You Never Call, You Never Write: Why Return of ‘omic‘ Results to Research Participants is Both a Good Idea and a Moral Imperative

Abstract

The rapid emergence of whole-genome and whole-exome sequencing of research participants has helped to revive the debate about whether genetic and other ‘omic’ data should be returned to research participants, and if so, which data, under what circumstances and by whom. While partial disclosure of such data has been justified in cases where participants’ lives and health are threatened, full disclosure appears to remain beyond the pale for most researchers and bioethicists. I argue that it should not be and that the objections to full disclosure short-sightedly favor near-term considerations over long-term benefits. Return of genomic data to those who want it, even if a difficult undertaking and even if the meaning of the data is unclear, engages participants in science and the research enterprise, and positions them to be better stewards of their own health and wellbeing.

Self-guided management of exome and whole-genome sequencing results: changing the results return model

“…Bioethics research, albeit limited, and policy recommendations on return of individual ES/WGS (iES/WGS) results to date have focused mainly on issues such as what results should be returned in a clinical setting, 14–16 whether results should be returned at all in a research setting and if so which results, 17–27 and what to do about incidental findings in either setting. 8,27–36 The spectrum of opinions that has emerged about these issues is broad with fairly polarized extremes.…”

“…28 In contrast, others have suggested, often with attribution to the policies of direct-to-consumer genetic testing companies, that all iES/WGS results should be made available to persons who are sequenced. 17 While such normative research on these issues is of intrinsic value, it is likely to be of limited heuristic value now that ES/WGS is cheap, fast, and convenient; broadly accessible to researchers, primary care providers and the public alike; 40 and being applied in an increasing range of applications (e.g., non-invasive fetal genetic diagnosis and diagnostic evaluation, genomic research). 40–42 In other words, clinicians and researchers who elect to return results alike are facing right now the practical issue of how to return iES/WGS results.…”

“…Studying and reformulating standard approaches are likely to fall short given the scope of returnable results and individuals’ desires to receive results. 17,47,66 …”

Living laboratory: whole‐genome sequencing as a learning healthcare enterprise

“…Setting aside the contested notions of “actionability” and “clinical utility”, we begin from the premise that offering to return individual research results to study participants is an act of respect and good faith (60, 61) that both fulfills the principle of justice (62) and is likely to redound to the investigator by engendering good will among participants (63, 64). It has become increasingly clear that the majority of patients and genetic research participants are interested in receiving off-target data (19, 60, 65–68).…”

“…Yet recent scholarship suggests that the therapeutic misconception may be an unhelpfully reductive concept, and that participants enroll in research for a nuanced mix of reasons including salutary optimism and hope (77–80). In other cases it seems clear that consent-form language itself (“Who will be my doctor on this study?”) can explicitly promote the therapeutic misconception (64). Regardless, it strikes us as perverse to conclude a priori that benefitting research participants is somehow an undesirable byproduct of the research process, as long as the nature and likelihood of any prospective benefits are made clear to research participants and are reasonable given competing demands on finite resources.…”