Abstract
Background: Genetic 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. Methods: The 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. Results: Communication 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). Conclusions: The 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.
Original language | English (US) |
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Article number | 71 |
Journal | Genome Medicine |
Volume | 13 |
Issue number | 1 |
DOIs | |
State | Published - Dec 2021 |
Funding
This work was supported by the National Human Genome Research Institute of the National Institutes of Health under award numbers: U41HG009650 and U41HG009649. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
Keywords
- Access
- Genetic counseling
- Genetic testing
- Informed consent
- Results disclosure
- Service delivery
ASJC Scopus subject areas
- Molecular Medicine
- Molecular Biology
- Genetics
- Genetics(clinical)
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Application of a framework to guide genetic testing communication across clinical indications
Hallquist, M. L. G. (Creator), Tricou, E. P. (Creator), Ormond, K. E. (Creator), Savatt, J. M. (Creator), Coughlin, C. R. (Creator), Faucett, W. A. (Contributor), Hercher, L. (Creator), Levy, H. P. (Creator), O’Daniel, J. M. (Creator), Peay, H. L. (Creator), Stosic, M. (Creator), Smith, M. (Creator), Uhlmann, W. R. (Creator), Wand, H. (Creator), Wain, K. E. (Creator) & Buchanan, A. H. (Creator), figshare, 2021
DOI: 10.6084/m9.figshare.c.5408249, https://springernature.figshare.com/collections/Application_of_a_framework_to_guide_genetic_testing_communication_across_clinical_indications/5408249
Dataset
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Additional file 2 of Application of a framework to guide genetic testing communication across clinical indications
Hallquist, M. L. G. (Creator), Tricou, E. P. (Creator), Ormond, K. E. (Creator), Savatt, J. M. (Creator), Coughlin, C. R. (Creator), Faucett, W. A. (Contributor), Hercher, L. (Creator), Levy, H. P. (Creator), O’Daniel, J. M. (Creator), Peay, H. L. (Creator), Stosic, M. (Creator), Smith, M. (Creator), Uhlmann, W. R. (Creator), Wand, H. (Creator), Wain, K. E. (Creator) & Buchanan, A. H. (Creator), figshare, 2021
DOI: 10.6084/m9.figshare.14516336, https://springernature.figshare.com/articles/dataset/Additional_file_2_of_Application_of_a_framework_to_guide_genetic_testing_communication_across_clinical_indications/14516336
Dataset
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Additional file 3 of Application of a framework to guide genetic testing communication across clinical indications
Hallquist, M. L. G. (Creator), Tricou, E. P. (Creator), Ormond, K. E. (Creator), Savatt, J. M. (Creator), Coughlin, C. R. (Creator), Faucett, W. A. (Contributor), Hercher, L. (Creator), Levy, H. P. (Creator), O’Daniel, J. M. (Creator), Peay, H. L. (Creator), Stosic, M. (Creator), Smith, M. (Creator), Uhlmann, W. R. (Creator), Wand, H. (Creator), Wain, K. E. (Creator) & Buchanan, A. H. (Creator), figshare, 2021
DOI: 10.6084/m9.figshare.14516339, https://springernature.figshare.com/articles/dataset/Additional_file_3_of_Application_of_a_framework_to_guide_genetic_testing_communication_across_clinical_indications/14516339
Dataset