Models Of Informed Consent For Genomic Sequencing

Abstract

Genome sequencing (GS) is becoming prevalent in medical research and making its way into clinical practice. Although genetic testing is used less frequently in psychiatry than in some related medical specialties, such as neurology, its use is growing, e.g., for the diagnosis of neurodevelopmental syndromes with psychiatric components, such as DiGeorge’s syndrome and Fragile X. Psychiatric researchers are using GS to explore the genetic etiology of disorders such as schizophrenia, bipolar disorder, autism, and intellectual disabilities and its clinical use seems likely to follow. Hence, psychiatric researchers and clinicians need to grapple with how best to obtain informed consent for GS.A number of challenges exist for the consent process, including the large amount of information that needs to be conveyed. Persons facing choices about GS must understand, along with the standard disclosures that accompany any clinical or research consent: the nature of their situation and why the test is being recommended; likely benefits and risks, such as discrimination in insurance; and how secondary findings will be dealt with—a particularly difficult topic because at the time researchers and clinicians will know neither the likely findings nor their potential implications. Moreover, persons affected by psychiatric disorders may have difficulties in attention and information processing that can complicate their assimilation of this information.To explore approaches to consent for GS, we surveyed 254 genetic researchers in the US, almost all of whom had used or anticipated using GS. A majority endorsed discussion of a wide range of risks (e.g., negative psychological responses) and benefits (e.g., early detection of disorders, enhanced life-planning), along with information about possible impact of findings on family members; protections for confidentiality; procedures related to return of data should participants become impaired or deceased; whether findings from subsequent research or advances in interpretation would be offered; and whether and how choices about return of findings could be overridden. When return of secondary findings is possible, these discussions will have to cover both primary and secondary results, and explanations of a number of choices about receipt of results and use of samples.However, it is clear that neither clinicians nor researchers have time for such extended discussions, especially given the limits of popular knowledge of genetics. Thus, innovative models of informed consent will need to be developed. Based on our survey findings, we identified 4 such models: traditional consent, staged consent, mandatory return, and outsourced consent. A follow-up survey of 198 genetic researchers found that, despite their liabilities, traditional approaches to consent are seen as the most viable under current circumstances. However, there is considerable interest in staged consent, assuming the infrastructure to support it can be provided.This presentation will review the challenges to obtaining informed consent for GS; data on researchers’, clinicians’, and patients’ preferences for information; and potential approaches to consent that will allow participants and patients to make meaningful choices about genomic sequencing and return of results.