Developing a Conceptual, Reproducible, Rubric-Based Approach to Consent and Result Disclosure for Genetic Testing by Clinicians with Minimal Genetics Background

PURPOSE: In response to genetic testing being widely ordered by non-genetics clinicians, the Consent and Disclosure Recommendations (CADRe) Workgroup of the Clinical Genome Resource (ClinGen; clinicalgenome.org) developed guidance to facilitate communication about genetic testing and efficiently improve the patient experience. Considering ethical, legal, social implications and medical factors, CADRe developed and pilot tested two rubrics addressing consent for genetic testing and results disclosure. The CADRe rubrics allow for adjusting the communication approach based on circumstances specific to patients and ordering clinicians. METHODS: We present results of a formative survey of 66 genetics clinicians to assess the consent rubric for 9 genes (MLH1, CDH1, TP53, GJB2, OTC; DMD, HTT, and CYP2C9/VKORC1). We also conducted interviews and focus groups with family and patient stakeholders (N=18), non-genetics specialists (N=27) and genetics clinicians (N=32) on both rubrics. RESULTS: Formative evaluation of the CADRe rubrics suggests key factors on which to make decisions about consent and disclosure discussions for a ‘typical’ patient. CONCLUSION: We propose that the CADRe rubrics include the primary issues necessary to guide communication recommendations, and are ready for pilot testing by non-genetics clinicians. Consultation with genetics clinicians can be targeted towards more complex or intensive consent and disclosure counseling.