title: Non-invasive Prenatal Diagnosis for BRCA Mutations - a Qualitative Pilot Study of Health Professionals' Views.
abstract: Non-invasive prenatal diagnosis (NIPD) is a rapidly advancing approach that allows diagnostic testing based on analysis of cell free DNA in maternal plasma. This study aimed to explore the views of health professionals regarding the use of NIPD for BRCA1/2 mutations. Qualitative semi-structured interviews were conducted with eight participants. Whilst participants viewed NIPD in general as a positive step forward in prenatal testing, they were cautious about its use for BRCA testing. Significant ethical concerns emerged regarding testing prenatally for an adult onset condition, that is not fully penetrant, and the possibility of abrogating the rights of the future child to genetic autonomy. Nevertheless, participants did identify some situations whereby the test might be beneficial, such as for individuals with very negative and traumatic personal experiences of cancer desiring reassurance or wanting to prevent passing on the condition. NIPD was also seen as having benefits over invasive testing and pre-implantation genetic diagnosis, the only other options currently available to test prenatally for this condition. Exploring the views of a wider range of clinical specialties as well as patients at risk of hereditary breast cancer would be beneficial.
authors.affiliation: UCL Institute of Child Health, London, UK.
authors.forename: Jade
authors.initials: J
authors.lastname: Bennett
authors.affiliation: Clinical and Molecular Genetics, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, Level 5, Barclay House 37 Queen Square, London, WC1N 3BH, UK.|Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, UK.
authors.forename: Lyn
authors.initials: L
authors.lastname: Chitty
authors.affiliation: Clinical and Molecular Genetics, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, Level 5, Barclay House 37 Queen Square, London, WC1N 3BH, UK. celine.lewis@ucl.ac.uk.
authors.forename: Celine
authors.initials: C
authors.lastname: Lewis
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000175:diagnosis; D005260:Female; D019398:Genes, BRCA1; D005820:Genetic Testing / Q000592:standards*; D006282:Health Personnel; D006801:Humans; D010865:Pilot Projects; D011296:Prenatal Diagnosis / Q000592:standards*; D011361:Professional Competence / Q000592:standards*; D036301:Qualitative Research
keywords: BRCA testing; Cell-free fetal DNA; Non-invasive prenatal diagnosis; Qualitative