Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study: experiences from re-contacting
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ORIGINAL ARTICLE
Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study: experiences from re-contacting mutation carriers and relatives Martin P. Nilsson 1,2 & Monica Emmertz 3 & Ulf Kristoffersson 3,4 & Åke Borg 1 & Christer Larsson 5 & Martin Rehn 6 & Christof Winter 1,7 & Lao H. Saal 1 & Yvonne Brandberg 8 & Niklas Loman 1,2
Received: 30 May 2017 / Accepted: 9 October 2017 # The Author(s) 2017. This article is an open access publication
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 underwent confirmatory testing. One year later, semi-structured interviews were undertaken
* Martin P. Nilsson [email protected]
1
Division of Oncology and Pathology, Department of Clinical Sciences, Lund University, Lund, Sweden
2
Department of Oncology, Skåne University Hospital, SE-221 85 Lund, Sweden
3
Department of Clinical Genetics, Laboratory Medicine Region Skåne, Lund, Sweden
4
Department of Clinical Genetics, Lund University, Lund, Sweden
5
Department of Translational Cancer Research, Lund University, Lund, Sweden
6
Department of Surgery, Skåne University Hospital, Malmö, Sweden
7
Present address: Institute of Clinical Chemistry and Pathobiochemistry, Klinikum rechts der Isar, Technische Universität München, Munich, Germany
8
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
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 recontacting 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. Keywords Incidental findings . Biobank . Genetic . BRCA1 . BRCA2
Background In the genomic research setting, an incidental finding (IF) is a finding concerning an individual research participant that has potential health or reproductive importance and is discovered in the course of conducting research but is beyond the aims of the study (Wolf et al. 2008). In the clinical
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