{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T10:35:38Z","timestamp":1782902138104,"version":"3.54.5"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,10,28]],"date-time":"2016-10-28T00:00:00Z","timestamp":1477612800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"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":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Autosomal recessive conditions are a significant health burden with few treatments. Population carrier screening has been suggested as a means to tackle them. Little is known about the views of affected families despite the potential for direct impacts on them. Data are presented on attitudes among families affected by Spinal Muscular Atrophy (SMA) toward two population screening programs, pre\u2010conception, and prenatal. Data were gathered through qualitative interviews (n\u2009=\u200936) and a survey (n\u2009=\u2009337). Eighty\u2010two survey participants had SMA and 255 were family members. The majority were in favor of screening (75%). Reasons for supporting pre\u2010conception screening support were a belief that it would reduce SMA\u2010related terminations and raise awareness of SMA in the population. For prenatal screening, reasons for support included a belief in the importance of informed decision\u2010making and the need to reduce suffering. Key reasons for non\u2010support of pre\u2010conception screening included concerns about carrier stigmatization and social engineering. For prenatal screening, concerns focused on the collateral loss of high quality of life lives affected by SMA. This study highlights that those affected by SMA are predominantly in favor of screening, although pre\u2010conception screening is most favored. While family members and adults with SMA had largely consistent views, perceptions varied according to the severity (type) of SMA, with those affected by SMA type II the least likely to support screening. These findings suggest that screening for SMA is a complex issue for affected families, underscoring the need to consider and include their views when planning and implementing screening programs. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38031","type":"journal-article","created":{"date-parts":[[2016,10,28]],"date-time":"2016-10-28T16:04:50Z","timestamp":1477670690000},"page":"421-434","source":"Crossref","is-referenced-by-count":37,"title":["Population screening for spinal muscular atrophy: A mixed methods study of the views of affected families"],"prefix":"10.1002","volume":"173","author":[{"given":"Felicity K.","family":"Boardman","sequence":"first","affiliation":[{"name":"Division of Health Sciences Warwick Medical School University of Warwick Coventry United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip J.","family":"Young","sequence":"additional","affiliation":[{"name":"School of Life Sciences University of Warwick Coventry United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances E.","family":"Griffiths","sequence":"additional","affiliation":[{"name":"Division of Health Sciences Warwick Medical School University of Warwick Coventry United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,10,28]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"Pragmatic women and body politics","author":"Abel K","year":"1998"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0277-9536(98)00411-0"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33122"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3001756"},{"key":"e_1_2_8_6_1","unstructured":"BoardmanFK.2010. The role of experiential knowledge in the reproductive decision making of families genetically at risk: The case of Spinal Muscular Atrophy: Warwick; 2010."},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/1467-9566.12048"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)92206-7"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/1467-9566.ep11339939"},{"key":"e_1_2_8_10_1","unstructured":"CartwrightS.2012. 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