Do people with hereditary cancer syndromes inform their at-risk relatives? A systematic review and meta-analysis

被引：20

作者：

Ahsan, Muhammad Danyal ^{[1
]}

Levi, Sarah R. ^{[1
]}

Webster, Emily M. ^{[1
]}

Bergeron, Hannah ^{[1
]}

Lin, Jenny ^{[1
]}

Narayan, Priyanka ^{[1
]}

Nelson, Becky Baltich ^{[1
]}

Li, Xuan ^{[1
]}

Fowlkes, Rana K. ^{[1
]}

Brewer, Jesse T. ^{[1
]}

Thomas, Charlene ^{[1
]}

Christos, Paul J. ^{[1
]}

Chapman-Davis, Eloise ^{[1
]}

Cantillo, Evelyn ^{[1
]}

Holcomb, Kevin ^{[1
]}

Sharaf, Ravi N. ^{[1
]}

Frey, Melissa K. ^{[1
]}

机构：

[1] Weill Cornell Med, New York, NY USA

来源：

PEC INNOVATION | 2023年 / 2卷

关键词：

Disclosure; Cascade genetic testing; Hereditary cancer syndromes; Lynch syndrome; Hereditary breast and ovarian cancer; LYNCH-SYNDROME; FAMILY COMMUNICATION; GENETIC INFORMATION; MUTATION CARRIERS; BRCA1; DISSEMINATION; POPULATION; DISCLOSURE;

D O I：

10.1016/j.pecinn.2023.100138

中图分类号：

R19 [保健组织与事业（卫生事业管理）];

学科分类号：

摘要：

Purpose: To evaluate rates of familial disclosure of hereditary cancer syndrome information. Methods: A systematic review and meta-analysis was conducted in accordance with PRISMA guidelines (PROSPERO no.: CRD42020134276). Key electronic databases were searched to identify studies evaluating hereditary cancer syndrome cascade relative disclosure. Eligible studies were subjected to meta-analysis. Results: Thirty-four studies met inclusion criteria. Among 11,711 included relatives, 70% (95% CI 60 - 78%) were informed of their risk of carrying a cancer-associated pathogenic variant; of 2,875 relatives informed of their risk who were evaluated for uptake of cascade testing, 43% (95% CI 27 - 61%) completed testing. Rates of disclosure were higher among female vs male relatives (79% [95% CI 73% - 84%] vs 67% [95% CI 57% - 75%]) and first-degree vs second-degree relatives (83% [95% CI 77% - 88%] vs 58% [95% CI 45 - 69%]). Conclusion: Nearly one-third of at-risk relatives remain uninformed of their risk of carrying a cancer-associated pathogenic variant. Even among those informed, fewer than half subsequently complete genetic testing, representing a critical missed opportunity for precision cancer prevention. Innovation: Five studies evaluating interventions to improve disclosure rates were generally ineffective. Urgent work is needed to elucidate barriers to relative disclosure by probands to develop targeted interventions that can optimize proband-mediated cascade genetic testing rates.

引用

页数：10

共 53 条

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