Defining the Critical Components of Informed Consent for Genetic Testing: A Delphi Study

Abstract

PurposeInformed consent for genetic testing has historically happened during pre-test genetic counseling, without specific guidance defining which core concepts are required. MethodsThe Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations Workgroup (CADRe) used a modified Expert Delphi consensus process to identify the core concepts essential to consent for clinical genetic testing. A literature review identified 77 concepts that are included in informed consent for genetic tests. Twenty five experts (9 medical geneticists, 8 genetic counselors, and 9 bioethicists) completed two rounds of Delphi surveys ranking concepts importance to informed consent. ResultsThe most highly ranked concepts included: (1) genetic testing is voluntary; (2) why the test is recommended and what does it test for; (3) what results will be returned and to whom; (4) are there other types of potential results; what choices exist; (5) how will prognosis and management be impacted by results; (6) what is the potential family impact; (7) what are the test limitations and next steps; (8) potential risk for genetic discrimination and legal protections. ConclusionDefining the core concepts necessary for informed consent for genetic testing provides a foundation for quality patient care across a variety of healthcare providers and clinical indications.