title: Genetic Counselors' Experiences Regarding Communication of Reproductive Risks with Autosomal Recessive Conditions found on Cancer Panels.
abstract: 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.
authors.affiliation: Department of Genetics, Cell Biology, & Development, University of Minnesota, 321 Church Street, 6-160 Jackson Hall, Minneapolis, MN, 55455, USA.
authors.forename: Sarah
authors.initials: S
authors.lastname: Mets
authors.affiliation: Fairview Health Services, Minneapolis, MN, 55455, USA.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Tryon
authors.affiliation: Department of Educational Psychology, University of Minnesota, Minneapolis, MN, 55455, USA.
authors.forename: Patricia McCarthy
authors.initials: PM
authors.lastname: Veach
authors.affiliation: Department of Genetics, Cell Biology, & Development, University of Minnesota, 321 Church Street, 6-160 Jackson Hall, Minneapolis, MN, 55455, USA. zier0034@umn.edu.
authors.forename: Heather A
authors.initials: HA
authors.lastname: Zierhut
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D003142:Communication; D005260:Female; D052138:Genes, Neoplasm / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D005817:Genetic Counseling / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D019983:Guideline Adherence; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics*; D043762:Reproductive Behavior; D018570:Risk Assessment; D012985:Software Design; D011795:Surveys and Questionnaires; D055815:Young Adult
keywords: Ataxia telangiectasia; Cancer genetic counseling; Cancer panels; Cancer risk; Constitutional mismatch repair deficiency syndrome; Fanconi anemia; Reproductive risk