Hereditary nonpolyposis colorectal cancer family members' perceptions about the duty to inform and health professionals' role in disseminating genetic information

• Type of Material: Conference Paper
• Authors: Rebecca Pentz, Emory University; Susan K. Peterson, University of Texas; Beatty Watts, University of Texas; Sally W. Vernon, University of Texas; Patrick M. Lynch, University of Texas; Laura M. Koehly, National Human Genome Research Institute; Ellen R. Gritz, University of Texas
• Language: English
• Date: 2005-09-01
• Publisher: Emory University Libraries
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © Mary Ann Liebert, Inc.
• Final Published Version (URL): http://dx.doi.org/10.1089/gte.2005.9.261
• Title of Journal or Parent Work: Genetics Testing
• Conference or Event Name: Annual Meeting of the American-Society-of-Clinical-Oncology
• Volume: 9
• Issue: 3
• Start Page: 261
• End Page: 268
• Grant/Funding Information: This research was supported in part by the National Human Genome Research Institute, National Institutes of Health grant number 2R01HG1200-6, and by The Kleberg Human Cancer Genetics Development Fund.
• Keywords: Medicine, Research & Experimental; Life Sciences & Biomedicine; INDIVIDUALS; ATTITUDES; MUTATION CARRIERS; OVARIAN-CANCER; BREAST; DISCLOSURE; Science & Technology; COLON-CANCER; Research & Experimental Medicine; COMMUNICATION; RISK; SUSCEPTIBILITY; Genetics & Heredity
• Research Categories: Health Sciences, Oncology; Biology, Genetics

Abstract

This study's aim was to ascertain hereditary nonpolyposis colorectal cancer (HNPCC) families' views on the duty to inform with particular focus on the role of health professionals in disseminating familial genetic information. Eighty members of 16 families with a clinical or molecular diagnosis of HNPCC completed qualitative interviews regarding views on family members' right to know and who should disseminate familial genetic information. Most indicated that everyone in the family should know about the presence of a mutation in the family, with family members themselves being the preferable informant, supported by health professionals who were seen as helpful in overcoming barriers. All but one respondent indicated that if a parent did not test and presumably did not inform his/her child about the family mutation, the child should be informed by other family members or by a health professional. Many were attuned to confidentiality concerns, but judged them to be outweighed by the importance of family members knowing about the mutation and undertaking proper surveillance. Respondents were more private about the disclosure of individual results to other family members, clearly distinguishing personal results from familial genetic information. These families with a hereditary colon cancer syndrome favor open sharing of genetic information within the family, and desire the supportive involvement of health care professionals in disseminating genetic information.