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 language | English (US) |
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Pages (from-to) | 727-735 |
Number of pages | 9 |
Journal | Genetics in Medicine |
Volume | 21 |
Issue number | 3 |
DOIs | |
State | Published - Mar 1 2019 |
Funding
ClinGen is primarily funded by the National Human Genome Research Institute (NHGRI) through the following three grants: U41HG006834, U41HG009649, U41HG009650. The NHGRI Ethical, Legal and Social Implications Research Program provided supplemental funding to the CADRe Workgroup through grants U01HG007437 and U41HG009649. ClinGen also receives support for content curation from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), through the following three grants: U24HD093483, U24HD093486, U24HD093487. Thanks to Dave Kaufman, Erin Ramos, Nicole Lockhart, and Eric Tricou (who provide ex officio support to the CADRe committee), Alice Popejoy (for editorial comments), and Josie Pervola and Tacy Framhein (for assistance in recruitment and scheduling of the interviews and focus groups).
Keywords
- Genetic counseling
- Genetic testing
- Informed consent
- Results disclosure
- Rubric
ASJC Scopus subject areas
- Genetics(clinical)