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

Abstract

Purpose: Large-scale array-based and sequencing studies have advanced our understanding of the genetic architecture of psychiatric disorders, but also increased the potential to generate an exponentially larger amount of clinically relevant findings. As genomic testing becomes more widespread in psychiatry research, urgency grows to establish best practices for offering return of results (RoR) to individuals at risk or diagnosed with a psychiatric disorder. Methods:We interviewed an international sample (n = 39) of psychiatric genetics researchers to examine conceptualizations of "best practices" for RoR to individual research participants.Results: While the vast majority of researchers do not offer RoR, most believed medically actionable findings (85%) and clinically valid but non-medically actionable findings (54%) should be offered. Researchers identified three main areas for improvement: interfacing with individual participants; interdisciplinary training, guidance, and integration; and quality planning and resource allocation for returning results.Conclusion: There are significant gaps between researchers' visions for "best" versus "actual" RoR practices. While researchers call for participant-centered practices, including consent practices that consider any special needs of participants with psychiatric disorders, return of individually meaningful results, and effective follow-up and provisions for treatment, the current reality is that consent and RoR practices lack standardized and evidencebased norms. (2020) 22:345-352; https://doi. Genetics in Medicine

Genetic feedback for psychiatric conditions: Where are we now and where are we going

“…Despite these unresolved issues and contradictory findings, a recent survey of psychiatric genetic researchers indicated that 85% of basic scientists were in favor of returning genotypic information in some type of capacity (Kostick et al, 2018;Kostick, Pereira, Brannan, Torgerson, & Lázaro-Muñoz, 2019). Therefore, it is important to understand the complex issues surrounding the return of genotypic information in order to ensure that translation of psychiatric genetic research into clinical practice maximizes possible benefits and minimizes potential harms.…”

Perceptions of best practices for return of results in an international survey of psychiatric genetics researchers

“…The survey was developed based on the extant literature and the results of a previous study in which we (GL-M, SP) interviewed 39 psychiatric genetics researchers from 17 countries about their perspectives toward returning genetic research results to individual participants [6,7]. Data were collected with five-point Likert items with response options from "strongly disagree" to "strongly agree" with a neutral midpoint ("neither agree nor disagree") with the exception of two items examining respondents' preference regarding which professional should return results and how (modality) results should be returned.…”

“…In fact, most laboratories likely do not have clinicians qualified to disclose this information. Furthermore, previous research suggests that many psychiatric genetics researchers believe it is important to help ensure that patient-participants whose results reveal or confirm increased risk for a psychiatric disorder have access to care [7]. The lack of clinicians that could communicate the implications of findings on many projects and concern about follow-up care may explain why an unexpectedly high number of respondents agreed that patient-participant results should be returned through the participant's treating psychiatrist.…”

“…Given recent advances in identifying genomic correlates of polygenic conditions, such as psychiatric disorders, and the expanded use of more comprehensive singlenucleotide polymorphism (SNP) arrays and genome and exome sequencing, psychiatric genetics researchers are increasingly managing questions about whether and how to return individual results to participants [5][6][7]. There is an emerging consensus among genetics researchers, including psychiatric geneticists [6][7][8][9], and research sponsors that some medically relevant genetic findings should be offered to participants. In addition, most research participants expect that researchers will return medically relevant information to them [10,11].…”

“…Empirically informed and ethically justified guidelines for returning genetic research results to patient-participants in psychiatric genetics research are critically needed because this is a quickly expanding field of genetics and return of results is a growing practice in this area (GL-M, unpublished data) [6,7]. Furthermore, though there is a lack of data on how patients with psychiatric disorders actually respond to genetic research results, the symptoms that characterize many psychiatric disorders suggest these patients are more likely to experience psychosocial harms in response to receiving results compared to control or "healthy" participants.…”