{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T02:27:56Z","timestamp":1783132076294,"version":"3.54.6"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,11,6]],"date-time":"2015-11-06T00:00:00Z","timestamp":1446768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Ongoing challenges of clinical assessment of long QT syndrome (LQTS) highlight the importance of genetic testing in the diagnosis of asymptomatic at\u2010risk family members. Effective access, uptake, and communication of genetic testing are critical for comprehensive cascade family screening and prevention of disease complications such as sudden cardiac death. The aim of this study was to describe factors influencing uptake of LQTS genetic testing, including those relating to access and family communication. We show those who access genetic testing are overrepresented by the socioeconomically advantaged, and that although overall family communication is good, there are some important barriers to be addressed. There were 75 participants (aged 18 years or more, with a clinical and\/or genetic diagnosis of LQTS; response rate 71%) who completed a survey including a number of validated scales; demographics; and questions about access, uptake, and communication. Mean age of participants was 46\u2009\u00b1\u200916 years, 20 (27%) were males and 60 (80%) had genetic testing with a causative gene mutation in 42 (70%). Overall uptake of cascade testing within families was 60% after 4 years from proband genetic diagnosis. All participants reported at least one first\u2010degree relative had been informed of their risk, whereas six (10%) reported at least one first\u2010degree relative had not been informed. Those who were anxious or depressed were more likely to perceive barriers to communicating. Genetic testing is a key aspect of care in LQTS families and intervention strategies that aim to improve equity in access and facilitate effective family communication are needed. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37455","type":"journal-article","created":{"date-parts":[[2015,11,7]],"date-time":"2015-11-07T01:22:17Z","timestamp":1446859337000},"page":"418-425","source":"Crossref","is-referenced-by-count":54,"title":["Factors influencing uptake of familial long QT syndrome genetic testing"],"prefix":"10.1002","volume":"170","author":[{"given":"Charlotte","family":"Burns","sequence":"first","affiliation":[{"name":"Agnes Ginges Centre for Molecular Cardiology Centenary Institute Sydney New South Wales Australia"},{"name":"Sydney Medical School University of Sydney Sydney New South Wales Australia"},{"name":"Department of Cardiology Royal Prince Alfred Hospital Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"McGaughran","sequence":"additional","affiliation":[{"name":"Genetic Health Queensland Royal Brisbane and Women's Hospital Brisbane Queensland Australia"},{"name":"School of Medicine University of Queensland Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Cardiology Royal Children's Hospital Melbourne Victoria Australia"},{"name":"Murdoch Children's Research Institute Melbourne Victoria Australia"},{"name":"University of Melbourne Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Semsarian","sequence":"additional","affiliation":[{"name":"Agnes Ginges Centre for Molecular Cardiology Centenary Institute Sydney New South Wales Australia"},{"name":"Sydney Medical School University of Sydney Sydney New South Wales Australia"},{"name":"Department of Cardiology Royal Prince Alfred Hospital Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jodie","family":"Ingles","sequence":"additional","affiliation":[{"name":"Agnes Ginges Centre for Molecular Cardiology Centenary Institute Sydney New South Wales Australia"},{"name":"Sydney Medical School University of Sydney Sydney New South Wales Australia"},{"name":"Department of Cardiology Royal Prince Alfred Hospital Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,11,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2011.05.020"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0215(20000120)89:1<44::AID-IJC8>3.0.CO;2-3"},{"key":"e_1_2_6_4_1","unstructured":"Australian Bureau of Statistics.2008. Information Paper: An introduction to socio\u2010economic indexes for areas (SEIFA). Canberra."},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1037\/0893-3200.22.2.303"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.5694\/j.1326-5377.2009.tb02479.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201206"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0005-7967(01)00092-4"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-014-9710-y"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32915"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.92"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.92"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.78.2.182"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1348\/014466501163904"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2012.10.043"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2007.0037"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.104"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2010.07.038"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-27"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000084778"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2008.01.032"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2009.12.063"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2015.03.070"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181612cc7"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hlc.2008.05.603"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2013.08.036"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2013.06.006"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2011.08.083"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-006-9025-8"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1753-6405.2009.00430.x"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/dyl282"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.annemergmed.2009.01.031"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-012-9544-4"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-013-9609-z"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30104"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.81"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2005.01.7541"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.10010"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.99.4.529"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.292.11.1341"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2013.05.014"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-013-9695-y"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1159\/000350825"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32672"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0195-668X(02)00522-5"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37455","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37455","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T20:05:40Z","timestamp":1696622740000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37455"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,6]]},"references-count":44,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,2]]}},"alternative-id":["10.1002\/ajmg.a.37455"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37455","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,11,6]]}}}