Genetic Counselors' Experiences Regarding Communication of Reproductive Risks with Autosomal Recessive Conditions found on Cancer Panels
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- 作者：Sarah Mets ; Rebecca Tryon ; Patricia McCarthy Veach…
- 关键词：Cancer panels ; Fanconi anemia ; Constitutional mismatch repair deficiency syndrome ; Ataxia telangiectasia ; Reproductive risk ; Cancer genetic counseling ; Cancer risk
- 刊名：Journal of Genetic Counseling
- 出版年：2016
- 出版时间：April 2016
- 年：2016
- 卷：25
- 期：2
- 页码：359-372
- 全文大小：509 KB
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Rebecca Tryon (2)
Patricia McCarthy Veach (3)
Heather A. Zierhut (1)
1. Department of Genetics, Cell Biology, & Development, University of Minnesota, 321 Church Street, 6-160 Jackson Hall, Minneapolis, MN, 55455, USA
2. Fairview Health Services, Minneapolis, MN, 55455, USA
3. Department of Educational Psychology, University of Minnesota, Minneapolis, MN, 55455, USA - 刊物类别：Biomedical and Life Sciences
- 刊物主题：Biomedicine
Human Genetics
Public Health
Clinical Psychology
Gynecology
Ethics - 出版者：Springer Netherlands
- ISSN：1573-3599
文摘
The development of hereditary cancer genetic testing panels has altered genetic counseling practice. Mutations within certain genes on cancer panels pose not only a cancer risk, but also a reproductive risk for autosomal recessive conditions such as Fanconi anemia, constitutional mismatch repair deficiency syndrome, and ataxia telangiectasia. This study aimed to determine if genetic counselors discuss reproductive risks for autosomal recessive conditions associated with genes included on cancer panels, and if so, under what circumstances these risks are discussed. An on-line survey was emailed through the NSGC list-serv. The survey assessed 189 cancer genetic counselors' experiences discussing reproductive risks with patients at risk to carry a mutation or variant of uncertain significance (VUS) in a gene associated with both an autosomal dominant cancer risk and an autosomal recessive syndrome. Over half (n = 82, 55 %) reported having discussed reproductive risks; the remainder (n = 66, 45 %) had not. Genetic counselors who reported discussing reproductive risks primarily did so when patients had a positive result and were of reproductive age. Reasons for not discussing these risks included when a patient had completed childbearing or when a VUS was identified. Most counselors discussed reproductive risk after obtaining results and not during the informed consent process. There is inconsistency as to if and when the discussion of reproductive risks is taking place. The wide variation in responses suggests a need to develop professional guidelines for when and how discussions of reproductive risk for autosomal recessive conditions identified through cancer panels should occur with patients.