{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:23:09Z","timestamp":1781655789073,"version":"3.54.5"},"reference-count":24,"publisher":"CSIRO Publishing","issue":"6","license":[{"start":{"date-parts":[[2025,8,16]],"date-time":"2025-08-16T00:00:00Z","timestamp":1755302400000},"content-version":"vor","delay-in-days":1047,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,8]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The Royal Australian and New Zealand College of Obstetricians and Gynaecologists and The Royal Australian College of General Practice recommend that information on carrier screening for at least the most common inherited genetic conditions in our population, that is, thalassaemia, cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS), should be offered to all women planning pregnancy or in early pregnancy regardless of family history or ethnicity. The aim of this study was to investigate patterns of participation by healthcare providers (HCP) and the community in screening.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Participation in a Victorian program screening for CF, SMA and FXS between September 2013 and October 2018 was analysed. Requesting HCP and patient data were extracted from screening request forms. Data were analysed with respect to profession of requesting HCP, and characteristics of women screened (age, pregnancy status, socioeconomic status, geographic location, and family history of CF, SMA or FXS). In total, 21 172 women and 1288 HCPs participated in the program over this period.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>There was a steep socioeconomic gradient in screening uptake, with nearly half the women screened (10 349) being in the highest socioeconomic quintile. The screening rate was much higher in metropolitan areas than in regional areas. Obstetricians made most of the requests for screening, whereas 20% of requests were by GPs. Most participating GPs only made a single screening request (78%) and very few GPs made &amp;gt;100 screening requests compared with obstetricians (0.2% vs 17%). GPs were more likely to screen women before pregnancy compared with obstetricians (47% vs 11%). Approximately 1.5% of Victorian women of child-bearing age and 3% of pregnant Victorian women were screened by this program over the period of this study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study highlights the translation gap between recommendations and practice, with marked inequity of access to reproductive genetic carrier screening in relation to socioeconomic status and geography. Increased participation by GPs could improve community access to reproductive genetic carrier screening, particularly access to preconception screening. Addressing the causes of inequity of access will allow more women and couples the opportunity to make informed choices about participation in screening.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1071\/py21247","type":"journal-article","created":{"date-parts":[[2022,10,3]],"date-time":"2022-10-03T21:06:12Z","timestamp":1664831172000},"page":"580-587","source":"Crossref","is-referenced-by-count":10,"title":["Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program"],"prefix":"10.1071","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4427-7266","authenticated-orcid":true,"given":"Ruth","family":"Leibowitz","sequence":"first","affiliation":[{"name":"ADepartment of General Practice, University of Melbourne, Melbourne, Vic., Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Lewis","sequence":"additional","affiliation":[{"name":"BDepartment of Paediatrics, Melbourne Medical School, Royal Children\u2019s Hospital, Parkville, Vic., Australia."},{"name":"CMurdoch Children\u2019s Research Institute, Parkville, Vic., Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon","family":"Emery","sequence":"additional","affiliation":[{"name":"DCentre for Cancer Research, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Vic., Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Massie","sequence":"additional","affiliation":[{"name":"EDepartment of Respiratory Medicine, Royal Children\u2019s Hospital, Parkville, Vic., Australia."},{"name":"FChildren\u2019s Bioethics Centre, Parkville, Vic., Australia."},{"name":"GDepartment of Paediatrics, Royal Children\u2019s Hospital, University of Melbourne, Murdoch Children\u2019s Research Institute, Parkville, Vic., Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Smith","sequence":"additional","affiliation":[{"name":"HVictorian Clinical Genetics Services, Parkville, Vic., Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Delatycki","sequence":"additional","affiliation":[{"name":"HVictorian Clinical Genetics Services, Parkville, Vic., Australia."},{"name":"IBruce Lefroy Centre for Genetic Health Research, Murdoch Children\u2019s Research Institute, Flemington Road, Parkville, Vic. 3052 Australia."},{"name":"JDepartment of Paediatrics, University of Melbourne, Parkville, Vic., Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Archibald","sequence":"additional","affiliation":[{"name":"JDepartment of Paediatrics, University of Melbourne, Parkville, Vic., Australia."},{"name":"KVictorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute, Melbourne, Vic., Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"67","published-online":{"date-parts":[[2022,10,4]]},"reference":[{"key":"2025102822075095200_R2","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1017\/S136898001900199X","article-title":"A comparison of the modelled impacts on CVD mortality if attainment of public health recommendations was achieved in metropolitan and rural Australia.","volume":"23","author":"Alston","year":"2020","journal-title":"Public Health Nutrition"},{"key":"2025102822075095200_R3","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1007\/s12687-016-0262-8","article-title":"\u201cIt gives them more options\u201d: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.","volume":"7","author":"Archibald","year":"2016","journal-title":"Journal of Community Genetics"},{"key":"2025102822075095200_R4","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1038\/gim.2017.134","article-title":"Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.","volume":"20","author":"Archibald","year":"2018","journal-title":"Genetics in Medicine"},{"key":"2025102822075095200_R5","unstructured":"Australian Bureau of Statistics (2018a) 2033.0.55.001 \u2013 census of population and housing: socio-economic indexes for areas (SEIFA), Australia, 2016. 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