ArticleGenetics in medicine : official journal of the American College of Medical Genetics2014
Communication of genetic test results to family and health-care providers following disclosure of research results.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Return of individual research results from genomic research: A systematic review of stakeholder perspectives.PloS one · 2021Pooled 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
- Adaptation of the working alliance inventory for the assessment of the therapeutic alliance in genetic counseling.Journal of genetic counseling · 2021Trial
- A randomized study of digital versus genetic counselor return of actionable genetic research results to biobank participants (RESPECT3 study).BMC medical ethics · 2026Article
- Research opportunities in precision oncology: perspectives on biospecimen and genomic data sharing from adults with cancer in Ireland.Irish journal of medical science · 2025Article
- Sharing and seeking information about skin cancer risk and prevention among Hispanic people from Florida and Puerto Rico.PEC innovation · 2023Article
- Challenges for clinical application of "TRACEBACK" study: testing of historical Tubo-Ovarian cancer patients for hereditary risk genes.Annals of translational medicine · 2023Article
- A Focused Clinical Review of Lynch Syndrome.Cancer management and research · 2023Review
- "If relatives inherited the gene, they should inherit the data." Bringing the family into the room where bioethics happens.New genetics and society · 2022Article
- Sharing genetic test results of germline pathogenic variants of hereditary cancer with relatives: A single-center cross-sectional study.Japanese journal of clinical oncology · 2021Article
- Patient and Family Preferences on Health System-Led Direct Contact for Cascade Screening.Journal of personalized medicine · 2021Article
- Usefulness of mobile apps for communication of genetic test results to at-risk family members in a U.S. integrated health system: a qualitative approach from user-testing.Health policy and technology · 2021Article
- Views on genomic research result delivery methods and informed consent: a review.Personalized medicine · 2021Review
- Exploring relatives' perceptions of participation, ethics, and communication in a patient-driven study for hereditary cancer variant reclassification.Journal of genetic counseling · 2020Article
- The big reveal: Family disclosure patterns of BRCA genetic test results among young Black women with invasive breast cancer.Journal of genetic counseling · 2020Article
- Pancreatic cancer and melanoma related perceptions and behaviors following disclosure of CDKN2A variant status as a research result.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- "It would be so much easier": health system-led genetic risk notification-feasibility and acceptability of cascade screening in an integrated system.Journal of community genetics · 2019Article
- Much ado about nothing: A qualitative study of the experiences of an average-risk population receiving results of exome sequencing.Journal of genetic counseling · 2019Article
- Cohort Profile: The Colon Cancer Family Registry Cohort (CCFRC).International journal of epidemiology · 2018Article
- Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants.The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2018Article
Corrections and comments
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Authors and funding
13 authors at 7 institutions in 3 countries.
Funding
Abstract
purposeFew studies have examined methods to promote communication following the return of DNA mismatch repair genetic test results obtained during research. The purpose of the present study was to evaluate a telephone protocol for returning research results of DNA mismatch repair gene testing to identify Lynch syndrome.
methodsWe invited individuals with known DNA mismatch repair mutations in their family, who were enrolled in the Colon Cancer Family Registry at the Mayo Clinic, to participate in this study. Participants completed surveys before and 6 months after DNA mismatch repair test result disclosure.
resultsAmong 107 participants, 79% opted to learn their DNA mismatch repair test results; of these, 44 (41%) carried DNA mismatch repair mutations. After disclosure, 54% reported screening for any type of cancer. Among carriers, >74% reported communicating results to family; communication was predicted by baseline confidence in coping with the genetic test result (Z = 1.97; P = 0.04). Result disclosure to a physician was predicted by greater perceived cancer risk (Z = 2.08; P = 0.03) and greater intention to share results with family (Z = 3.07; P = 0.002).
conclusionResearch versus clinically based gene disclosure presents challenges. A telephone disclosure process for the return of research-based results among Lynch syndrome families led to high rates of result uptake and participant communication of results to providers and family members.
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