{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T16:44:48Z","timestamp":1790441088812,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,7,13]],"date-time":"2017-07-13T00:00:00Z","timestamp":1499904000000},"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":[],"crossmark-restriction":false},"short-container-title":["Health Expectations"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>Autosomal recessive conditions, while individually rare, are a significant health burden with limited treatment options. Population carrier screening has been suggested as a means of tackling them. Little is known, however, about the attitudes of the general public towards such carrier screening and still less about the views of people living with candidate genetic diseases. Here, we focus on the role that such experience has on screening attitudes by comparing views towards screening of people with and without prior experience of the monogenetic disorder, Spinal Muscular Atrophy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>An exploratory sequential mixed methods design was adopted. In\u2010depth qualitative interviews were used to develop two surveys. The surveys addressed attitudes towards carrier screening (pre\u2010conceptual and prenatal) for <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Participants<\/jats:title><jats:p>337 participants with <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> experience completed the <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> Screening Survey (<jats:styled-content style=\"fixed-case\">UK<\/jats:styled-content>) and 336 participants with no prior experience of <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> completed the <jats:styled-content style=\"fixed-case\">UK<\/jats:styled-content> GenPop Survey, an amended version of the <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> Screening Survey (<jats:styled-content style=\"fixed-case\">UK<\/jats:styled-content>)<jats:bold>.<\/jats:bold><\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The majority of both cohorts were in favour of pre\u2010conception and prenatal carrier screening, however people with experience of type <jats:styled-content style=\"fixed-case\">II SMA<\/jats:styled-content> were least likely to support either. Key differences emerged around perceptions of <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content>, with those without <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> experience taking a dimmer view of the condition than those with.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study underscores the significance of prior experience with the condition to screening attitudes. It highlights the need for accurate and high\u2010quality educational resources to support any future carrier screening programmes, that particularly in relation to rare genetic disorders like <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> that will fall outside the remit of everyday experience for the majority of the population.<\/jats:p><\/jats:sec>","DOI":"10.1111\/hex.12602","type":"journal-article","created":{"date-parts":[[2017,7,13]],"date-time":"2017-07-13T15:56:49Z","timestamp":1499961409000},"page":"201-211","source":"Crossref","is-referenced-by-count":29,"title":["The role of experiential knowledge within attitudes towards genetic carrier screening: A comparison of people with and without experience of spinal muscular atrophy"],"prefix":"10.1111","volume":"21","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":"Philip J.","family":"Young","sequence":"additional","affiliation":[{"name":"School of Life Sciences University of Warwick  Coventry UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Warren","sequence":"additional","affiliation":[{"name":"School of Life Sciences University of Warwick  Coventry UK"}],"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 UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,7,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.43"},{"key":"e_1_2_8_3_1","doi-asserted-by":"crossref","first-page":"1250","DOI":"10.1016\/j.fertnstert.2014.03.006","article-title":"Next\u2010generation sequencing: the dawn of a new era for preimplantation genetic diagnostics","volume":"101","author":"Wells D","year":"2014","journal-title":"Fertil Steril"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102497"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37477"},{"key":"e_1_2_8_6_1","unstructured":"(HGC) THGC. 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