Literature DB >> 25105219

'The BRCA clock is ticking!': negotiating medical concerns and reproductive goals in preimplantation genetic diagnosis.

Lisa R Rubin1, Allison Werner-Lin, Michal Sagi, Ina Cholst, Rikki Stern, Debra Lilienthal, Karen Hurley.   

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.

Entities:  

Keywords:  BRCA1/2; PGD; case study; prenatal diagnosis

Mesh:

Substances:

Year:  2014        PMID: 25105219     DOI: 10.3109/14647273.2014.940003

Source DB:  PubMed          Journal:  Hum Fertil (Camb)        ISSN: 1464-7273            Impact factor:   2.767


  4 in total

1.  Performing and Declining PGD: Accounts of Jewish Israeli Women Who Carry a BRCA1/2 Mutation or Partners of Male Mutation Carriers.

Authors:  Efrat Dagan; Daphna Birenbaum-Carmeli; Eitan Friedman; Baruch Feldman
Journal:  J Genet Couns       Date:  2017-03-06       Impact factor: 2.537

2.  Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers.

Authors:  Pnina Mor; Sarah Brennenstuhl; Kelly A Metcalfe
Journal:  J Genet Couns       Date:  2018-06-01       Impact factor: 2.537

3.  "It was an Emotional Baby": Previvors' Family Planning Decision-Making Styles about Hereditary Breast and Ovarian Cancer Risk.

Authors:  Marleah Dean; Emily A Rauscher
Journal:  J Genet Couns       Date:  2017-01-30       Impact factor: 2.537

4.  Patients' preimplantation genetic testing decision-making experience: an opinion on related psychological frameworks.

Authors:  L M Pastore; C N Cordeiro Mitchell; L R Rubin; J Nicoloro-SantaBarbara; M C Genoff Garzon; M Lobel
Journal:  Hum Reprod Open       Date:  2019-10-04
  4 in total

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