Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population.

摘要: Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there no routinescreening programme for SMA in the UK. Lack treatments, inability screening test to accurately predict disease severity are among key reasons programmes have faltered With recent release first therapy (Nusinersen) calls being made reconsideration this stance, however very little known about views general public. Methods: An online survey was administered 232 individuals with prior relationship assess their attitudes towards newborn it. Results were compared previously gathered data on families. Results: 84% participants favour screening. Key support belief that it would lead better healthcare life expectancy affected infants facilitate informed decision-making future pregnancies. non-support potential significant negative impact family terms bonding stress. Conclusions: Public acceptability component evaluation any This study demonstrates viewed largely positively by people unfamiliar condition. Indeed, centrality early identification overrode all other social ethical concerns screening, majority participants.