Research from the University of Warwick indicates that most people are in favour of newborn screening for the potentially deadly condition spinal muscular atrophy (SMA).
The study Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population has been published in the journal Molecular Genetics & Genomic Medicine.
SMA is an inherited neuromuscular disorder with a wide spectrum of severities and is a leading genetic cause of infant death worldwide. However, there is no routine screening programme for SMA in the UK. This is in spite of the licensing of a new therapy for SMA in December 2016, Nusinersen which is marketed as Spinraza, which has the potential to reduce the severity of the disease when given early in life, before the onset of SMA symptoms. Up until now, however, lack of treatments and the inability of screening tests to accurately predict disease severity have been among the key reasons that the implementation of a screening programme has faltered in the UK.
The research was led by Dr Felicity Boardman of the University’s Warwick Medical School. Dr Boardman said: “With the recent release of the first therapy for SMA, calls are being made internationally for a reconsideration of the current stance on screening; however, very little is known about the views of the general public. We decided to address this gap in evidence by surveying people about their views.”
Dr Boardman, who worked in collaboration with Dr Philip Young in the University’s School of Life Sciences, found that 84% of the 232 members of the public surveyed were in favour of newborn screening. Key reasons for support were a belief that it would lead to better healthcare and life expectancy for affected infants and facilitate informed decision-making for future pregnancies. Key reasons for non-support were a belief in the potential for significant negative impact on the family unit in terms of parent/child bonding and stress, particularly as the child’s prognosis may be difficult to predict at birth.