title: 'The BRCA clock is ticking!': negotiating medical concerns and reproductive goals in preimplantation genetic diagnosis.
abstract: Despite research on BRCA1/2 mutation carriers attitudes towards preimplantation genetic diagnosis (PGD), considerably less is known about individuals' experience with its use. Through case reports of BRCA1/2 mutation carriers' thoughts on, and use of, PGD, this paper highlights how the option of PGD is experienced and negotiated in the context of reproductive and life-course goals. Drawing on qualitative interviews with 38 BRCA1/2 mutation carriers, this article focuses on a subsample of 10 interviewees who sought consultation for, and/or attempted, PGD, with in-depth reports of 3 cases and summary decisions of the remaining 7. Three couples decided against PGD, and one was deciding at the time of the interview. Interviewees discuss key aspects of their experience prior to, and going through, PGD for BRCA1/2, including potential challenges of becoming pregnant through PGD and of heightened pressure to achieve their reproductive goals more quickly. Despite considerable focus on ethical issues in screening embryos for mutations associated with adult-onset cancer risk, less attention has been paid to the technical, logistical, and related psychosocial issues. Narrative case reports may help individuals develop appropriate expectations of PGD for BRCA prepare for possibly challenging decisions and outcomes, and ultimately determine whether it is compatible with their reproductive goals.
authors.affiliation: Department of Psychology, New School for Social Research , New York, NY , USA.
authors.forename: Lisa R
authors.initials: LR
authors.lastname: Rubin
authors.forename: Allison
authors.initials: A
authors.lastname: Werner-Lin
authors.forename: Michal
authors.initials: M
authors.lastname: Sagi
authors.forename: Ina
authors.initials: I
authors.lastname: Cholst
authors.forename: Rikki
authors.initials: R
authors.lastname: Stern
authors.forename: Debra
authors.initials: D
authors.lastname: Lilienthal
authors.forename: Karen
authors.initials: K
authors.lastname: Hurley
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics / Q000378:metabolism*; D024682:BRCA2 Protein / Q000235:genetics / Q000378:metabolism*; D001943:Breast Neoplasms / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D019836:Preimplantation Diagnosis / Q000941:ethics*
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein
keywords: BRCA1/2; PGD; case study; prenatal diagnosis