants is likely to extend beyond the traditional focus on clinical genomic findings. Indeed, access to research findings is increasingly viewed as an extension of informed consent and personal choice in research participation, including PMR [2], with some scholars also suggesting that it is -or should be recognized as -a participant's right [28]. RoR is further driven by emerging notions of participation, reciprocity, and social justice in health research.…”

“…What to return, to whom, who decides, and what impact such data might have on the psychosocial wellbeing of research participants [1] have received growing national and international attention. Although the answers to these questions vary among public [2][3][4] and scientific [5][6][7][8] stakeholders, studies indicate that many research participants [4,[9][10][11] express interest in receiving genetic results, especially results that show an increased risk for preventable or treatable diseases, adverse responses to medication, and carrier status with reproductive implications. These findings play a role in the increasingly common practice of offering return of genetic results to research participants and were endorsed by the national precision medicine research (PMR) initiative, i.e., the All of Us Research Program, which promises that cohort participants will have access to their own data and analyzed results [12,13].…”

Consent and Autonomy in the Genomics Era

“…Evidence suggests that with increasing knowledge of these issues, people tend to make more conservative choices as to what they might want communicated from genome sequencing [ 40 , 41 ]: the perceived value of genomic information may decline with increasing familiarity with the field. However, this must be juxtaposed against research that indicates that many people have a strong desire to receive even uncertain findings from genetic and genomic tests [ 42 ].…”

The preferences of potential stakeholders in psychiatric genomic research regarding consent procedures and information delivery

“…Using genomic sequencing in research challenges the current approach to informed consent and the return of incidental findings to research subjects [7][8][9][10][11][12][13][14][15]. International agreements and standards of ethical conduct, such as the Declaration of Helsinki, have mainly focused on protecting individuals from the potential dangers of participating in research and obtaining full informed consent from research subjects [16,17].…”