Pre-conception genetic screening - Musketeer’s Memorandum 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 - Musketeer’s Memorandum study
IRAS ID
226508
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) is a means through which this could occur. 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, PCGS could render many genetic diseases avoidable. 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.
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)
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 six regional genetics centres across England to interview them regarding their decision to receive/decline these results. Their answers will then be compared to interview and survey data from families living with those same conditions. Sequencing volunteers identified as carriers through the Genomes project will remain in the study for 12 months, with follow-up interviews at 6 and 12 months post-result. All other participants will be interviewed once.
Through so-doing, this study will highlight the relative importance of previous experience and medical information in shaping reproductive decisions and attitudes, consequently highlighting key social/ethical implications associated with PCGS.REC name
West Midlands - Coventry & Warwickshire Research Ethics Committee
REC reference
17/WM/0240
Date of REC Opinion
1 Aug 2017
REC opinion
Further Information Favourable Opinion