Cascade genetic testing for hereditary cancer syndromes: A review of barriers and breakthroughs Review

  


Authors: Levine, R.; Kahn, R. M.; Perez, L.; Brewer, J.; Ratner, S.; Li, X.; Yeoshoua, E.; Frey, M. K.
Review Title: Cascade genetic testing for hereditary cancer syndromes: A review of barriers and breakthroughs
Abstract: 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. © The Author(s), under exclusive licence to Springer Nature B.V. 2024.
Keywords: sequence analysis; genetics; review; genetic predisposition to disease; diagnosis; psychosocial care; health care system; community; risk reduction; genetic predisposition; genetic screening; germ-line mutation; health care access; genetic testing; relative; genetic counseling; neoplastic syndromes, hereditary; germline mutation; procedures; preventive health service; genetic discrimination; disease burden; humans; human; hereditary tumor syndrome; cascade genetic testing; hereditary cancer syndromes; predictive testing
Journal Title: Familial Cancer
Volume: 23
Issue: 2
ISSN: 1389-9600
Publisher: Springer  
Date Published: 2024-06-01
Start Page: 111
End Page: 120
Language: English
DOI: 10.1007/s10689-024-00373-4
PUBMED: 38530571
PROVIDER: scopus
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85188593644&doi=10.1007%2fs10689-024-00373-4&partnerID=40&md5=b24d4bfe29f5934b38d31099227a150c
Notes: Review -- Source: Scopus
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MSK Authors
  1. Ryan Matthew Kahn
    41 Kahn
  2. Effi Yeoshoua
    13 Yeoshoua
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