ReviewBJC reports2024
Commentary: Why is genetic testing underutilized worldwide? The case for hereditary breast cancer.
Review in BJC reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis 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
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Secondary findings in hereditary cancer genes after germline genetic testing - systematic review of literature.Human genetics · 2025Pooled it
- Prevalence of Rare Diseases in Consanguineous Marriages: A Case of Ullrich Muscular Dystrophy in a Resource-Limited Setting.Clinical case reports · 2026Article
- Needs, Challenges, and Opportunities for Genetic Counselors in Vietnam: A Qualitative Interview Study With Healthcare Leaders and Genetics Professionals.Journal of genetic counseling · 2026Article
- Hereditary cancer: Germline testing practices across ERN GENTURIS member countries.European journal of human genetics : EJHG · 2026Article
- Genetic Testing Uptake Among Patients With Newly Diagnosed Breast Cancer.JAMA network open · 2026Article
- MCM2 germline variants predispose to familial papillary thyroid carcinoma due to genomic instability caused by MCM complex disruption.Oncogene · 2026Article
- Article
- Assessing Willingness to Pay for Genetic Testing Among Adults: A Cross-Sectional Study Using Data from the Omnibus Survey 2022.Journal of personalized medicine · 2026Article
- Article
- Barriers and motivators for BRCA genetic testing in Japan.Journal of genetic counseling · 2026Article
- Hereditary cancer syndromes with gynecological cancer risk: focus on prevention strategies.Frontiers in oncology · 2026Review
- Assessment of local provider engagement of an in-home collaborative model for remote genetic services.Genetics in medicine open · 2026Article
- Article
- A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases.Molecular genetics & genomic medicine · 2025Review
- From tradition to transformation: evolving models of care in clinical genetics.Current opinion in pediatrics · 2025Review
- Leveraging Open-Source Large Language Models to Identify Undiagnosed Patients with Rare Genetic Aortopathies.medRxiv : the preprint server for health sciences · 2025Article
- Artificial intelligence-simplified information to advance reproductive genetic literacy and health equity.Human reproduction (Oxford, England) · 2025Observational
- Predicting the likelihood of carrying BRCA1 or BRCA2 pathogenic variants in high-risk Pakistani breast cancer patients.Breast cancer research and treatment · 2025Article
- A new approach for the detection of genetic alterations utilizing modified loop-mediated isothermal amplification reaction (LAMP).Scientific reports · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It is thirty years since the BRCA1 and BRCA2 genes were discovered and genetic testing for BRCA1 and BRCA2 was introduced. Despite increasing awareness of the genetic basis of cancer and our evolving knowledge of effective means of prevention, screening, and treatment for hereditary breast and ovarian cancers, genetic testing is underutilized, and most mutation carriers remain unidentified. In this commentary, we explore possible reasons for why this might be so. Our focus is on factors that may influence or deter a patient from pursuing testing, rather than discussing the implications of receiving a positive test result. Issues of concern include an inadequate number of genetic counselors, restrictive (and conflicting) eligibility criteria for testing, the cost of the test, health insurance coverage, fear of future insurance discrimination, privacy issues, lack of familiarity with the testing process in primary care and gaps in both patient and provider knowledge about the impact and the value of testing. We discuss how these factors may lead to the underutilization of genetic testing in North America and throughout the world and discuss alternative models of genetic healthcare delivery. We have invited leaders in cancer genetic from around the world to tell us what they think are the barriers to testing in their host countries.
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.