title: High-risk individuals' perceptions of reproductive genetic testing for CDH1 mutations.
abstract: Reproductive genetic testing- PreNatal Diagnosis (PND) and Preimplantation Genetic Diagnosis (PGD)-for CDH1 mutations associated with Hereditary Diffuse Gastric Cancer (HDGC)is available in the UK. This qualitative interview study examined high-risk individuals' (n = 35) views of CDH1 reproductive genetic testing. Interviewees generally regarded reproductive genetic testing as an acceptable form of HDGC risk management. However, some were concerned that their genetic risks required them to plan reproduction and anticipated difficulties communicating this to reproductive partners. Individuals had a preference for PGD over PND because it avoided the need for a termination of pregnancy. However, those who had not yet had children expressed concerns about having to undergo IVF procedures and worries about their effectiveness and the need for embryo selection in PGD. It is suggested that high-risk individuals are provided with access to reproductive genetic counselling.
authors.affiliation: Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK. Nina.Hallowell@ethox.ox.ac.uk.
authors.forename: Nina
authors.identifier: 0000-0002-7647-8524
authors.initials: N
authors.lastname: Hallowell
authors.affiliation: PHG Foundation and Institute of Public Health, University of Cambridge, Cambridge, UK.
authors.forename: Shirlene
authors.initials: S
authors.lastname: Badger
authors.affiliation: Cambridge University Hospitals Trust, Addenbrookes Hospital, Cambridge, UK.|Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK.
authors.forename: Sue
authors.initials: S
authors.lastname: Richardson
authors.affiliation: Cambridge University Hospitals Trust, Addenbrookes Hospital, Cambridge, UK.|Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK.
authors.forename: Carlos
authors.initials: C
authors.lastname: Caldas
authors.affiliation: Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.|PHG Foundation and Institute of Public Health, University of Cambridge, Cambridge, UK.|Cambridge University Hospitals Trust, Addenbrookes Hospital, Cambridge, UK.|Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK.|MRC Cancer Unit, University of Cambridge, Cambridge, UK.|Centre for Population Health Sciences, University of Edinburgh, Edinburgh, UK.
authors.forename: Richard H
authors.initials: RH
authors.lastname: Hardwick
authors.affiliation: Cambridge University Hospitals Trust, Addenbrookes Hospital, Cambridge, UK.|MRC Cancer Unit, University of Cambridge, Cambridge, UK.
authors.forename: Rebecca C
authors.initials: RC
authors.lastname: Fitzgerald
authors.affiliation: Centre for Population Health Sciences, University of Edinburgh, Edinburgh, UK.
authors.forename: Julia
authors.initials: J
authors.lastname: Lawton
mesh_terms: D000328:Adult; D000368:Aged; D015703:Antigens, CD; D015820:Cadherins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000523:psychology*; D013274:Stomach Neoplasms / Q000235:genetics*
chemical_list: D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins
keywords: E-Cadherin (CDH1); Hereditary cancer; Hereditary diffuse gastric cancer (HDGC); Preimplantation genetic diagnosis (PGD); Prenatal diagnosis (PND); Reproductive genetic testing