Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis
Authors
Frey, Melissa KAhsan, Muhammad Danyal
Bergeron, Hannah
Lin, Jenny
Li, Xuan
Fowlkes, Rana K
Narayan, Priyanka
Nitecki, Roni
Rauh-Hain, Jose Alejandro
Moss, Haley A
Baltich Nelson, Becky
Thomas, Charlene
Christos, Paul J
Hamilton, Jada G
Chapman-Davis, Eloise
Cantillo, Evelyn
Holcomb, Kevin
Kurian, Allison W
Lipkin, Steven
Offit, Kenneth
Sharaf, Ravi N
UMass Chan Affiliations
Lamar Soutter LibraryDocument Type
Journal ArticlePublication Date
2022-08-12
Metadata
Show full item recordAbstract
Purpose: Evidence-based guidelines recommend cascade genetic counseling and testing for hereditary cancer syndromes, providing relatives the opportunity for early detection and prevention of cancer. The current standard is for patients to contact and encourage relatives (patient-mediated contact) to undergo counseling and testing. Direct relative contact by the medical team or testing laboratory has shown promise but is complicated by privacy laws and lack of infrastructure. We sought to compare outcomes associated with patient-mediated and direct relative contact for hereditary cancer cascade genetic counseling and testing in the first meta-analysis on this topic. Materials and methods: We conducted a systematic review and meta-analysis in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines (PROSPERO No.: CRD42020134276). We searched key electronic databases to identify studies evaluating hereditary cancer cascade testing. Eligible trials were subjected to meta-analysis. Results: Eighty-seven studies met inclusion criteria. Among relatives included in the meta-analysis, 48% (95% CI, 38 to 58) underwent cascade genetic counseling and 41% (95% CI, 34 to 48) cascade genetic testing. Compared with the patient-mediated approach, direct relative contact resulted in significantly higher uptake of genetic counseling for all relatives (63% [95% CI, 49 to 75] v 35% [95% CI, 24 to 48]) and genetic testing for first-degree relatives (62% [95% CI, 49 to 73] v 40% [95% CI, 32 to 48]). Methods of direct contact included telephone calls, letters, and e-mails; respective rates of genetic testing completion were 61% (95% CI, 51 to 70), 48% (95% CI, 37 to 59), and 48% (95% CI, 45 to 50). Conclusion: Most relatives at risk for hereditary cancer do not undergo cascade genetic counseling and testing, forgoing potentially life-saving medical interventions. Compared with patient-mediated contact, direct relative contact increased rates of cascade genetic counseling and testing, arguing for a shift in the care delivery paradigm, to be confirmed by randomized controlled trials.Source
Frey MK, Ahsan MD, Bergeron H, Lin J, Li X, Fowlkes RK, Narayan P, Nitecki R, Rauh-Hain JA, Moss HA, Baltich Nelson B, Thomas C, Christos PJ, Hamilton JG, Chapman-Davis E, Cantillo E, Holcomb K, Kurian AW, Lipkin S, Offit K, Sharaf RN. Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis. J Clin Oncol. 2022 Dec 10;40(35):4129-4143. doi: 10.1200/JCO.22.00303. Epub 2022 Aug 12. PMID: 35960887; PMCID: PMC9746789.DOI
10.1200/JCO.22.00303Permanent Link to this Item
http://hdl.handle.net/20.500.14038/51485PubMed ID
35960887ae974a485f413a2113503eed53cd6c53
10.1200/JCO.22.00303