Defining the Critical Components of Informed Consent for Genetic Testing

Kelly Ormond, MS, CGC - Stanford University

ELSIconversations - March 26, 2021

The Consent And Disclosure Recommendations (CADRe) workgroup within ClinGen (Clinicalgenome.org) consortia has been examining approaches to consent for genetic testing over the past several years. We have previously published conceptual rubrics to describe which sorts of conditions and/or genetic tests are appropriate for ‘targeted discussion’ approaches, and presented our evaluation of the ACMG Secondary Findings 2.0 list, with other genes currently under evaluation. Since many of our gene ‘curations’ suggest that a targeted discussion approach to consent would be appropriate, and since there is currently no consensus on what that would entail, we turned our attention to defining the components of consent that are considered core by experts in the field. We performed a scoping review of the literature on clinical and research genetic testing consent, and identified 77 concepts for evaluation. This works-in-progress presentation will present results from a 2 stage expert Delphi study, addressing the views of genetics clinicians and bioethicists with experience in genetic testing consent. Delphi Survey 1 has been administered in November 2019, with Survey 2 expected in January 2020. We also expect that a broader survey will be administered in Spring 2020 to clinical genetics providers (via NSGC and ACMG or other professional organizations) to ascertain whether there is agreement with the outcomes of the Delphi survey findings.