ArticlePEC innovation2023
Do people with hereditary cancer syndromes inform their at-risk relatives? A systematic review and meta-analysis.
Article in PEC innovation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 32 citations in OpenAlex.
- Direct letters to relatives at risk of hereditary cancer-a randomised trial on healthcare-assisted versus family-mediated risk disclosure.European journal of human genetics : EJHG · 2025Trial
- Bridging Technology and Pretest Genetic Services: Quantitative Study of Chatbot Interaction Patterns, User Characteristics, and Genetic Testing Decisions.Journal of medical Internet research · 2025Trial
- Patients' perceptions and practices of informing relatives: a qualitative study within a randomised trial on healthcare-assisted risk disclosure.European journal of human genetics : EJHG · 2024Trial
- Communication With Clinicians and Relatives About Cascade Genetic Testing in Cancer Patients With Germline Pathogenic Variants.JCO precision oncology · 2026Article
- Perception of Family Genetic Testing for Hereditary Breast and Ovarian Cancer: A Survey of Patients and General Public.Journal of Korean medical science · 2026Article
- Cascade counselling and testing. Recommendations of the European Society of Human Genetics.European journal of human genetics : EJHG · 2026Article
- Awareness, uptake, and determinants of germline genetic testing in Chinese epithelial ovarian cancer patients: a cross-sectional study.Frontiers in oncology · 2026Article
- Survivors' Responses to an Online Intervention to Promote Discussions of Cancer Genetic Risk with Blood Relatives.Public health genomics · 2026Article
- Bridging Andrology and Oncology: Prognostic Indicators of Cancer Among Infertile Men.Current issues in molecular biology · 2025Review
- Cost-Effectiveness of Lynch Syndrome Identification Strategies in Individuals With Colorectal Cancer and the Impact on At-Risk Relatives.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2025Article
- Addressing family communication in genetic counseling: A scoping review of process studies.Journal of genetic counseling · 2025Article
- The Genetic Information and Family Testing (GIFT) study: trial design and protocol.BMC cancer · 2025Article
- Health System-Led Early Consent and Direct Contact of At-Risk Relatives: Pilot Study Results.Public health genomics · 2025Article
- Genomic findings with familial implications: agenda setting in light of mainstreaming.Open research Europe · 2025Article
- Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework.Familial cancer · 2024Article
- Liminality between direct and family-mediated contact in the communication of genetic information to at-risk relatives.European journal of human genetics : EJHG · 2024Article
- The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer.European journal of human genetics : EJHG · 2024Article
- Communication in genomic and precision medicine: Editorial -PEC innovation · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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