Psychiatric genetics researchers' views on offering return of results to individual participants

Abstract

In the middle of growing consensus that genomics researchers should offer to return clinically valid, medically relevant, and medically actionable findings identified in the course of research, psychiatric genetics researchers face new challenges. As they uncover the genetic architecture of psychiatric disorders through genome-wide association studies and integrate whole genome and whole exome sequencing to their research, there is a pressing need for examining these researchers' views regarding the return of results (RoR) and the unique challenges for offering RoR from psychiatric genetics research. Based on qualitative interviews with 39 psychiatric genetics researchers from different countries operating at the forefront of their field, we provide an insider's view of researchers' practices regarding RoR and the most contentious issues in psychiatry researchers' decision-making around RoR, including what are the strongest ethical, scientific, and practical arguments for and against offering RoR from this research. Notably, findings suggest that psychiatric genetics researchers (85%) overwhelmingly favor offering RoR of at least some findings, but only 22% of researchers are returning results. Researchers identified a number of scientific and practical concerns about RoR, and about how to return results in a responsible way to patients diagnosed with a severe psychiatric disorder. Furthermore, findings help highlight areas for further discussion and resolution of conflicts in the practice of RoR in psychiatric genetics research. As the pace of discovery in psychiatric genetics continues to surge, resolution of these uncertainties gains greater urgency to avoid ethical pitfalls and to maximize the positive impact of RoR. K E Y W O R D S attitudes, empirical, genetic, psychiatry, qualitative

Psychiatric genomics researchers’ perspectives on best practices for returning results to individual participants

“…In addition, there are aspects of psychiatric genetics research that make scalable and responsible return of results particularly challenging. 10 The large samples necessary to detect small effect sizes of genomic loci that contribute to the overall risk for these disorders raise the cost of returning individual results in these studies. 1,3 Further, the polygenic nature of psychiatric disorders and the important role of environmental factors in psychiatry may complicate the interpretation of research findings.…”

“…Despite increasing consensus that some clinically relevant findings should be offered to individual participants in genomics research, 6,8,[16][17][18] including psychiatric genetics, 10,[19][20][21] there is little empirical data about how to ideally manage return of results (RoR) in the psychiatric genetics research context. 22,23 Most research on RoR in genetics research has focused on whether results should be offered, and the perceived risks and benefits of returning results, [7][8][9]18,24,25 along with which types of results (e.g., medically actionable, clinically valid but not actionable) are justifiable and recommended to return.…”

“…10,20 They are similarly motivated to return results, but also voice significant uncertainty about how to weigh a participant's "right to know" against researchers' desire to protect individuals with a psychiatric disorder from receiving results that could impart psychosocial harms, such as stress, anxiety, increased stigma, and discrimination. 7,10 While these studies have opened a broader dialogue about whether results should be offered and why, only a few empirical studies to date have specifically addressed which results should be offered and how results should be returned in psychiatric genetics research. [19][20][21]27 No empirical study has examined these issue from the perspective of psychiatric genomics researchers who are key stakeholders in implementing plans for returning results.…”

International Society of Psychiatric Genetics Ethics Committee: Issues facing us

“…In general, studies indicate that patients with mental health disorders, their relatives, and clinicians overwhelmingly favor offering return of results for individual participants (Sundby et al, ). In a study published in this issue, Kostick, Brannan, Pereira, and Lázaro‐Muñoz () reported that the vast majority of psychiatric genetics researchers interviewed also support the return of at least some findings. However, return of results does not seem to be a common practice in psychiatric genetics research; 22% of researchers reported that they are offering return of results in at least one study (Kostick et al, ).…”

The need for attention to the ethical, legal, and social implications of advances in psychiatric genomics

“…Kostick and colleagues () present results from 39 interviews with psychiatric genetics researchers from around the world on the topic of return of results to individual participants in psychiatric genetic research. Researchers overwhelmingly favored offering some findings to individual participants, but expressed concerns regarding how this information may affect patient‐participants, logistics and resources for returning results, and how the information should be offered and returned in a responsible way.…”