SynthesisJournal of clinical oncology : official journal of the American Society of Clinical Oncology2022
Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis.
Synthesis in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 2 of them syntheses that pooled it.
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
86 citing papers in PubMed, 2 syntheses or guidelines pooled it, 127 citations in OpenAlex.
- Chatbot Artificial Intelligence for Genetic Cancer Risk Assessment and Counseling: A Systematic Review and Meta-Analysis.JCO clinical cancer informatics · 2023Pooled it
- Patient perspectives on risk-reducing salpingectomy with delayed oophorectomy for ovarian cancer risk-reduction: A systematic review of the literature.Gynecologic oncology · 2023Pooled it
- A Multilevel Intervention to Identify Individuals for Genetic Testing and Treatment: The IGNITE-TX Pilot Randomized Clinical Trial.JAMA network open · 2026Trial
- 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
- 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
- Streamlined Genetic Education and Cascade Testing in Men from Hereditary Breast Ovarian Cancer Families: A Randomized Trial.Public health genomics · 2024Trial
- Laboratory diagnostics in personalised medicine - 36th Symposium of the Croatian society of medical biochemistry and laboratory medicine.Biochemia medica · 2026Review
- Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis.Journal of human immunity · 2026Review
- Lights genes action: Video strategy forGynecologic oncology reports · 2026Article
- Evaluation of Costs, Efficiency and Performance of a Pilot Genetic Testing Traceback Program for Ovarian Cancer.Cancers · 2026Article
- Communication With Clinicians and Relatives About Cascade Genetic Testing in Cancer Patients With Germline Pathogenic Variants.JCO precision oncology · 2026Article
- When Covering and Discovering Are at Odds: How the Logic of US Health Insurance Undercuts the Promise and Equity of Precision Medicine for People with Hereditary Cancer Risks.Journal of health politics, policy and law · 2026Article
- Navigating the healthcare system with aGynecologic oncology reports · 2026Article
- Public attitudes toward cascade genetic screening in the United States.Health affairs scholar · 2026Article
- Learning about the genetic risk in my family: Preferences of Italian nurses.Journal of community genetics · 2026Article
- A paradigm shift in genetic predisposition to colorectal cancer: the impact of germline multigene panel testing on diagnosis and management.International journal of clinical oncology · 2026Review
- Importance of genetic testing in childhood cancer survivors for hereditary cancer predisposition syndromes.Hereditary cancer in clinical practice · 2026Article
- Quality and Safety Imperatives in the Identification and Management of Hereditary Cancer Syndromes.Seminars in oncology nursing · 2026Review
- Blueprint for building a patient-centered hereditary cancer program based on stakeholder perspectives.Gynecologic oncology reports · 2026Article
- Cancer history and cancer risk communication among Arab-American families: Perspectives of young Arab-Americans in Michigan.Journal of genetic counseling · 2026Article
26 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 5 institutions in 1 country.
Funding
Abstract
purposeEvidence-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
methodsWe 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.
resultsEighty-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]
conclusionMost 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.