Pre-Conception Genetic Screening for Autosomal Recessive Conditions of Uncertain or Highly Variable Prognosis: Social and Ethical Implications (360G-Wellcome-203384_Z_16_Z)

NHS-funded genetic testing is usually reserved for families with genetic disease. Pre-conception genetic screening (PCGS) will extend this testing to the general public. By providing carrier status information before conception, PCGS will render particular genetic diseases avoidable. This study aims to identify key social/ethical implications of PCGS by focusing on this change in reprogenetic decision-makers: from affected families to the general public. The study utilises surveys of families living with five different genetic disorders (SMA, CAH, CF, Thalassmia, Fragile X) to explore attitudes towards PCGS. Follow-up interviews will analyse the roles medical information and previous experiences play in constructing perceptions of the condition and the ways these get formulated into reproductive attitudes/decisions. This data will then be compared to similar data from people undergoing carrier screening for the conditions, and clinicians delivering it, within the 100,000 Genomes Project. This comparative analysis will highlight differences and similarities in the ways the conditions are imagined and appraised by these groups, each with contrasting types and levels of knowledge about them. Through so-doing, this study will produce an analytic account of the relative importance of experiential and medical knowledge in shaping reprogenetic decisions and attitudes, consequently highlighting key social/ethical implications associated with PCGS.