{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T16:05:03Z","timestamp":1781712303430,"version":"3.54.5"},"reference-count":51,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,23]],"date-time":"2017-11-23T00:00:00Z","timestamp":1511395200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000269","name":"Economic and Social Research Council","doi-asserted-by":"publisher","award":["ES\/K002090\/1"],"award-info":[{"award-number":["ES\/K002090\/1"]}],"id":[{"id":"10.13039\/501100000269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Spinal muscular atrophy (<jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content>) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routine screening program for <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> in the <jats:styled-content style=\"fixed-case\">UK<\/jats:styled-content>. 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 <jats:styled-content style=\"fixed-case\">UK<\/jats:styled-content>. With the recent release of the first therapy for <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> (Nusinersen), calls are being made for a reconsideration of this stance; however, very little is known about the views of the general public.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>An online survey was administered to 232 individuals with no prior relationship with <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> to assess their attitudes toward a newborn screening program for it. Results are compared with previously gathered data on the views of <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content>\u2010affected families toward screening.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eighty\u2010four 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\u2010making 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Public acceptability is a key component in the evaluation of any potential screening program in the <jats:styled-content style=\"fixed-case\">UK<\/jats:styled-content>. This study demonstrates that newborn screening for <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> 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.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.353","type":"journal-article","created":{"date-parts":[[2017,11,23]],"date-time":"2017-11-23T23:22:38Z","timestamp":1511479358000},"page":"99-108","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Newborn genetic screening for spinal muscular atrophy in the <scp>UK<\/scp>: The views of the general population"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3268-6276","authenticated-orcid":false,"given":"Felicity K.","family":"Boardman","sequence":"first","affiliation":[{"name":"Division of Health Sciences Warwick Medical School University of Warwick Coventry UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chloe","family":"Sadler","sequence":"additional","affiliation":[{"name":"School of Life Sciences University of Warwick Coventry UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip J.","family":"Young","sequence":"additional","affiliation":[{"name":"School of Life Sciences University of Warwick Coventry UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,11,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2017.04.015"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-0820"},{"issue":"2","key":"e_1_2_7_4_1","first-page":"S210","article-title":"Phase 2 study design of antisense oligonucleotide nusinersen in presymptomatic infants with spinal muscular atrophy","volume":"26","author":"Bertini E.","year":"2017","journal-title":"Neuromuscular Disorders"},{"key":"e_1_2_7_5_1","unstructured":"Boardman F.(2010).The role of experiential knowledge in the reproductive decision making of families genetically at risk: the case of Spinal Muscular Atrophy University of Warwick: Department of Sociology."},{"key":"e_1_2_7_6_1","first-page":"1","article-title":"The role of experiential knowledge within attitudes towards genetic carrier screening: A comparison of people with and without experience of spinal muscular atrophy","author":"Boardman F.","year":"2017","journal-title":"Health Expectations"},{"key":"e_1_2_7_7_1","article-title":"Impairment experiences, identity and attitudes towards genetic screening: The views of people with spinal muscular atrophy","author":"Boardman F. 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