Pre-Conception Genetic Screening Study
Research type
Research Study
Full title
Pre-Conception Genetic Screening for Autosomal Recessive Conditions of Uncertain or Highly Variable Prognosis: Social and Ethical Implications
IRAS ID
225977
Contact name
Felicity Boardman
Contact email
Sponsor organisation
University of Warwick
Duration of Study in the UK
2 years, 7 months, 31 days
Research summary
NHS-funded reprogenetic testing is usually reserved for families with genetic disease, or high risk pregnant women. Through the use of reprogenetic technologies, such as whole genome sequencing (WGS), however, population screening for rare genetic conditions is becoming increasingly possible. Pre-conception genetic screening (PCGS) could render many genetic diseases avoidable by highlighting a person’s carrier status (i.e. whether they could transmit a condition, even if they don’t have it) before a pregnancy is established. This study will identify the key social/ethical implications of PCGS by focusing on this change in reprogenetic decision-maker: from families living with that condition, to members of the general public; highlighting the relative importance of previous experience and medical information in shaping reproductive decisions and attitudes.
The study involves a comparison of views on genetic disease and selective reproduction between two groups:
1) families living with genetic diseases (thalassemia, Cystic Fibrosis, haemophilia and Fragile X): will be recruited through clinics (Cystic Fibrosis) and the support and advisory groups. Data will be collected through qualitative interviews (n=10) and surveys (n=40000), which will explore participants’ experiences with genetic disease, their previous use of reproductive genetic technologies and their attitudes towards the introduction of population level genetic screening for the condition they live with
2) people with no history of those conditions undergoing WGS: The 100,000 Genomes Project aims to sequence the genomes of volunteers who have rare disease or cancer in their family. Volunteers are given the option to discover their carrier status for the various genetic diseases, known as ‘additional findings’. People who accept (n=10) and decline (n=10) these additional findings will be recruited through thirteen regional genetics centres across England to interview them regarding their decision to receive/decline these results. Volunteers identified as carriers (n=2-5) will take part in 3 interviews over 12 months.REC name
West Midlands - Coventry & Warwickshire Research Ethics Committee
REC reference
17/WM/0231
Date of REC Opinion
1 Aug 2017
REC opinion
Further Information Favourable Opinion