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. 2023 Feb 17:2:100138.
doi: 10.1016/j.pecinn.2023.100138. eCollection 2023 Dec.

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

Muhammad Danyal Ahsan  1 , Sarah R Levi  1 , Emily M Webster  1 , Hannah Bergeron  1 , Jenny Lin  1 , Priyanka Narayan  1 , Becky Baltich Nelson  1 , Xuan Li  1 , Rana K Fowlkes  1 , Jesse T Brewer  1 , Charlene Thomas  1 , Paul J Christos  1 , Eloise Chapman-Davis  1 , Evelyn Cantillo  1 , Kevin Holcomb  1 , Ravi N Sharaf  1 , Melissa K Frey  1
Affiliations

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

Muhammad Danyal Ahsan et al. PEC Innov. .

Abstract

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.

Keywords: Cascade genetic testing; Disclosure; Hereditary breast and ovarian cancer; Hereditary cancer syndromes; Lynch syndrome.

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Conflict of interest statement

Kevin Holcomb reports a relationship with Johnson & Johnson that includes: consulting or advisory.

Figures

Fig. 1
Fig. 1
PRISMA Flow Diagram.
Fig. 2
Fig. 2
Pooled proportion of probands who informed at least 1 at-risk relative.
Fig. 3
Fig. 3
Pooled proportion of at-risk relatives who were informed.
Fig. 4
Fig. 4
Pooled proportion of at-risk relatives who completed genetic testing among those informed.
Supplementary Fig. 1
Supplementary Fig. 1
Funnel plot for pooled proportion of probands who Informed at least 1 at-risk relative
Supplementary Fig. 2
Supplementary Fig. 2
Funnel plot for pooled proportion of at-risk relatives who were informed
Supplementary Fig. 3
Supplementary Fig. 3
Funnel plot for pooled proportion of at-risk relatives who completed genetic testing among those informed
See this image and copyright information in PMC

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