Application of a framework to guide genetic testing communication across clinical indications

Genome Medicine

Julianne M. O’Daniel¹  Kelly E. Ormond²  Hannah Wand²  Wendy R. Uhlmann³  Melissa Stosic⁴  Karen E. Wain⁵  Adam H. Buchanan⁵  Miranda L. G. Hallquist⁵  W. Andrew Faucett⁵  Juliann M. Savatt⁵  Eric P. Tricou⁶  Howard P. Levy⁷  Maureen Smith⁸  Holly L. Peay⁹  Laura Hercher^1,10  Curtis R. Coughlin^1,11 

[1] Department of Genetics Genetic Medicine Building, University of North Carolina at Chapel Hill, 120 Mason Farm Rd, CB # 7264, 27514, Chapel Hill, NC, USA;Department of Genetics and Stanford Center for Biomedical Ethics, Center for Academic Medicine, Stanford University School of Medicine, 453 Quarry Road, 94304, Stanford, CA, USA;Department of Internal Medicine, Division of Genetic Medicine, University of Michigan Medicine, 300 North Ingalls, NI3 A03, SPC 5419, 48109-5419, Ann Arbor, MI, USA;DotLab, 780 E Main St, Suite 1, 06405, Branford, CT, USA;Geisinger, 100 N Academy Blvd, 17822, Danville, PA, USA;Geisinger, 100 N Academy Blvd, 17822, Danville, PA, USA;Department of Genetics and Stanford Center for Biomedical Ethics, Center for Academic Medicine, Stanford University School of Medicine, 453 Quarry Road, 94304, Stanford, CA, USA;Johns Hopkins University Division of General Internal Medicine and McKusick-Nathans Institute of Genetic Medicine, 0753 Falls Rd, Suite 325, Lutherville, MD, USA;Northwestern University Feinberg School of Medicine, 310 E. Superior St., 60611-3008, Chicago, IL, USA;RTI International, 3040 E Cornwallis Rd, 27709, Research Triangle Park, NC, USA;Sarah Lawrence College Joan H. Marks Graduate Program in Human Genetics, 1 Mead Way, 10708, Bronxville, NY, USA;University of Colorado Department of Pediatrics and Center for Bioethics and Humanities, University of Colorado Anschutz Medical Campus, 80045, Aurora, Colorado, USA;

关键词: Genetic testing;    Genetic counseling;    Informed consent;    Results disclosure;    Access;    Service delivery;   

DOI  :  10.1186/s13073-021-00887-x

来源: Springer

【 摘 要 】

BackgroundGenetic information is increasingly relevant across healthcare. Traditional genetic counseling (GC) may limit access to genetic information and may be more information and support than some individuals need. We report on the application and clinical implications of a framework to consistently integrate genetics expertise where it is most useful to patients.MethodsThe Clinical Genome Resource’s (ClinGen) Consent and Disclosure Recommendations (CADRe) workgroup designed rubrics to guide pre- and post-genetic test communication. Using a standard set of testing indications, pre- and post-test rubrics were applied to 40 genetic conditions or testing modalities with diverse features, including variability in levels of penetrance, clinical actionability, and evidence supporting a gene-disease relationship. Final communication recommendations were reached by group consensus.ResultsCommunication recommendations were determined for 478 unique condition-indication or testing-indication pairs. For half of the conditions and indications (238/478), targeted discussions (moderate communication depth) were the recommended starting communication level for pre- and post-test conversations. Traditional GC was recommended pre-test for adult-onset neurodegenerative conditions for individuals with no personal history and post-test for most conditions when genetic testing revealed a molecular diagnosis as these situations are likely higher in complexity and uncertainty. A brief communication approach was recommended for more straightforward conditions and indications (e.g., familial hypercholesterolemia; familial variant testing).ConclusionsThe CADRe recommendations provide guidance for clinicians in determining the depth of pre- and post-test communication, strategically aligning the anticipated needs of patients with the starting communication approach. Shorter targeted discussions or brief communications are suggested for many tests and indications. Longer traditional GC consultations would be reserved for patients with more complex and uncertain situations where detailed information, education, and psychological support can be most beneficial. Future studies of the CADRe communication framework will be essential for determining if CADRe-informed care supports quality patient experience while improving access to genetic information across healthcare.

【 授权许可】

CC BY