Do people with hereditary cancer syndromes inform their at-risk relatives? A systematic review and meta-analysis
To evaluate rates of familial disclosure of hereditary cancer syndrome information. 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 syndrom...
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| Vydáno v: | PEC innovation Ročník 2; s. 100138 |
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| Hlavní autoři: | , , , , , , , , , , , , , , , , |
| Médium: | Journal Article |
| Jazyk: | angličtina |
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Netherlands
Elsevier B.V
01.12.2023
Elsevier |
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| ISSN: | 2772-6282, 2772-6282 |
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| Abstract | To evaluate rates of familial disclosure of hereditary cancer syndrome information.
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.
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%]).
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.
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.
•30% relatives are unaware of their risk of having a cancer associated pathogenic variant.•Female relatives and first-degree relatives are more likely to be informed.•Among those aware of their risk, only 43% complete genetic testing. |
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| AbstractList | To evaluate rates of familial disclosure of hereditary cancer syndrome information.
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.
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%]).
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.
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.
•30% relatives are unaware of their risk of having a cancer associated pathogenic variant.•Female relatives and first-degree relatives are more likely to be informed.•Among those aware of their risk, only 43% complete genetic testing. 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. To evaluate rates of familial disclosure of hereditary cancer syndrome information.PurposeTo evaluate rates of familial disclosure of hereditary cancer syndrome information.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.MethodsA 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.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%]).ResultsThirty-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%]).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.ConclusionNearly 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.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.InnovationFive 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. To evaluate rates of familial disclosure of hereditary cancer syndrome information. 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. 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%]). 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. 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. |
| ArticleNumber | 100138 |
| Author | Ahsan, Muhammad Danyal Levi, Sarah R. Webster, Emily M. Cantillo, Evelyn Lin, Jenny Chapman-Davis, Eloise Frey, Melissa K. Christos, Paul J. Bergeron, Hannah Nelson, Becky Baltich Narayan, Priyanka Li, Xuan Brewer, Jesse T. Fowlkes, Rana K. Holcomb, Kevin Sharaf, Ravi N. Thomas, Charlene |
| Author_xml | – sequence: 1 givenname: Muhammad Danyal surname: Ahsan fullname: Ahsan, Muhammad Danyal email: mua2023@qatar-med.cornell.edu – sequence: 2 givenname: Sarah R. surname: Levi fullname: Levi, Sarah R. – sequence: 3 givenname: Emily M. surname: Webster fullname: Webster, Emily M. – sequence: 4 givenname: Hannah surname: Bergeron fullname: Bergeron, Hannah – sequence: 5 givenname: Jenny surname: Lin fullname: Lin, Jenny – sequence: 6 givenname: Priyanka surname: Narayan fullname: Narayan, Priyanka – sequence: 7 givenname: Becky Baltich surname: Nelson fullname: Nelson, Becky Baltich – sequence: 8 givenname: Xuan surname: Li fullname: Li, Xuan – sequence: 9 givenname: Rana K. surname: Fowlkes fullname: Fowlkes, Rana K. – sequence: 10 givenname: Jesse T. surname: Brewer fullname: Brewer, Jesse T. – sequence: 11 givenname: Charlene surname: Thomas fullname: Thomas, Charlene – sequence: 12 givenname: Paul J. surname: Christos fullname: Christos, Paul J. – sequence: 13 givenname: Eloise surname: Chapman-Davis fullname: Chapman-Davis, Eloise – sequence: 14 givenname: Evelyn surname: Cantillo fullname: Cantillo, Evelyn – sequence: 15 givenname: Kevin surname: Holcomb fullname: Holcomb, Kevin – sequence: 16 givenname: Ravi N. surname: Sharaf fullname: Sharaf, Ravi N. – sequence: 17 givenname: Melissa K. surname: Frey fullname: Frey, Melissa K. |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/37214514$$D View this record in MEDLINE/PubMed |
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| CitedBy_id | crossref_primary_10_1016_j_pecinn_2023_100126 crossref_primary_10_1016_j_ygyno_2024_09_001 crossref_primary_10_1038_s41431_025_01922_w crossref_primary_10_1002_pon_9312 crossref_primary_10_1007_s41096_024_00200_0 crossref_primary_10_1097_GRF_0000000000000895 crossref_primary_10_1080_10410236_2025_2475565 crossref_primary_10_1007_s10689_023_00356_x crossref_primary_10_20344_amp_22204 crossref_primary_10_1038_s41431_024_01544_8 crossref_primary_10_1002_jgc4_70067 crossref_primary_10_1038_s41431_024_01551_9 crossref_primary_10_1186_s12885_025_13744_6 crossref_primary_10_1016_j_ejmg_2025_105007 crossref_primary_10_12688_openreseurope_19128_1 crossref_primary_10_1007_s10689_024_00430_y crossref_primary_10_1038_s41431_024_01605_y crossref_primary_10_1159_000545404 crossref_primary_10_1016_j_ejmg_2024_104931 crossref_primary_10_1016_j_pec_2024_108319 crossref_primary_10_1016_j_cgh_2025_01_007 crossref_primary_10_1200_GO_24_00068 crossref_primary_10_2196_73391 crossref_primary_10_1159_000540680 |
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| Keywords | Cascade genetic testing Hereditary cancer syndromes Disclosure Hereditary breast and ovarian cancer Lynch syndrome |
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| Snippet | To evaluate rates of familial disclosure of hereditary cancer syndrome information.
A systematic review and meta-analysis was conducted in accordance with... To evaluate rates of familial disclosure of hereditary cancer syndrome information.PurposeTo evaluate rates of familial disclosure of hereditary cancer... Purpose: To evaluate rates of familial disclosure of hereditary cancer syndrome information. Methods: A systematic review and meta-analysis was conducted in... |
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| SubjectTerms | Cascade genetic testing Disclosure Hereditary breast and ovarian cancer Hereditary cancer syndromes Lynch syndrome |
| Title | Do people with hereditary cancer syndromes inform their at-risk relatives? A systematic review and meta-analysis |
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