ArticleFrontiers in genetics2022
The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Approaches to Incorporation of Preferences into Health Economic Models of Genomic Medicine: A Critical Interpretive Synthesis and Conceptual Framework.Applied health economics and health policy · 2025Pooled it
- Laboratory diagnostics in personalised medicine - 36th Symposium of the Croatian society of medical biochemistry and laboratory medicine.Biochemia medica · 2026Review
- Public attitudes toward cascade genetic screening in the United States.Health affairs scholar · 2026Article
- Differences in Cascade Genetic Testing Among Families With Hereditary Cancer Risk.JAMA network open · 2026Article
- Familial Disclosure and Cascade Testing in High-Risk Families is Influenced by Gene Variant Penetrance: Implications for Family based Breast Cancer Prevention.Research square · 2026Article
- A survey of factors influencing the intention to undergo genetic testing in patients with cardiovascular disease in Japan.Journal of genetic counseling · 2026Article
- Facilitators and Barriers to Uptake of Genetic and Cascade Testing in Familial Hypercholesterolemia: a Systematic Review.International journal of behavioral medicine · 2026Article
- Cascade counselling and testing. Recommendations of the European Society of Human Genetics.European journal of human genetics : EJHG · 2026Article
- Parental Communication With their Children about Cancer Risk and DTC Cascade Genetic Testing: Implications for Genetic Education and Counseling.American journal of medical genetics. Part A · 2025Article
- Detecting likely germline variants during tumor-based molecular profiling.The Journal of clinical investigation · 2025Review
- Observational
- Impact of the American Society of Breast Surgeons' Guidelines on Genetic Testing and Contralateral Prophylactic Mastectomy Rates.Annals of surgical oncology · 2025Article
- [Pathogenic large duplication in TP53 as a hereditary predisposing factor in breast cancer].Magyar onkologia · 2025Article
- Yield of family screening for dilated cardiomyopathy: 10-year experience at a multidisciplinary cardiogenetic outpatient clinic.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2025Article
- Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.NPJ genomic medicine · 2025Article
- Editorial: A year in review: discussions in human and medical genomics.Frontiers in genetics · 2025Article
- Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework.Familial cancer · 2024Article
- Commentary: Why is genetic testing underutilized worldwide? The case for hereditary breast cancer.BJC reports · 2024Review
- Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives.Journal of the National Cancer Institute · 2024Article
- The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?International journal of molecular sciences · 2024Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although multiple factors can influence the uptake of cascade genetic testing, the impact of proband indication has not been studied. We performed a retrospective, cross-sectional study comparing cascade genetic testing rates among relatives of probands who received either diagnostic germline testing or non-indication-based proactive screening via next-generation sequencing (NGS)-based multigene panels for hereditary cancer syndromes (HCS) and/or familial hypercholesterolemia (FH). The proportion of probands with a medically actionable (positive) finding were calculated based on genes associated with Centers for Disease Control and Prevention (CDC) Tier 1 conditions, HCS genes, and FH genes. Among probands with a positive finding, cascade testing rates and influencing factors were assessed. A total of 270,715 probands were eligible for inclusion in the study (diagnostic
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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.