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Review
. 2024 Jun;23(2):111-120.
doi: 10.1007/s10689-024-00373-4. Epub 2024 Mar 26.

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

Rachel Levine  1 , Ryan M Kahn  2 , Luiza Perez  3 , Jesse Brewer  3 , Samantha Ratner  3 , Xuan Li  3 , Effi Yeoshoua  2 , Melissa K Frey  3   4
Affiliations
Review

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

Rachel Levine et al. Fam Cancer. 2024 Jun.

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.

Keywords: Cascade genetic testing; Hereditary cancer syndromes; Predictive testing.

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References

Bibliography

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