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Non-invasive Prenatal Diagnosis for BRCA Mutations – a Qualitative Pilot Study of Health Professionals’ Views

  • Original Research
  • Published:
Journal of Genetic Counseling

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.

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Acknowledgments

The authors would like to acknowledge and thank all the health professionals who took part in this study and the reviewers of this paper for their insightful comments.

Conflict of Interest

The authors Jade Bennett, Lyn Chitty and Celine Lewis declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study. No animal studies were carried out by the authors for this article.

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Authors and Affiliations

  1. UCL Institute of Child Health, London, UK

    Jade Bennett

  2. 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

    Lyn Chitty & Celine Lewis

  3. Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, UK

    Lyn Chitty

Authors
  1. Jade Bennett
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  2. Lyn Chitty
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  3. Celine Lewis
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Correspondence to Celine Lewis.

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Bennett, J., Chitty, L. & Lewis, C. Non-invasive Prenatal Diagnosis for BRCA Mutations – a Qualitative Pilot Study of Health Professionals’ Views. J Genet Counsel 25, 198–207 (2016). https://doi.org/10.1007/s10897-015-9858-0

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  • DOI: https://doi.org/10.1007/s10897-015-9858-0

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