ArticleGenetics in medicine : official journal of the American College of Medical Genetics2011
Genetic testing and cancer risk management recommendations by physicians for at-risk relatives.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 3 of them syntheses that pooled it.
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Who cites it
50 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- A theory-informed systematic review of clinicians' genetic testing practices.European journal of human genetics : EJHG · 2018Pooled it
- Primary care providers' cancer genetic testing-related knowledge, attitudes, and communication behaviors: A systematic review and research agenda.Journal of general internal medicine · 2017Pooled it
- Ethnic background and genetic variation in the evaluation of cancer risk: a systematic review.PloS one · 2014Pooled it
- An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank.European journal of medical genetics · 2025Trial
- A randomized study of digital versus genetic counselor return of actionable genetic research results to biobank participants (RESPECT3 study).BMC medical ethics · 2026Article
- Variants of uncertain significance in precision oncology: nuance or nuisance?The oncologist · 2024Article
- Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy.Familial cancer · 2024Review
- Identification of individuals at high-risk for pancreatic cancer using a digital patient-input tool combining family cancer history screening and new-onset diabetes.Preventive medicine reports · 2023Article
- Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.BMC medical genomics · 2023Review
- Physicians' experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece.Familial cancer · 2022Article
- The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review.Annals of internal medicine · 2022Review
- Practical Considerations and Challenges for Germline Genetic Testing in Patients With Prostate Cancer: Recommendations From the Germline Genetics Working Group of the PCCTC.JCO oncology practice · 2020Review
- An ethical framework for genetic counseling in the genomic era.Journal of genetic counseling · 2020Article
- Integrating Germline Genetics Into Precision Oncology Practice in the Veterans Health Administration: Challenges and Opportunities.Federal practitioner : for the health care professionals of the VA, DoD, and PHS · 2020Article
- BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.Human mutation · 2018Article
- Genetic Counselors' Perspectives About Cell-Free DNA: Experiences, Challenges, and Expectations for Obstetricians.Journal of genetic counseling · 2018Article
- Article
- Insurance Coverage Policies for Pharmacogenomic and Multi-Gene Testing for Cancer.Journal of personalized medicine · 2018Article
- Cancer Genetic Counseling and Testing: Perspectives of Epithelial Ovarian Cancer Patients and Gynecologic Oncology Healthcare Providers.Journal of genetic counseling · 2018Article
- Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.Frontiers in genetics · 2018Article
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9 authors.
Funding
Abstract
purposeSequence-based cancer susceptibility testing results are described as negative, deleterious mutation or variant of uncertain significance. We studied the impact of different types of test results on clinical decision making.
methodsPracticing physicians from five specialties in Texas completed an online case-based survey (n = 225). Respondents were asked to make genetic testing and management recommendations for healthy at-risk relatives of patients with cancer.
resultsWhen the patient carried a deleterious BRCA1 mutation or variant of uncertain significance, 98% and 82% of physicians, respectively, recommended testing of at-risk relatives (P < 0.0001). In both situations, comprehensive BRCA1/2 analysis was selected most with a corresponding 9-fold increase in unnecessary genetic testing costs. There was no difference in physicians with (n = 81) or without (n = 144) prior BRCA1/2 testing experience (P = 0.3869). Cancer risk management recommendations were most intense for the relative with a deleterious mutation compared with variant of uncertain significance, negative, or no testing with 63%, 13%, 5%, and 2%, respectively, recommending oophorectomy (P < 0.0001).
conclusionsIndependent of experience, or specialty, physicians chose more comprehensive testing for healthy relatives than current guidelines recommend. In contrast, management decisions demonstrated the uncertainty associated with a variant of uncertain significance. Utilization of genetic professionals and education of physicians on family-centered genetic testing may improve efficacy and substantially reduce costs.
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