Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs.

Autor: Levine R; Department of Obstetrics and Gynecology, HCA Florida Brandon, Brandon, FL, USA. rachel.levine@hcahealthcare.com., Kahn RM; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Perez L; Division of Gynecologic Oncology, Weill Cornell Medicine, New York, NY, USA., Brewer J; Division of Gynecologic Oncology, Weill Cornell Medicine, New York, NY, USA., Ratner S; Division of Gynecologic Oncology, Weill Cornell Medicine, New York, NY, USA., Li X; Division of Gynecologic Oncology, Weill Cornell Medicine, New York, NY, USA., Yeoshoua E; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Frey MK; Division of Gynecologic Oncology, Weill Cornell Medicine, New York, NY, USA.; Genetics and Personalized Cancer Prevention Program, Weill Cornell Medicine, New York, NY, USA.
Jazyk: angličtina
Zdroj: Familial cancer [Fam Cancer] 2024 Jun; Vol. 23 (2), pp. 111-120. Date of Electronic Publication: 2024 Mar 26.
DOI: 10.1007/s10689-024-00373-4
Abstrakt: Germline genetic sequencing is now at the forefront of cancer treatment and preventative medicine. Cascade genetic testing, or the testing of at-risk relatives, is extremely promising as it offers genetic testing and potentially life-saving risk-reduction strategies to a population exponentially enriched for the risk of carrying a cancer-associated pathogenic variant. However, many relatives do not complete cascade testing due to barriers that span individual, relationship, healthcare community, and societal/policy domains. We have reviewed the published research on cascade testing. Our aim is to evaluate barriers to cascade genetic testing for hereditary cancer syndromes and explore strategies to mitigate these barriers, with the goal of promoting increased uptake of cascade genetic testing.
(© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)
Databáze: MEDLINE
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