Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

Abstract

Purpose: In response to genetic testing being widely ordered by nongenetics 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, and 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 nine 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), nongenetics 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 nongenetics clinicians. Consultation with genetics clinicians can be targeted toward more complex or intensive consent and disclosure counseling.

Keywords: Genetic counseling,; Genetic testing,; Informed consent; Results disclosure; Rubric.

Figure 1

Description of levels of communication as utilized in the ClinGen CADRe ELSIPlus Consent and Disclosure Rubrics

Figure 2. CADRe ELSIPlus Consent Communication Rubric

Working Definitions: Complexity of testing: A test’s complexity is assessed according to the following elements: incidental finding risk, variant of unknown significance risk, clinical validity, residual risk, and indication. At least 2 areas need to be more complex for the overall test to be considered more complex. [Table: see text] Increased risk of adverse psychological impact: Evidence (publication(s) of acceptable rigor) that the particular condition is associated with increased pre-test or post-test risk of adverse psychological outcomes (e.g., depression, anxiety, distress, coping concerns, or suicidal ideations). This risk can be for tests that detect pathogenic variants, negative tests (e.g., with evidence of survivor guilt), or both. A theoretical concern about adverse psychological outcomes of a test without supporting evidence is insufficient to meet this criterion. Significant risk for near-term mortality: Condition is associated with risk of sudden death (e.g., dilated cardiomyopathy, Marfan syndrome). Two criteria must be met: (1) the Actionability WG has scored the condition as having a severity of 3, and (2) CADRe WG determines that the risk is near-term. Clinically complex management: Identification of a pathogenic/likely pathogenic variant would lead to: (1) the need for a discussion between the patient (or family) and clinician to develop a detailed or complex clinical plan; (2) interventions that carry significant patient burden (e.g., longitudinal multidisciplinary care, significant impact on daily functioning (e.g. dietary restrictions or daily medication requiring monitoring); OR (3) interventions that involve substantial morbidity/mortality risk (e.g. surgical interventions). Quality educational materials: The CADRe WG or ordering clinician has identified material(s) they deem to be written in lay language, broadly accessible, culturally appropriate, and to sufficiently cover the relevant consent or disclosure issues. *Specific to the test or a population, not to a particular patient.

Figure 3

CADRe ELSIPlus Results Disclosure Communication Rubric