title: Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.
abstract: To what extent are BRCA mutation carriers and their partners in the Netherlands aware about preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) as reproductive options and what is their attitude towards these options?
  
  
  
  Awareness of PGD (66%) and PND (61%) among BRCA mutation carriers and their partners is relatively high and 80% and 26%, respectively, of BRCA carriers and their partners find offering PGD and PND for hereditary breast and ovarian cancer (HBOC) acceptable.
  
  
  
  Internationally, awareness of PGD among persons with a genetic cancer predisposition appears to be relatively low (35%) and although acceptability is generally high (71%), only a small proportion of mutation carriers would consider using PGD (36%). However, for HBOC, there are no studies available that investigated the perspective of individuals with a confirmed BRCA1/2 mutation and their partners about PGD and PND including demographic and medical correlates of awareness and acceptability.
  
  
  
  A cross-sectional survey was completed by 191 participants between July 2012 and June 2013. Participants were recruited through patient organizations (88%) and the databases of two Clinical Genetics departments in the Netherlands (12%).
  
  
  
  Male and female BRCA carriers and their partners completed an online survey, which assessed demographic and medical characteristics, and awareness, knowledge, acceptability and consideration of PGD and PND as main outcomes. Correlations between demographic and medical characteristics and the main outcomes were investigated.
  
  
  
  The majority of respondents were female (87%), of reproductive age (86%) and about half reported a desire for a child in the future. About two-thirds (66%) were aware of PGD and 61% of PND for HBOC. PGD knowledge was moderate (5.5 on a 9-point scale) and acceptability of PGD and PND for HBOC was 80% and 26%, respectively. A minority would personally consider using PGD (39%) or PND (20%). Individuals with a higher educational level were more likely to be aware of PGD (P < 0.001) and PND (P < 0.001) and persons with a more immediate child wish were more often aware of PGD (P = 0.044) and had more knowledge about PGD (P = 0.001). PGD acceptability was positively associated with knowledge about PGD (P = 0.047), and PND acceptability was higher among partners in comparison to carriers (P = 0.001). Participants with a history of cancer and with a higher perceived seriousness of breast and ovarian cancer were more likely to consider using PGD (P = 0.003 and P < 0.001 respectively) or PND (P = 0.021 and P = 0.017 respectively).
  
  
  
  The response rate (23%) of participants invited by the clinical genetics departments was low, probably related to a simultaneous study that used a similar recruitment strategy within the same target group, which may have resulted in selection bias. Moreover, PGD knowledge was measured with an instrument that is not yet validated since to date such an instrument is not available in the literature. Finally, the cross-sectional design of this study limits us from drawing any causal conclusions.
  
  
  
  Improvement of information provision remains needed, in order to timely inform all couples with HBOC about the available reproductive options and enable them to make a balanced reproductive decision. This may limit the risk of negative psychological impact due to decisional conflict and possible regret.
  
  
  
  The Dutch breast cancer foundation Stichting Pink Ribbon (grant number 2010.PS11.C74). None of the authors have competing interests to declare.
  
  
  
  Not applicable.
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Centre, PO Box 5800, 6202 AZ Maastricht, The Netherlands.|GROW - School for Oncology and Developmental Biology, Maastricht University Medical Centre+, PO Box 616, 6200 MD Maastricht, The Netherlands.
authors.forename: J J G
authors.initials: JJ
authors.lastname: Gietel-Habets
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Centre, PO Box 5800, 6202 AZ Maastricht, The Netherlands.|GROW - School for Oncology and Developmental Biology, Maastricht University Medical Centre+, PO Box 616, 6200 MD Maastricht, The Netherlands.
authors.forename: C E M
authors.initials: CE
authors.lastname: de Die-Smulders
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Centre, PO Box 5800, 6202 AZ Maastricht, The Netherlands.|GROW - School for Oncology and Developmental Biology, Maastricht University Medical Centre+, PO Box 616, 6200 MD Maastricht, The Netherlands.
authors.forename: I A P
authors.initials: IA
authors.lastname: Derks-Smeets
authors.affiliation: Centre for Human and Clinical Genetics, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: Tibben
authors.affiliation: GROW - School for Oncology and Developmental Biology, Maastricht University Medical Centre+, PO Box 616, 6200 MD Maastricht, The Netherlands.|Department of Internal Medicine, division of Medical Oncology, Maastricht University Medical Centre+, PO Box 5800, 6202 AZ Maastricht, The Netherlands.
authors.forename: V C G
authors.initials: VC
authors.lastname: Tjan-Heijnen
authors.affiliation: Department of Obstetrics and Gynaecology, Maastricht University Medical Centre +, PO Box 5800, 6202 AZ Maastricht, The Netherlands.
authors.forename: R
authors.initials: R
authors.lastname: van Golde
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Centre, PO Box 5800, 6202 AZ Maastricht, The Netherlands.|GROW - School for Oncology and Developmental Biology, Maastricht University Medical Centre+, PO Box 616, 6200 MD Maastricht, The Netherlands.
authors.forename: E
authors.initials: E
authors.lastname: Gomez-Garcia
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Centre, code 848, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
authors.forename: C M
authors.initials: CM
authors.lastname: Kets
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Centre, PO Box 5800, 6202 AZ Maastricht, The Netherlands.|Department of Health Promotion/CAPHRI, Maastricht University, PO Box 616, 6200 MD Maastricht, The Netherlands.
authors.forename: L A D M
authors.initials: LA
authors.lastname: van Osch
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D003430:Cross-Sectional Studies; D003657:Decision Making; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male; D009426:Netherlands; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D012098:Reproduction / Q000502:physiology*
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human
keywords: BRCA mutation; Preimplantation genetic diagnosis (PGD); acceptability; awareness; hereditary breast and ovarian cancer (HBOC); knowledge; prenatal diagnosis (PND)