Familial Cancer

, Volume 16, Issue 4, pp 531–535 | Cite as

High-risk individuals’ perceptions of reproductive genetic testing for CDH1 mutations

  • Nina HallowellEmail author
  • Shirlene Badger
  • Sue Richardson
  • Carlos Caldas
  • Richard H. Hardwick
  • Rebecca C. Fitzgerald
  • Julia Lawton
Short Communication


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.


Hereditary diffuse gastric cancer (HDGC) E-Cadherin (CDH1Reproductive genetic testing Preimplantation genetic diagnosis (PGD) Prenatal diagnosis (PND) Hereditary cancer 



The authors would like to acknowledge the support of the Sir Halley Stewart Trust. The FGCS is funded by infrastructure grants to the Cambridge NIHR BRC and the Cancer Research UK funded ECMC at the University of Cambridge. The views and opinions expressed are the authors and do not necessarily reflect those of NIHR, the NHS or the Department of Health. The authors thank all the interviewees.


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Copyright information

© Springer Science+Business Media Dordrecht 2017

Authors and Affiliations

  1. 1.Ethox Centre, Nuffield Department of Population HealthUniversity of OxfordOxfordUK
  2. 2.PHG Foundation and Institute of Public HealthUniversity of CambridgeCambridgeUK
  3. 3.Cambridge University Hospitals Trust, Addenbrookes HospitalCambridgeUK
  4. 4.Cancer Research UK Cambridge InstituteUniversity of CambridgeCambridgeUK
  5. 5.MRC Cancer UnitUniversity of CambridgeCambridgeUK
  6. 6.Centre for Population Health SciencesUniversity of EdinburghEdinburghUK

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