摘要
Next generation sequencing offers benefit of improved health through knowledge, but comes with challenges, such as inevitable incidental findings (IFs). The applicability of recommended criteria for disclosure of individual results when applied to disclosure of IFs is not well known. The purpose of this study was to examine how medical genetic specialists, genomic researchers, and Institutional Review Board (IRB) chairs perceive the importance of recommended criteria when applied to genetic/genomic IFs. We conducted telephone interviews with medical genetic specialists (genetic counselors, genetic nurses, medical geneticists, laboratory professionals), genomic researchers, and IRB chairs (N = 103). Respondents rated and discussed the importance of nine recommended criteria regarding disclosure of genetic/genomic IFs. Stakeholders agreed the most important criteria for disclosure were: (1) the IF points to a life-threatening condition; (2) there is a treatment; (3) individuals indicate in writing they wanted to be informed of IFs. Criteria rated less important were: analytic validity, high penetrance, association with a young age of onset and relative risk more than 2.0. Respondents indicated that some technical criteria were confusing, and in need of context. Our findings suggest that development of guidelines regarding management of IF include multiple stakeholders' perspectives and be based on a common language.
| 原文 | 英語 |
|---|---|
| 頁（從 - 到） | 544-553 |
| 頁數 | 10 |
| 期刊 | Journal of Genetic Counseling |
| 卷 | 22 |
| 發行號 | 4 |
| DOIs | |
| 出版狀態 | 已發佈 - 八月 2013 |
指紋
ASJC Scopus subject areas
- Genetics(clinical)
- Medicine(all)
引用此文
A closer look at the recommended criteria for disclosing genetic results : Perspectives of medical genetic specialists, genomic researchers, and institutional review board chairs. / Brandt, Debra S.; Shinkunas, Laura; Hillis, Stephen L.; Daack-Hirsch, Sandra E.; Driessnack, Martha; Downing, Nancy R.; Liu, Megan F.; Shah, Lisa L.; Williams, Janet K.; Simon, Christian M.
於: Journal of Genetic Counseling, 卷 22, 編號 4, 08.2013, p. 544-553.研究成果: 雜誌貢獻 › 文章
}
TY - JOUR
T1 - A closer look at the recommended criteria for disclosing genetic results
T2 - Perspectives of medical genetic specialists, genomic researchers, and institutional review board chairs
AU - Brandt, Debra S.
AU - Shinkunas, Laura
AU - Hillis, Stephen L.
AU - Daack-Hirsch, Sandra E.
AU - Driessnack, Martha
AU - Downing, Nancy R.
AU - Liu, Megan F.
AU - Shah, Lisa L.
AU - Williams, Janet K.
AU - Simon, Christian M.
PY - 2013/8
Y1 - 2013/8
N2 - Next generation sequencing offers benefit of improved health through knowledge, but comes with challenges, such as inevitable incidental findings (IFs). The applicability of recommended criteria for disclosure of individual results when applied to disclosure of IFs is not well known. The purpose of this study was to examine how medical genetic specialists, genomic researchers, and Institutional Review Board (IRB) chairs perceive the importance of recommended criteria when applied to genetic/genomic IFs. We conducted telephone interviews with medical genetic specialists (genetic counselors, genetic nurses, medical geneticists, laboratory professionals), genomic researchers, and IRB chairs (N = 103). Respondents rated and discussed the importance of nine recommended criteria regarding disclosure of genetic/genomic IFs. Stakeholders agreed the most important criteria for disclosure were: (1) the IF points to a life-threatening condition; (2) there is a treatment; (3) individuals indicate in writing they wanted to be informed of IFs. Criteria rated less important were: analytic validity, high penetrance, association with a young age of onset and relative risk more than 2.0. Respondents indicated that some technical criteria were confusing, and in need of context. Our findings suggest that development of guidelines regarding management of IF include multiple stakeholders' perspectives and be based on a common language.
AB - Next generation sequencing offers benefit of improved health through knowledge, but comes with challenges, such as inevitable incidental findings (IFs). The applicability of recommended criteria for disclosure of individual results when applied to disclosure of IFs is not well known. The purpose of this study was to examine how medical genetic specialists, genomic researchers, and Institutional Review Board (IRB) chairs perceive the importance of recommended criteria when applied to genetic/genomic IFs. We conducted telephone interviews with medical genetic specialists (genetic counselors, genetic nurses, medical geneticists, laboratory professionals), genomic researchers, and IRB chairs (N = 103). Respondents rated and discussed the importance of nine recommended criteria regarding disclosure of genetic/genomic IFs. Stakeholders agreed the most important criteria for disclosure were: (1) the IF points to a life-threatening condition; (2) there is a treatment; (3) individuals indicate in writing they wanted to be informed of IFs. Criteria rated less important were: analytic validity, high penetrance, association with a young age of onset and relative risk more than 2.0. Respondents indicated that some technical criteria were confusing, and in need of context. Our findings suggest that development of guidelines regarding management of IF include multiple stakeholders' perspectives and be based on a common language.
KW - Biomedical ethics
KW - Genetic research
KW - Genetic testing
KW - Human genome
KW - Incidental findings
KW - Institutional review board
UR - http://www.scopus.com/inward/record.url?scp=84879800223&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84879800223&partnerID=8YFLogxK
U2 - 10.1007/s10897-013-9583-5
DO - 10.1007/s10897-013-9583-5
M3 - Article
C2 - 23547023
AN - SCOPUS:84879800223
VL - 22
SP - 544
EP - 553
JO - Journal of Genetic Counseling
JF - Journal of Genetic Counseling
SN - 1059-7700
IS - 4
ER -