Kelly E Ormond1, Miranda L G Hallquist2, Adam H Buchanan2, Danielle Dondanville3, Mildred K Cho4, Maureen Smith5, Myra Roche6, Kyle B Brothers7, Curtis R Coughlin8, Laura Hercher9, Louanne Hudgins10, Seema Jamal11, Howard P Levy12, Misha Raskin2,13, Melissa Stosic14, Wendy Uhlmann15, Karen E Wain2, Erin Currey16, W Andrew Faucett2. 1. Department of Genetics and Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, California, USA. kormond@stanford.edu. 2. Geisinger, 100 North Academy Avenue, Danville, Pennsylvania, 17822, USA. 3. Department of Genetics, Stanford University School of Medicine, Stanford, California, USA. 4. Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, California, USA. 5. Northwestern University, Evanston, Illinois, USA. 6. Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA. 7. Department of Pediatrics, University of Louisville, Louisville, Kentucky, USA. 8. Department of Pediatrics, Center for Bioethics and Humanities, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA. 9. Sarah Lawrence College, Bronxville, New York, USA. 10. Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA. 11. GeneDx, 207 Perry Pkwy, Gaithersburg, Maryland, 20877, USA. 12. Johns Hopkins University, Baltimore, Maryland, USA. 13. Helix, 3505 West Sam Houston Parkway North Suite 400, Houston, Texas, 77043, USA. 14. Columbia University, New York, New York, USA. 15. University of Michigan, Ann Arbor, Michigan, USA. 16. National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
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.
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.
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