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

Abstract

BackgroundSpinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routine screening program for SMA in the UK. Lack of treatments and the inability of screening tests to accurately predict disease severity are among the key reasons implementation of screening has faltered in the UK. With the recent release of the first therapy for SMA (Nusinersen), calls are being made for a reconsideration of this stance; however, very little is known about the views of the general public.MethodsAn online survey was administered to 232 individuals with no prior relationship with SMA to assess their attitudes toward a newborn screening program for it. Results are compared with previously gathered data on the views of SMA‐affected families toward screening.ResultsEighty‐four percent of participants were in favor 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 nonsupport were a belief in the potential for significant negative impact on the family unit in terms of bonding and stress.ConclusionsPublic acceptability is a key component in the evaluation of any potential screening program in the UK. This study demonstrates that newborn screening for SMA is viewed largely positively by people unfamiliar with the condition. The importance of early identification overrode all other social and ethical concerns about screening for the majority of participants.

Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?1

“…Since a number of SMN-dependent and SMNindependent therapies are available [11], the timing of treatment is crucial for a good outcome [12,13] and available data show that presymptomatic treatment is superior to treatment after onset of symptoms [14] experts agree that newborn screening should be established [15,[16][17][18][19][20][21][22][23]. Currently first pilot projects for a genetic NBS in SMA are underway [18,[24][25][26][27][28].…”

Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents’ Perspective on Ataxia Telangiectasia

“…These findings can also be extrapolated to the opinion of the general public. In the United Kingdom, a survey study revealed that 84% of participants from the general public were in favor of NBS for SMA, compared to 70% support among SMA families (25). In the meantime, treatment for SMA became available and in July 2019, the Health Council of the Netherlands deemed SMA to be a suitable candidate to be included in the Dutch NBS program (26).…”

Newborn Screening for SMA - Results After Two Years of a Large Pilot Project 

“…Most parents opted for a screening. In a former study it has been shown that there is a wide acceptance of SMA NBS in the British population 24 . Adding a genetic screening to the NBS had no negative effect on the overall acceptance of NBS.…”