title: Hereditary nonpolyposis colorectal cancer family members' perceptions about the duty to inform and health professionals' role in disseminating genetic information.
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.
authors.affiliation: Winship Cancer Institute, Emory University, Atlanta, Georgia 30322, USA. Rebecca.Pentz@emoryhealthcare.org
authors.forename: Rebecca D
authors.initials: RD
authors.lastname: Pentz
authors.forename: Susan K
authors.initials: SK
authors.lastname: Peterson
authors.forename: Beatty
authors.initials: B
authors.lastname: Watts
authors.forename: Sally W
authors.initials: SW
authors.lastname: Vernon
authors.forename: Patrick M
authors.initials: PM
authors.lastname: Lynch
authors.forename: Laura M
authors.initials: LM
authors.lastname: Koehly
authors.forename: Ellen R
authors.initials: ER
authors.lastname: Gritz
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000523:psychology*; D003219:Confidentiality; D003430:Cross-Sectional Studies; D005190:Family / Q000523:psychology*; D005260:Female; D006282:Health Personnel; D006801:Humans; D033181:Information Dissemination; D007407:Interviews as Topic; D008297:Male; D008875:Middle Aged; D024382:Professional Role