Barriers and facilitators for cascade testing in genetic conditions: a systematic review

Author:

Srinivasan SwethaORCID,Won Nae YeonORCID,Dotson W. DavidORCID,Wright Sarah T.ORCID,Roberts Megan C.ORCID

Funder

U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference49 articles.

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2. Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated With Cancer - ACOG [Internet]. [cited 2019 Dec 18]. https://www.acog.org/Clinical-Guidance-and-Publications/Committee-Opinions/Committee-on-Gynecologic-Practice/Cascade-Testing-Testing-Women-for-Known-Hereditary-Genetic-Mutations-Associated-With-Cancer.

3. Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, et al. Executive summary familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients clinical guidance from the national lipid association expert panel on familial hypercholesterolemia background and rationale. J Clin Lipidol. 2011;5:1–8.

4. Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, et al. Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle? J Clin Oncol. 2019;37:453–60.

5. Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, et al. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016;354:aaf7000.

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