European Journal of Human Genetics (2012) 20, 4–10; doi:10.1038/ejhg.2011.146; published online 3 August 2011

Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis

Elizabeth Ormondroyd1, Louise Donnelly2, Clare Moynihan3, Cornelie Savona4, Elizabeth Bancroft5, D Gareth Evans6, Rosalind Eeles7, Stuart Lavery8 and Maggie Watson9

  1. 1Department of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, UK
  2. 2Nightingale Centre and Genesis Prevention Centre, Wythenshawe Hospital, Manchester, UK
  3. 3Psychology Research Group, The Institute of Cancer Research, Sutton, UK
  4. 4South London and Maudsley NHS Foundation Trust, Bethlem Royal Hospital, Beckenham, UK
  5. 5Department of Cancer Genetics, The Royal Marsden NHS Foundation Trust, Sutton, UK
  6. 6Department of Genetic Medicine, St Mary's Hospital, Manchester, UK
  7. 7Department of Cancer Genetics, The Institute of Cancer Research/The Royal Marsden NHS Foundation Trust, Sutton, UK
  8. 8Department of Reproductive Medicine, Hammersmith Hospital, London, UK
  9. 9Psychology Research Group, The Institute of Cancer Research/The Royal Marsden NHS Foundation Trust, Sutton, UK

Correspondence: Dr E Ormondroyd, Department of Cardiovascular Medicine, Level 6 West Wing, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK. Tel: +44 18 6523 4676; Fax: +44 18 6523 4677; E-mail:

Received 26 January 2011; Revised 25 May 2011; Accepted 28 June 2011; Published online 3 August 2011.



The scope of conditions for which preimplantation genetic diagnosis (PGD) is licensed has recently been expanded in the United Kingdom to include genetic predisposition to adult-onset cancer. This qualitative interview study explores reproductive decision making, knowledge of and attitudes to reproductive genetic testing (prenatal diagnosis and PGD) with 25 women aged 18–45 years who received a positive BRCA test in the United Kingdom before having children. In this cohort of younger women, BRCA testing was motivated by risk management decisions; for some, BRCA status has affected their later decisions about having children. The perceived severity of hereditary breast/ovarian cancer (HBOC) influences thoughts about passing on the mutation to children and willingness to consider reproductive genetic testing, but most participants do not believe HBOC is a condition for which pregnancy termination is justified. PGD is considered more acceptable and advantageous because it would prevent transmission to future generations, but women have concerns about selecting embryos and the fact that they and affected family members would not have been selected. Women would also be deterred by the need to undergo in vitro fertilisation (IVF) and ovarian stimulation for PGD. Awareness of reproductive testing options was very variable among the cohort. The findings highlight the complexities of reproductive decision making for young women who knowingly carry a BRCA mutation, and the dilemmas inherent to reproductive genetic testing when the condition being tested for also affects a prospective parent. Counselling and psychological support for BRCA-positive women and couples concerning reproductive options are strongly indicated.


BRCA; reproductive; attitudes; cancer; psychosocial; qualitative