ArticleJournal of genetic counseling2015
Aligning policy to promote cascade genetic screening for prevention and early diagnosis of heritable diseases.
Article in Journal of genetic counseling, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.
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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
56 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A systematic review of theory-informed strategies used in interventions fostering family genetic risk communication.Patient education and counseling · 2022Pooled it
- The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice.Familial cancer · 2019Pooled it
- Social vulnerability and genetic service utilization among unaffected BRIDGE trial patients with inherited cancer susceptibility.BMC cancer · 2025Trial
- Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study.Cancer prevention research (Philadelphia, Pa.) · 2021Trial
- Comparing models of delivery for cancer genetics services among patients receiving primary care who meet criteria for genetic evaluation in two healthcare systems: BRIDGE randomized controlled trial.BMC health services research · 2021Trial
- Facilitated cascade testing (FaCT): a randomized controlled trial.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2021Trial
- The Genetic Education for Men (GEM) Trial: Development of Web-Based Education for Untested Men in BRCA1/2-Positive Families.Journal of cancer education : the official journal of the American Association for Cancer Education · 2021Trial
- The 2025 WAO Guidelines for the classification, diagnosis, and treatment of hereditary angioedema, with consideration of worldwide disparities.The World Allergy Organization journal · 2026Article
- Article
- Patients' perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent).European journal of human genetics : EJHG · 2025Article
- Health professionals contacting patients' relatives directly about genetic risk (with patient consent): current clinical practice and perspectives.European journal of human genetics : EJHG · 2025Article
- Factors Impacting Intent to Share Multigenic Cancer Testing Results in a Community Hospital Setting.Journal of personalized medicine · 2024Article
- Innovative Implementation Strategies for Familial Hypercholesterolemia Cascade Testing: The Impact of Genetic Counseling.Journal of personalized medicine · 2024Article
- Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review.NPJ genomic medicine · 2024Article
- Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public.European journal of human genetics : EJHG · 2024Article
- Childhood Screening for Familial Hypercholesterolemia: JACC Review Topic of the Week.Journal of the American College of Cardiology · 2023Review
- Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam.Familial cancer · 2023Article
- The cascade screening in heritable forms of pulmonary arterial hypertension.Pulmonary circulation · 2023Article
- Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing.Familial cancer · 2023Article
- Privacy Implications of Contacting the At-Risk Relatives of Patients with Medically Actionable Genetic Predisposition, with Patient Consent: A Hypothetical Australian Case Study.Biotech (Basel (Switzerland)) · 2023Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
Cascade genetic screening is a methodology for identifying and testing close blood relatives of individuals at increased risk for heritable conditions and follows a sequential process, minimizing testing costs and the number of family members who need to be tested. It offers considerable potential for cost savings and increased awareness of heritable conditions within families. CDC-classified Tier 1 genomic applications for hereditary breast and ovarian cancer syndrome (HBOC), Lynch Syndrome (LS), and familial hypercholesterolemia (FH) are recommended for clinical use and support the use of cascade genetic screening. Most individuals are unaware of their increased risk for heritable conditions such as HBOC, LS, and FH. Consistent implementation of cascade genetic screening could significantly increase awareness and prevention of heritable conditions. Limitations to effective implementation of cascade genetic screening include: insufficient genetic risk assessment and knowledge by a majority of healthcare providers without genetics credentials; a shortage of genetic specialists, especially in rural areas; a low rate of reimbursement for comprehensive genetic counseling services; and an individual focus on prevention by clinical guidelines and insurance coverage. The family-centric approach of cascade genetic screening improves prevention and early diagnosis of heritable diseases on a population health level. Cascade genetic screening could be better supported and augmented through changes in health policy.
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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.