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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.

SUBMITTER: Ormond KE

PROVIDER: S-EPMC6320736 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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

Ormond Kelly E KE Hallquist Miranda L G MLG Buchanan Adam H AH Dondanville Danielle D Cho Mildred K MK Smith Maureen M Roche Myra M Brothers Kyle B KB Coughlin Curtis R CR Hercher Laura L Hudgins Louanne L Jamal Seema S Levy Howard P HP Raskin Misha M Stosic Melissa M Uhlmann Wendy W Wain Karen E KE Currey Erin E Faucett W Andrew WA

Genetics in medicine : official journal of the American College of Medical Genetics 20180706 3

<h4>Purpose</h4>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 re ...[more]

PMID: 29976988

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Dataset Information

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

Publications

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

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