{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:40:48Z","timestamp":1790714448311,"version":"4.1.0"},"reference-count":63,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,12,24]],"date-time":"2018-12-24T00:00:00Z","timestamp":1545609600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Wellcome Trust Society"},{"name":"Ethics Investigator Award","award":["203384\/Z\/16\/Z"],"award-info":[{"award-number":["203384\/Z\/16\/Z"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Members of the public face particular challenges when undergoing reproductive genetic screening. Lack of family history with genetic disease has been identified as a key barrier affecting screening uptake and responses to genetic risk. This study explores this obstacle using beta thalassaemia as a case study. Fifteen in\u2010depth qualitative interviews were conducted exploring the reproductive views and decisions of people at risk of transmitting thalassaemia. Eleven participants had thalassaemia themselves and\/or were members of an affected family. Four participants were identified as thalassaemia carriers through genetic screening programmes with no family history. Notable differences were observed between these two groups. For thalassaemic individuals and families, past experience clarified and facilitated their sense of reproductive responsibility, however carriers struggled to relate to, and incorporate the information into their lives. It was witnessing their child becoming symptomatic\u2014rather than receiving a diagnosis or genetic risk information per se that had the most substantial influence on carriers\u2019 subsequent views and decisions. Educational resources used to support genetic screening programmes would benefit from an engagement with the experiential accounts of life with genetic disease in order to more effectively bridge the chasm in knowledge and understanding between affected families and the general public, towards whom expansive genetic screening is aimed.<\/jats:p>","DOI":"10.1002\/jgc4.1042","type":"journal-article","created":{"date-parts":[[2019,1,10]],"date-time":"2019-01-10T18:10:48Z","timestamp":1547143848000},"page":"141-154","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["<i>\u201cI didn\u2019t take it too seriously because I\u2019d just never heard of it\u201d:<\/i> Experiential knowledge and genetic screening for thalassaemia in the UK"],"prefix":"10.1002","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3268-6276","authenticated-orcid":false,"given":"Felicity K.","family":"Boardman","sequence":"first","affiliation":[{"name":"Warwick Medical School Coventry UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Hale","sequence":"additional","affiliation":[{"name":"Warwick Medical School Coventry UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,12,24]]},"reference":[{"key":"e_1_2_18_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1369-7625.2007.00455.x"},{"key":"e_1_2_18_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-005-1159-6"},{"key":"e_1_2_18_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33122"},{"key":"e_1_2_18_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.134"},{"key":"e_1_2_18_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/13698575.2016.1269878"},{"key":"e_1_2_18_7_1","first-page":"1","article-title":"Perceptions and discourses relating to genetic testing: Interviews with people with Down\u2019s syndrome","author":"Barter B.","year":"2016","journal-title":"Journal of Applied Research in Intellectual Disabilities"},{"key":"e_1_2_18_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37697"},{"key":"e_1_2_18_9_1","first-page":"34","volume-title":"Disability and mothering: Liminal spaces of embodied knowledge","author":"Boardman F.","year":"2011"},{"key":"e_1_2_18_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/1467-9566.12048"},{"key":"e_1_2_18_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.socscimed.2017.09.013"},{"key":"e_1_2_18_12_1","article-title":"Impairment experiences, identity and attitudes towards genetic screening: The views of people with spinal muscular atrophy","author":"Boardman F.","year":"2017","journal-title":"Journal of Genetic Counseling"},{"key":"e_1_2_18_13_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","volume":"00","author":"Boardman F.","year":"2017","journal-title":"Health Expectations"},{"key":"e_1_2_18_14_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00221014"},{"key":"e_1_2_18_15_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1009412025722"},{"key":"e_1_2_18_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.90"},{"key":"e_1_2_18_17_1","unstructured":"Davies S.(2016).Annual report of the Chief Medical Officer 2016: Generation genome. 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