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Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study : experiences from re-contacting mutation carriers and relatives

Nilsson, Martin P. LU ; Emmertz, Monica; Kristoffersson, Ulf LU ; Borg, Åke LU ; Larsson, Christer LU ; Rehn, Martin LU ; Winter, Christof LU ; Saal, Lao H. LU ; Brandberg, Yvonne and Loman, Niklas LU (2017) In Journal of Community Genetics
Abstract

Once an incidental finding (IF) is discovered in the course of genomic research, the researchers are faced with the question of whether or not that finding should be reported back to the study participant. A large number of hypothetical studies and policy documents on this issue have been published, but there are very few empirical studies to inform the bioethics debate. Within a biobank research study of somatic mutations in breast carcinomas, ten germline BRCA1/2 mutations were incidentally detected. After thorough discussions within a group of experts, the mutation carriers (n = 7) or relatives of deceased carriers (n = 3) were re-contacted and informed about the findings. Eight out of ten accepted to receive the information and... (More)

Once an incidental finding (IF) is discovered in the course of genomic research, the researchers are faced with the question of whether or not that finding should be reported back to the study participant. A large number of hypothetical studies and policy documents on this issue have been published, but there are very few empirical studies to inform the bioethics debate. Within a biobank research study of somatic mutations in breast carcinomas, ten germline BRCA1/2 mutations were incidentally detected. After thorough discussions within a group of experts, the mutation carriers (n = 7) or relatives of deceased carriers (n = 3) were re-contacted and informed about the findings. Eight out of ten accepted to receive the information and underwent confirmatory testing. One year later, semi-structured interviews were undertaken with three of the study participants. All of them felt that BRCA mutations discovered in the course of research should be reported back to the individual study participants. In this paper, we report our step-by-step experiences of the re-contacting process. We hope that our detailed reporting will be helpful for other researchers and clinicians that are faced with similar situations. The results of our study lend empirical support to opinion that IFs that meet the three baseline criteria of analytic validity, clinical significance, and actionability should be reported back to the individual study participants.

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author
organization
publishing date
type
Contribution to journal
publication status
epub
subject
keywords
Biobank, BRCA1, BRCA2, Genetic, Incidental findings
in
Journal of Community Genetics
pages
8 pages
publisher
Springer
external identifiers
  • scopus:85032499288
  • pmid:29082482
ISSN
1868-310X
DOI
10.1007/s12687-017-0341-5
language
English
LU publication?
yes
id
aa0ee758-645c-4cb2-a9bd-8d96c1313338
date added to LUP
2017-11-13 09:09:45
date last changed
2018-08-14 03:00:17
@article{aa0ee758-645c-4cb2-a9bd-8d96c1313338,
  abstract     = {<p>Once an incidental finding (IF) is discovered in the course of genomic research, the researchers are faced with the question of whether or not that finding should be reported back to the study participant. A large number of hypothetical studies and policy documents on this issue have been published, but there are very few empirical studies to inform the bioethics debate. Within a biobank research study of somatic mutations in breast carcinomas, ten germline BRCA1/2 mutations were incidentally detected. After thorough discussions within a group of experts, the mutation carriers (n = 7) or relatives of deceased carriers (n = 3) were re-contacted and informed about the findings. Eight out of ten accepted to receive the information and underwent confirmatory testing. One year later, semi-structured interviews were undertaken with three of the study participants. All of them felt that BRCA mutations discovered in the course of research should be reported back to the individual study participants. In this paper, we report our step-by-step experiences of the re-contacting process. We hope that our detailed reporting will be helpful for other researchers and clinicians that are faced with similar situations. The results of our study lend empirical support to opinion that IFs that meet the three baseline criteria of analytic validity, clinical significance, and actionability should be reported back to the individual study participants.</p>},
  author       = {Nilsson, Martin P. and Emmertz, Monica and Kristoffersson, Ulf and Borg, Åke and Larsson, Christer and Rehn, Martin and Winter, Christof and Saal, Lao H. and Brandberg, Yvonne and Loman, Niklas},
  issn         = {1868-310X},
  keyword      = {Biobank,BRCA1,BRCA2,Genetic,Incidental findings},
  language     = {eng},
  month        = {10},
  pages        = {8},
  publisher    = {Springer},
  series       = {Journal of Community Genetics},
  title        = {Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study : experiences from re-contacting mutation carriers and relatives},
  url          = {http://dx.doi.org/10.1007/s12687-017-0341-5},
  year         = {2017},
}