ArticleFamilial cancer2019
Physician interpretation of variants of uncertain significance.
Article in Familial cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta-analysis.Clinical genetics · 2021Pooled it
- Healthcare experiences and the cycle of genomic healthcare disparities: A cross-sectional study utilizing the 'All of Us' research program.Journal of community genetics · 2026Article
- Impact of variants of uncertain significance on decision making about genetic testing for Hispanic males.Genetics in medicine open · 2026Article
- Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance.European journal of human genetics : EJHG · 2025Article
- Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician's perspective.Journal of human genetics · 2025Article
- Universal Genetic Counseling and Testing for Black Women: A Risk-Stratified Approach to Addressing Breast Cancer Disparities.Clinical breast cancer · 2025Review
- Genetic counselors' and community clinicians' implementation and perceived barriers to informed consent during pre-test counseling for hereditary cancer risk.Journal of genetic counseling · 2025Article
- Reclassification of variants of uncertain significance by race, ethnicity, and ancestry for patients at risk for breast cancer.Frontiers in oncology · 2025Article
- Article
- Exploring Genetic Testing for Rare Disorders of Obesity: Experience and Perspectives of Pediatric Weight Management Providers.Childhood obesity (Print) · 2024Article
- Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022.JCO precision oncology · 2024Article
- The Development and Evaluation of Novel Patient Educational Material for a Variant of Uncertain Significance (VUS) Result in Hereditary Cancer Genes.Current oncology (Toronto, Ont.) · 2024Article
- Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significance.Journal of medical ethics · 2024Article
- Reflections on my international genetic counseling rotations: Contrasts in practice between India and the United States.Genetics in medicine open · 2024Article
- Variant reclassification and recontact research: A scoping review.Genetics in medicine open · 2024Article
- Review
- Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.JAMA network open · 2023Article
- Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce.BMC medical education · 2023Article
- Case Report: Characterization of known (c.607G>C) and novel (c.416C>G)Frontiers in immunology · 2023Article
- Toward a More Just System of Care in Molecular Pathology.The Milbank quarterly · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A growing number of physicians will interact with genetic test results as testing becomes more commonplace. While variants of uncertain significance can complicate results, it is equally important that physicians understand how to incorporate these results into clinical care. An online survey was created to assess physician self-reported comfort level with genetics and variants of uncertain significance. Physicians were asked to respond to three case examples involving genetic test results. The survey was sent to 488 physicians at Mayo Clinic FL on 8/16/2017. Physicians from all specialties were invited to participate. A total of 92 physicians responded to the survey. Only 13/84 (14.6%) responded to all three case examples with the answer deemed "most correct" by review of literature. Physicians that specialized in cancer were more likely to answer questions appropriately (P = .02). Around half (39/84) of the physicians incorrectly defined a variant of uncertain significance (VUS). Over 75% made a recommendation for genetic testing that was not warranted. Many physicians have never received formal genetics training; however, they will be expected to provide an accurate explanation of the genetic test results and subsequent evidence-based medical management recommendations. These results demonstrate that a substantial proportion of physicians lack a true understanding of the implications a VUS. Utilization of supplemental genetics training programs coupled with increase awareness of genetic services may help to improve patient care.
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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.