title: Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer.
abstract: OBJECTIVE
  How do couples with a BRCA1/2 mutation decide on preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) for hereditary breast and ovarian cancer syndrome (HBOC)?
  
  
  CONCLUSIONS
  BRCA couples primarily classify PGD and/or PND as reproductive options based on the perceived severity of HBOC and moral considerations, and consequently weigh the few important advantages of PGD against numerous smaller disadvantages.
  
  
  BACKGROUND
  Awareness of PGD is generally low among persons at high risk for hereditary cancers. Most persons with HBOC are in favour of offering PGD for BRCA1/2 mutations, although only a minority would consider this option for themselves. Studies exploring the motivations for using or refraining from PGD among well-informed BRCA carriers of reproductive age are lacking. We studied the reproductive decision-making process by interviewing a group of well-informed, reproductive aged couples carrying a BRCA1/2 mutation, regarding their decisional motives and considerations.
  
  
  METHODS
  This exploratory, qualitative study investigated the motives and considerations taken into account by couples with a BRCA1/2 mutation and who have received extensive counselling on PGD and PND and have made a well-informed decision regarding this option. Eighteen couples took part in focus group and dyadic interviews between January and September 2012.
  
  
  METHODS
  Semi-structured focus groups were conducted containing two to four couples, assembled based on the reproductive method the couple had chosen: PGD (n = 6 couples) or conception without testing (n = 8 couples). Couples who had chosen PND for BRCA (n = 4) were interviewed dyadically. Two of the women, of whom one had chosen PND and the other had chosen no testing, had a history of breast cancer.
  
  
  RESULTS
  None of the couples who opted for PGD or conception without testing found the use of PND, with possible pregnancy termination, acceptable. PND users chose this method because of decisive, mainly practical reasons (natural conception, high chance of favourable outcome). Motives and considerations regarding PGD largely overlapped between PGD users, PND users and non-users, all mentioning some significant advantages (e.g. protecting the child and family from the mutation) and many smaller disadvantages (e.g. the necessity of in vitro fertilization (IVF), low chance of pregnancy by IVF/PGD). For female carriers, the safety of hormonal stimulation and the time required for PGD before undergoing preventive surgeries were important factors in the decision. Non-users expressed doubts about the moral justness of their decision afterwards and emphasized the impact the decision still had on their lives.
  
  
  CONCLUSIONS
  The interviewed couples were at different stages in their chosen trajectory, up to 3 years after completion. This may have led to recall bias of original motives and considerations. Couples who did not actively seek information about PGD were excluded. Therefore the results may not be readily generalizable to all BRCA couples.
  
  
  CONCLUSIONS
  The perceived severity of HBOC and, for female carriers, the safety of hormonal stimulation and the time frames for PGD planning before preventive surgeries are essential items BRCA couples consider in reproductive decision-making. The emotional impact of this decision should not be underestimated; especially non-users may experience feelings of doubt or guilt up to several years afterwards. PGD counselling with tailored information addressing these items and decisional support in order to guarantee well-informed decision-making is needed.
  
  
  BACKGROUND
  This study was funded by the Dutch breast cancer foundation Stichting Pink Ribbon, grant number 2010.PS11.C74. None of the authors have competing interests to declare.
  
  
  BACKGROUND
  Not applicable.
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Centre +, PO Box 5800, 6202 AZ Maastricht, The Netherlands.
authors.forename: I A P
authors.initials: IA
authors.lastname: Derks-Smeets
authors.forename: J J G
authors.initials: JJ
authors.lastname: Gietel-Habets
authors.forename: A
authors.initials: A
authors.lastname: Tibben
authors.forename: V C G
authors.initials: VC
authors.lastname: Tjan-Heijnen
authors.forename: M
authors.initials: M
authors.lastname: Meijer-Hoogeveen
authors.forename: J P M
authors.initials: JP
authors.lastname: Geraedts
authors.forename: R
authors.initials: R
authors.lastname: van Golde
authors.forename: E
authors.initials: E
authors.lastname: Gomez-Garcia
authors.forename: E
authors.initials: E
authors.lastname: van den Bogaart
authors.forename: M
authors.initials: M
authors.lastname: van Hooijdonk
authors.forename: C E M
authors.initials: CE
authors.lastname: de Die-Smulders
authors.forename: L A D M
authors.initials: LA
authors.lastname: van Osch
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D003657:Decision Making; D005260:Female; D019398:Genes, BRCA1; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D011296:Prenatal Diagnosis; D055815:Young Adult
keywords: BRCA1/2; hereditary breast and ovarian cancer syndrome; preimplantation genetic diagnosis; prenatal diagnosis; reproductive decision-making