lunes, 21 de octubre de 2013

Communication of genetic test results to family an... [Genet Med. 2013] - PubMed - NCBI

Communication of genetic test results to family an... [Genet Med. 2013] - PubMed - NCBI
Genet Med. 2013 Oct 3. doi: 10.1038/gim.2013.137. [Epub ahead of print]

Communication of genetic test results to family and health-care providers following disclosure of research results.

Source

Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA.

Abstract

Purpose:Few 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.Methods:We 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.Results:Among 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).Conclusion:Research 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.Genet Med advance online publication 3 October 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.137.
PMID:
24091800
[PubMed - as supplied by publisher]

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