Professionals' knowledge, attitude and referral behaviour of preimplantation genetic diagnosis for hereditary breast and ovarian cancer

J. J. G. Gietel-Habets*, C. E. M. de Die-Smulders, V. C. G. Tjan-Heijnen, I. A. P. Derks-Smeets, R. van Golde, E. Gomez-Garcia, L. A. D. M. van Osch

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Hereditary breast and ovarian cancer caused by a BRCA1/2 mutation is the most frequent indication for preimplantation genetic diagnosis (PGD) in the Netherlands. The extent to which involved professionals are informed about this option, however, is unclear. The few available international studies mostly represent a limited range of professionals, and suggest that their knowledge about PGD for hereditary cancer syndromes is sparse and referral for PGD is based on limited understanding. A cross-sectional survey assessing awareness, knowledge, acceptability and PGD-referral for BRCA was completed by 188 professionals involved in the field of breast and ovarian cancer or reproduction. One-half of professionals were aware of PGD for BRCA, and most had a low to moderate level of knowledge. A total of 86% considered PGD for BRCA acceptable and 48% had referred patients with BRCA for PGD. Awareness and knowledge was higher among professionals who worked at a university hospital (compared with a general hospital). Knowledge of PGD was positively associated with discussing and referring for PGD, and PGD acceptability was associated with previous awareness. Although PGD counselling is the primary responsibility of the geneticist, other involved professionals may be gatekeepers as patients rely on them for raising awareness and referral. (C) 2017 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
Original languageEnglish
Pages (from-to)137-144
Number of pages8
JournalReproductive Biomedicine Online
Issue number2
Publication statusPublished - 1 Feb 2018


  • Preimplantation genetic diagnosis (PGD)
  • BRCA mutation
  • Professionals
  • Awareness
  • Knowledge
  • Acceptability
  • PGD
  • BRCA1

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