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

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

Boardman FK;Sadler C;Young PJ

Molecular genetics & genomic medicine

2018

bloodspot;Ethics;Health Knowledge;newborn genetic screening;social implications;spinal muscular atrophy;Adolescent;Adult;Aged;Attitudes;Family;Female;Genetic Testing utilization;Humans;Infant;Internet;Male;Middle Aged;Muscular Atrophy;Neonatal Screening methods;Neuromuscular Diseases genetics;Newborn;Practice;Risk Assessment methods;Spinal diagnosis genetics;Surveys and Questionnaires;United Kingdom epidemiology

BACKGROUND: Spinal 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. METHODS: An 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. RESULTS: Eighty-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. CONCLUSIONS: Public 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.

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November 2018 List