Carrier Screening: Exploring the Experience in the Fertility Clinic

  • Research type

    Research Study

  • Full title

    Implementation of Expanded Preconception Carrier Screening: Exploring the Ethical, Social and Practical Issues through Experiences of Couples referred for Fertility Treatment and Health Care Professionals Views'.

  • IRAS ID

    203780

  • Contact name

    Juliette Schuurmans

  • Contact email

    js1v15@soton.ac.uk

  • Sponsor organisation

    R&D Department University Hospital Southampton NHS Foundation Trust Southampton General Hospital

  • Clinicaltrials.gov Identifier

    20774 , ERGO (not yet submitted)

  • Duration of Study in the UK

    3 years, 1 months, 20 days

  • Research summary

    Due to new technological developments in genome sequencing it is now possible to screen prospective parents, before pregnancy, for many inheritable diseases which they might pass on to their children.

    This type of screening, expanded preconception carrier screening (PCS) provides prospective parents with information about their risk of being a carrier couple for a severe hereditary disease. If both prospective parents are carriers of the same disease there is a 25% chance of having an affected child in each pregnancy. Couples can use this information for reproductive decision making. When both prospective parents are carriers of the same disease, various options are available to prevent the birth of an affected child such as prenatal testing, using donor gametes, IVF using embryo-selection, accepting the risk, or deciding not to have (more) children.

    Preconception carrier screening could potentially reduce the psychological stress for parents when an affected child is born unexpectedly, and prevent morbidity and mortality for future offspring.

    However, implementation of carrier couple screening also raises several important ethical, social and practical issues. These issues include: who should provide these tests, medicalisation of pregnancy, consent, which diseases to include. Complete Fertility Centre has shown interest in offering a carrier screening test to couples who are referred for fertility treatment. Since it is important to know how both patients and professionals view this new test-offer, we propose a qualitative study, using interviews (parents)and focus groups (healthcare professionals),to explore the ethical, social and practical issues of PCS as part of fertility treatment. The study will be part of a fully funded PhD project that focuses on preconception carrier screening in various populations. This project will built on the experience gained from an implementation study of carrier screening to couples from the general population in the Netherlands.

  • REC name

    London - City & East Research Ethics Committee

  • REC reference

    16/LO/1966

  • Date of REC Opinion

    24 Oct 2016

  • REC opinion

    Favourable Opinion