SynthesisEuropean journal of human genetics : EJHG2020
Barriers and facilitators for cascade testing in genetic conditions: a systematic review.
Synthesis in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
94 citing papers in PubMed, 2 syntheses or guidelines pooled it, 148 citations in OpenAlex.
- Public perspectives on healthcare professional-directed communication of hereditary genetic risks: a mixed-method systematic review.European journal of human genetics : EJHG · 2026Pooled it
- Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review.Frontiers in genetics · 2022Pooled it
- Genetic Cascade Screening for Familial Hypercholesterolemia: A 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
- Predictors and Interdependence of Quality of Life in a Random Sample of Long-Term Young Breast Cancer Survivors and Their Biological Relatives.Cancer medicine · 2024Trial
- Testing a Population-Based Outreach Intervention for Ovarian Cancer Survivors to Encourage their Close Relatives to Consider Genetic Counseling.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2024Trial
- Trial
- 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
- Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement.Nature reviews. Endocrinology · 2026Review
- Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences.European journal of human genetics : EJHG · 2026Article
- Factors contributing to the underdiagnosis of hereditary transthyretin amyloidosis (hATTR) in Black patients.Journal of community genetics · 2026Article
- Differences in Cascade Genetic Testing Among Families With Hereditary Cancer Risk.JAMA network open · 2026Article
- Public attitudes toward cascade genetic screening in the United States.Health affairs scholar · 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
- Digital genetic counseling services for cascade cardiogenetic testing.Journal of genetic counseling · 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
- Cascade testing as the missing link in cancer prevention among Lynch syndrome families.Familial cancer · 2026Article
- Patients' and family members' experiences with cascade testing for Lynch syndrome in the USA: a qualitative interview study.Journal of community genetics · 2026Article
- Cascade Chatbot: A Scalable Approach to Family-Based Genetic Testing for Hereditary Cancer Syndromes.JCO clinical cancer informatics · 2026Article
- FH Genetic Testing in Preventive Cardiology: Unpacking Challenges and Enablers Beyond Cost.BMC health services research · 2026Article
34 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
5 authors at 3 institutions in 1 country.
Funding
Abstract
Cascade testing is the process of offering genetic counseling and testing to at-risk relatives of an individual who has been diagnosed with a genetic condition. It is critical for increasing the identification rates of individuals with these conditions and the uptake of appropriate preventive health services. The process of cascade testing is highly varied in clinical practice, and a comprehensive understanding of factors that hinder or enhance its implementation is necessary to improve this process. We conducted a systematic review to identify barriers and facilitators for cascade testing and searched PubMed, CINAHL via EBSCO, Web of Science, EMBASE, and the Cochrane Library for articles published from the databases' inception to November 2018. Thirty articles met inclusion criteria. Barriers and facilitators identified from these studies at the individual-level were organized into the following categories: (1) demographics, (2) knowledge, (3) attitudes, beliefs, and emotional responses of the individual, and (4) perceptions of relatives, relatives' responses, and attitudes toward relatives. At the interpersonal-level, barriers and facilitators were categorized as (1) family communication-, support- and dynamics-, and (2) provider-factors. Finally, barriers at the environmental-level relating to accessibility of genetic services were also identified. Our findings suggest that several individual, interpersonal and environmental factors may play a role in cascade testing. Future studies to further investigate these barriers and facilitators are needed to inform future interventions for improving the implementation of cascade testing for genetic conditions in clinical practice.
Indexed as
Identifiers
What OpenQuestion holds
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.