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

Kelly E. Ormond*, Miranda L.G. Hallquist, Adam H. Buchanan, Danielle Dondanville, Mildred K. Cho, Maureen Smith, Myra Roche, Kyle B. Brothers, Curtis R. Coughlin, Laura Hercher, Louanne Hudgins, Seema Jamal, Howard P. Levy, Misha Raskin, Melissa Stosic, Wendy Uhlmann, Karen E. Wain, Erin Currey, W. Andrew Faucett

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)727-735
Number of pages9
JournalGenetics in Medicine
Volume21
Issue number3
DOIs
StatePublished - Mar 1 2019

Keywords

  • Genetic counseling
  • Genetic testing
  • Informed consent
  • Results disclosure
  • Rubric

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background'. Together they form a unique fingerprint.

Cite this