Uptake of publicly-funded reproductive genetic carrier screening in Australia

Uptake of publicly-funded reproductive genetic carrier screening in Australia | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Short Report Uptake of publicly-funded reproductive genetic carrier screening in Australia Kathryn Shearer, Lisa Hui This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-8537045/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Reproductive genetic carrier screening (RGCS) for cystic fibrosis, spinal muscular atrophy and fragile X syndrome was added to Australia’s Medicare Benefits Scheme in November 2023. We analysed national uptake of publicly funded RGCS and compared testing volumes with birth numbers from November 2023 to August 2025. During this period, 206,321 patient tests and 7,554 partner tests were performed. In 2024, 112,644 patient tests were billed, equivalent to 38.5% of registered births. Partner testing accounted for 3.7% of patient tests, consistent with expected carrier frequencies for autosomal recessive conditions. These findings demonstrate rapid and sustained uptake of publicly funded three-gene RGCS. Obstetrics & Gynecology Genetic Carrier Screening Cystic fibrosis Fragile X Syndrome Spinal muscular atrophy Reproductive health Figures Figure 1 Full Text Reproductive genetic carrier screening (RGCS) is a population-based screening approach that identifies individuals or couples who carry pathogenic variants associated with inherited conditions that may affect their offspring, thereby enabling informed reproductive decision-making. RGCS is offered to individuals planning pregnancy or in early pregnancy, regardless of family history. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG), the Royal Australian College of General Practitioners (RACGP) and the Royal College of Pathologists of Australasia (RCPA) recommend that individuals planning or currently pregnant be offered RGCS for cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS). 1,2,3 Approximately 1 in 20 Australians undergoing screening are carriers of at least one of these conditions. 4 For the purposes of RGCS, the Medicare Benefits Scheme (MBS) defines the ‘patient’ as the person who is pregnant or planning pregnancy, and ‘partner’ as the reproductive partner of the patient. 5,6 CF and SMA are autosomal recessive conditions, therefore screening of both reproductive partners is required to determine couple’s risk profile. FXS is an X-linked condition and therefore partner testing is not required. Screening for autosomal recessive conditions can be offered as ‘couple’ screening, in which both individuals are tested simultaneously, or ‘sequential’ screening, in which the patient is tested first, and the partner only tested if the patient identified as a carrier. 1 Couple screening provides a faster risk assessment for the pregnancy, but requires more individual tests than sequential testing. As socioeconomic disadvantage has been associated with lower uptake of RGCS, publicly funded testing is essential to support equity of access and informed reproductive decision-making. 7,8,9 In November 2023, the RGCS for these three conditions was added to the MBS, providing publicly-funded RGCS for the general population for the first time in Australia. 1,5,6 These items are provided in a sequential testing model under the MBS Items 73451 (patient) and 73452 (partner) and can be claimed once per lifetime. 5.6 The aim of this study was to assess the national uptake of RGCS following introduction of these MBS items numbers, determine rate of partner testing as a proxy measure for positive couple carrier rates, and compare RGCS volumes with national birth numbers in 2024. We obtained and analysed the number of patient and partner tests conducted under MBS Items 73451 and 73452 respectively, from November 2023 until August 2025 via the Medicare Item Reports webapge. 10 MBS Item 73451 refers to “testing of a patient (who is pregnant or planning pregnancy) to identify carrier status for pathogenic or likely pathogenic variants” for three genes CFTR , SMN1 and FMR1 associated with reproductive risk of CF, SMA and FXS respectively. 5 MBS Item 73452 is for “testing of the reproductive partner of a patient who has been found to be a carrier of pathogenic or likely pathogenic variant in the CFTR or SMN1 gene identified by testing under item 73451”. 6 We compared patient and partner test numbers to estimate the positive screen rate for SMA and CF, acknowledging that partner testing is an indirect proxy for carrier detection. Birth numbers were obtained from the Australian Bureau of Statistics and compared with national RGCS uptake. 11 While not all individuals undergoing testing will be pregnant or give birth in the same year, we used the birth rate as a proxy for the number of people planning pregnancy per year, acknowledging that this approach underestimates the total population eligible for screening. From November 2023 to August 2025 inclusive, a total of 206,321 patient carrier screening tests were performed under Medicare Item 73451 (Figure 1a). During the same period, 7,554 partner tests were performed, representing 3.66% of patient tests overall. Figure 1b demonstrates the monthly MBS billing for Item Numbers 73451 (patient tests) and 73452 (partner tests). Although the proportion of partner tests varied monthly, the average rate over the study period was 3.47%, with a peak of 5.06% in June 2025 from a baseline of 0.35% in November 2023. The initially lower numbers may reflect the time lag between initial patient testing and subsequent partner testing following implementation of MBS items. In the 12-month period from August 2024 to August 2025, the average monthly patient and partner tests were 10,408 and 407, respectively, corresponding to an estimated positive screen rate for CV and/or SMA of 3.91%. In 2024, Australia recorded 292,318 births. During the same year, 112,644 RGCS patient tests were billed to the MBS nationwide, equivalent to 38.53% of registered births. In the same year, 4,116 partner tests were performed, equivalent to 1.41% of registered births. Although not all individuals undergoing RGCS in 2024 would be expected to give birth in the same year, these figures provide context for interpreting population-level utilization of RGCS. Table 1 presents test rates compared with registered birth rates by State and Territory, with the highest proportion observed in South Australia and the lowest in the Northern Territory. Table 1 : 2024 Births and Medicare Benefits Schedule billings for reproductive genetic carrier screening by state and territory. NSW VIC QLD SA WA TAS ACT NT AUS Total Births 86,978 82,328 58,986 18,516 30,516 5,483 6,017 3,484 292,318 Patient Tests 35,649 30,431 19,220 9,914 12,097 1,954 2,342 1,037 112,644 Partner Tests 1,254 1,153 686 376 473 65 77 32 4,116 Patient tests per birth (%) 40.99 36.96 32.58 53.54 39.64 35.64 38.92 29.76 38.53 Partner tests per patient test (%) 3.52 3.79 3.57 3.79 3.91 3.33 3.29 3.09 3.65 Number of registered births according to the Australian Bureau of statistics 11 and number of patient and partner reproductive genetic carrier screening tests based on Medicare Benefit Schedule billings, using MBS items 73451 and 73452 from January 2024 to December 2024 Limited data exists on rates of RGCS prior to the introduction of these MBS items. One national study estimated that 1.4% of Australians having preconception or early pregnancy care accessed RGCS. 8 In Victoria, it was previously estimated that 1.5% of women of reproductive age and 3% of pregnant women accessed RGCS from 2013-18. 9 Our present study demonstrates a rapid and sustained uptake of RGCS following the introduction of MBS Items 73451 and 73452 in November 2023. A cumulative total of over 200,000 MBS funded patient tests have been performed, including more than 10,000 patient tests per month over the past year. An eventual plateau is expected due to the ‘once-in-a-lifetime’ nature of the test and access to MBS items. Equitable access remains a key tenet of our health system. Publicly funding RGCS may help reduce financial barriers to access, as low socioeconomic status has been associated with decreased screening uptake. 7,8,9 Although not every test corresponds to a registered birth or equates to the number of individuals planning pregnancy, our results suggest regional differences in utilisation of RGCS between states. This may be a result of a number of factors including awareness and referral practices in primary care. Online education may help address this, as it has been demonstrated to facilitate informed decisions around RGCS, including pre-test counselling. 7,12 Furthermore, community support for RGCS has been shown to be strong, with satisfaction rates remaining high regardless of screening results. 7 The rapid and sustained uptake observed in this study is consistent with these findings and suggests similar community values regarding informed reproductive choices. Based on the proportion of partner tests relative to patient tests, our estimated 3.66% carrier rate for CF and/or SMA is broadly consistent with prior Australian data reporting a 5% positive screen rate for three-gene panel screening including FXS. 4 Our estimate may be lower due to the exclusion of FXS and incomplete partner testing, which may occur because of delayed testing, partners declining testing, or patients undergoing screening in the absence of a reproductive partner. Despite the apparent success of publicly-funded RGCS, MBS item numbers alone do not create a functional population screening program. A nationally coordinated program is required to evaluate the clinical, societal and economic impact of publicly funded RGCS, and support equity of access. Recommendations from Australian Genomics (2025) for a National RGCS program include: providing pathways for self-referral, creating a secure, centralised digital platform and a national registry, as well as implementing a national education strategy for key stakeholders. 12 They also advocate for national funding and equitable delivery of genetic counselling, prenatal diagnostic testing and in vitro fertilisation with pre-implantation genetic testing. Alongside the rapid uptake of three-gene screening, the results of Mackenzie’s Mission 4 have prompted increasing interest in expanded (or large-panel) RGCS, reflecting the potential to further enhance informed reproductive choice within a population screening context.Such measures may further enhance equitable access to more advanced forms of RGCS and informed reproductive choices. References Royal Australian and New Zealand College of Obstetricians and Gynaecologists. Genetic Carrier Screening. Clinical Guideline. RANZCOG (2019) (updated 2024) Royal Australian College of General Practitioners (2023) Genomics in General Practice. Clinical Guideline. RACGP Royal College of Pathologists Australasia (2024) Guidelines for Reproductive Genetic Carrier Screening For Cystic Fibrosis, Fragile X Syndrome and Spinal Muscular Atrophy. Version 1. RCPA Archibald AD, Smith MJ, Burgess T et al (2018) Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med 20(5):513–523. 10.1038/gim.2017.134 Australian Government Department of Health, Disability and Ageing MBS Online Medicare Benefits Schedule . [Access 13th October 2025] Available from: https://www9.health.gov.au/mbs/fullDisplay.cfm?type=item&q=73451&qt=item&criteria=73451 Australian Government Department of Health, Disability and Ageing MBS Online Medicare Benefits Schedule . [Access 13th October 2025] Available from: https://www9.health.gov.au/mbs/fullDisplay.cfm?type=item&q=73452&qt=ItemID Kirk EP, Delatycki MB, Archibald AD et al (2024) Nationwide, Couple-Based Genetic Carrier Screening. N Engl J Med 391(20):1877–1889. 10.1056/NEJMoa2314768 Robson SJ, Caramins M, Saad M, Suthers G (2020) Socioeconomic status and uptake of reproductive carrier screening in Australia. Aust N Z J Obstet Gynaecol 60(6):976–979. 10.1111/ajo.13206 Leibowitz R, Lewis S, Emery J et al (2022) 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. Aust J Prim Health 28(6):580–587. 10.1071/PY21247 Australian Government Services Australia Medicare Item Reports. [Accessed 26 October 2025] Available from: https://medicarestatistics.humanservices.gov.au/statistics/mbs_item.html Australian Bureau of Statistics, Births Australia. [Accessed 26 October 2025] Available from: https://www.abs.gov.au/statistics/people/population/births-australia/latest-release Archibald A, Boggs K, Delatycki M et al (2025) June Expanding the Scope of Reproductive Genetic Carrier Screening – Towards a National Screening Program. Australian Genomics . Available from: https://www.australiangenomics.org.au/wp-content/uploads/2025/09/Australian-Genomics_Expanding-the-Scope-of-Reproductive-Genetic-Carrier-Screening-Towards-a-National-Screening-Program_June-2025.pdf Additional Declarations The authors declare no competing interests. Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-8537045","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Short Report","associatedPublications":[],"authors":[{"id":570569428,"identity":"38c488aa-a05e-4dc5-a831-b339ef7bc662","order_by":0,"name":"Kathryn Shearer","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA9ElEQVRIiWNgGAWjYBACCQh1AEJ9gDHwa2FGaGGcQbIWZh5itEi2nz/4gOHPHTn+2YePfbbdcYeBX/r4BYafbbi1SPMkMxswtj0zljiXljw798wzBsm+nALGXjxa5BiS2SQYGw4nNpzhMWbObTvMYHCGJ4GBF58W/sfsPxj+HK6ff4b/M7MlVAvjX3wOk0hmY2BgO5wAVMnMzAjWwn6AGZ8tkjMeG0skth023HiGzRjohcM8kj08DIdlzuHWInE+8eGHD38Oy8udYX4MDKjDcvw87A8fvinDrQUMEpDYPEBkcICABgzA/oBUHaNgFIyCUTC8AQA6qU+C6FwJqgAAAABJRU5ErkJggg==","orcid":"https://orcid.org/0009-0005-5374-100X","institution":"","correspondingAuthor":true,"prefix":"","firstName":"Kathryn","middleName":"","lastName":"Shearer","suffix":""},{"id":570569429,"identity":"e24bcded-a64f-4ff8-9f37-52825f957c0d","order_by":1,"name":"Lisa Hui","email":"","orcid":"","institution":"","correspondingAuthor":false,"prefix":"","firstName":"Lisa","middleName":"","lastName":"Hui","suffix":""}],"badges":[],"createdAt":"2026-01-07 05:28:32","currentVersionCode":1,"declarations":{"humanSubjects":true,"vertebrateSubjects":false,"conflictsOfInterestStatement":false,"humanSubjectEthicalGuidelines":true,"humanSubjectConsent":true,"humanSubjectClinicalTrial":false,"humanSubjectCaseReport":false,"vertebrateSubjectEthicalGuidelines":false},"doi":"10.21203/rs.3.rs-8537045/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-8537045/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":105573110,"identity":"4035a812-9830-45ac-9f78-513e6e52a172","added_by":"auto","created_at":"2026-03-27 13:30:47","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":540009,"visible":true,"origin":"","legend":"\u003cp\u003e(a) Accumulated national Medicare Benefits Schedule billings from November 2023 to August 2025 for item 73451, patient testing for three-panel reproductive genetic carrier screening (b) Monthly national Medicare Benefits Schedule billings from November 2023 to August 2025 for item 73451, patient testing for three-panel reproductive genetic carrier screening\u003c/p\u003e","description":"","filename":"Picture1.png","url":"https://assets-eu.researchsquare.com/files/rs-8537045/v1/34a353f5b0c7265c13661bd0.png"},{"id":105575288,"identity":"e4aa6ec4-8668-43a8-85e4-33e1c65b0ed4","added_by":"auto","created_at":"2026-03-27 13:37:56","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":842522,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-8537045/v1/4d20119f-d6d8-4401-b9cd-58d730580935.pdf"}],"financialInterests":"The authors declare no competing interests.","formattedTitle":"\u003cp\u003eUptake of publicly-funded reproductive genetic carrier screening in Australia\u003c/p\u003e","fulltext":[{"header":"Full Text","content":"\u003cp\u003eReproductive genetic carrier screening (RGCS) is a population-based screening approach that identifies individuals or couples who carry pathogenic variants associated with inherited conditions that may affect their offspring, thereby enabling informed reproductive decision-making. RGCS is offered to individuals planning pregnancy or in early pregnancy, regardless of family history. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG), the Royal Australian College of General Practitioners (RACGP) and the Royal College of Pathologists of Australasia (RCPA) recommend that individuals planning or currently pregnant be offered RGCS for cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS).\u003csup\u003e1,2,3\u003c/sup\u003e Approximately 1 in 20 Australians undergoing screening are carriers of at least one of these conditions.\u003csup\u003e4\u003c/sup\u003e\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eFor the purposes of RGCS, the Medicare Benefits Scheme (MBS) defines the \u0026lsquo;patient\u0026rsquo; as the person who is pregnant or planning pregnancy, and \u0026lsquo;partner\u0026rsquo; as the reproductive partner of the patient.\u003csup\u003e5,6\u0026nbsp;\u003c/sup\u003eCF and SMA are autosomal recessive conditions, therefore screening of both reproductive partners is required to determine couple\u0026rsquo;s risk profile. FXS is an X-linked condition and therefore partner testing is not required. \u0026nbsp; Screening for autosomal recessive conditions can be offered as \u0026lsquo;couple\u0026rsquo; screening, in which both individuals are tested simultaneously, or \u0026lsquo;sequential\u0026rsquo; screening, in which the patient is tested first, and the partner only tested if the patient identified as a carrier.\u003csup\u003e1\u003c/sup\u003e Couple screening provides a faster risk assessment for the pregnancy, but requires more individual tests than sequential testing.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eAs socioeconomic disadvantage has been associated with lower uptake of RGCS, publicly funded testing is essential to support equity of access and informed reproductive decision-making.\u003csup\u003e7,8,9\u0026nbsp;\u003c/sup\u003eIn November 2023, the RGCS for these three conditions was added to the MBS, providing publicly-funded RGCS for the general population for the first time in Australia.\u003csup\u003e1,5,6\u003c/sup\u003e These items are provided in a sequential testing model under the MBS Items 73451 (patient) and 73452 (partner) and can be claimed once per lifetime.\u003csup\u003e5.6\u003c/sup\u003e\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eThe aim of this study was to assess the national uptake of RGCS following introduction of these MBS items numbers, determine rate of partner testing as a proxy measure for positive couple carrier rates, and compare RGCS volumes with national birth numbers in 2024.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eWe obtained and analysed the number of patient and partner tests conducted under MBS Items 73451 and 73452 respectively, \u0026nbsp;from November 2023 until August 2025 via the Medicare Item Reports webapge.\u003csup\u003e10\u003c/sup\u003e MBS Item 73451 refers to \u0026ldquo;testing of a patient (who is pregnant or planning pregnancy) to identify carrier status for pathogenic or likely pathogenic variants\u0026rdquo; for three genes \u003cem\u003eCFTR\u003c/em\u003e, \u003cem\u003eSMN1\u003c/em\u003e and \u003cem\u003eFMR1\u003c/em\u003e associated with reproductive risk of CF, SMA and FXS respectively.\u003csup\u003e5\u003c/sup\u003e MBS Item 73452 is for \u0026ldquo;testing of the reproductive partner of a patient who has been found to be a carrier of pathogenic or likely pathogenic variant in the CFTR or SMN1 gene identified by testing under item 73451\u0026rdquo;.\u003csup\u003e6\u003c/sup\u003e We compared patient and partner test numbers to estimate the positive screen rate for SMA and CF, acknowledging that partner testing is an indirect proxy for carrier detection. Birth numbers were obtained from the Australian Bureau of Statistics and compared with national RGCS uptake.\u003csup\u003e11\u003c/sup\u003e While not all individuals undergoing testing will be pregnant or give birth in the same year, we used the birth rate as a proxy for the number of people planning pregnancy per year, acknowledging that this approach underestimates the total population eligible for screening.\u003c/p\u003e\n\u003cp\u003eFrom November 2023 to August 2025 inclusive, a total of 206,321 patient carrier screening tests were performed under Medicare Item 73451 (Figure 1a). During the same period, 7,554 partner tests were performed, representing 3.66% of patient tests overall. Figure 1b demonstrates the monthly MBS billing for Item Numbers 73451 (patient tests) and 73452 (partner tests). Although the proportion of partner tests varied monthly, the average rate over the study period was 3.47%, with a peak of 5.06% in June 2025 from a baseline of 0.35% in November 2023. The initially lower numbers may reflect the time lag between initial patient testing and subsequent partner testing following implementation of MBS items. In the 12-month period from August 2024 to August 2025, the average monthly patient and partner tests were 10,408 and 407, respectively, corresponding to an estimated positive screen rate for CV and/or SMA of 3.91%.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eIn 2024, Australia recorded 292,318 births. During the same year, 112,644 RGCS patient tests were billed to the MBS nationwide, equivalent to 38.53% of registered births. In the same year, 4,116 partner tests were performed, equivalent to 1.41% of registered births. Although not all individuals undergoing RGCS in 2024 would be expected to give birth in the same year, these figures provide context for interpreting population-level utilization of RGCS. Table 1 presents test rates compared with registered birth rates by State and Territory, with the highest proportion observed in South Australia and the lowest in the Northern Territory.\u003c/p\u003e\n\u003ctable border=\"1\" cellspacing=\"0\" cellpadding=\"0\" width=\"729\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"10\" valign=\"top\"\u003e\n \u003cp\u003e\u003cstrong\u003eTable 1\u003c/strong\u003e: 2024 Births and Medicare Benefits Schedule billings for reproductive genetic carrier screening by state and territory.\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\"\u003e\u003cbr\u003e\u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003eNSW\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003eVIC\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003eQLD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003eSA\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003eWA\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003eTAS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003eACT\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003eNT\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003eAUS\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd\u003e\n \u003cp\u003eTotal Births\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e86,978\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e82,328\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e58,986\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e18,516\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e30,516\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e5,483\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e6,017\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e3,484\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e292,318\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd\u003e\n \u003cp\u003ePatient Tests\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e35,649\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e30,431\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e19,220\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e9,914\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e12,097\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e1,954\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e2,342\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e1,037\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e112,644\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd\u003e\n \u003cp\u003ePartner Tests\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e1,254\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e1,153\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e686\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e376\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e473\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e65\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e77\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e32\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e4,116\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd\u003e\n \u003cp\u003ePatient tests per birth (%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e40.99\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e36.96\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e32.58\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e53.54\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e39.64\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e35.64\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e38.92\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e29.76\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e38.53\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd\u003e\n \u003cp\u003ePartner tests per patient test (%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e3.52\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e3.79\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e3.57\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e3.79\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e3.91\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e3.33\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e3.29\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e3.09\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"bottom\"\u003e\n \u003cp\u003e3.65\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"10\"\u003e\n \u003cp\u003eNumber of registered births according to the Australian Bureau of statistics\u003csup\u003e11\u003c/sup\u003e and number of patient and partner reproductive genetic carrier screening tests based on Medicare Benefit Schedule billings, using MBS items 73451 and 73452 from January 2024 to December 2024\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n\u003c/table\u003e\n\u003cp\u003eLimited data exists on rates of RGCS prior to the introduction of these MBS items. One national study estimated that 1.4% of Australians having preconception or early pregnancy care accessed RGCS.\u003csup\u003e8\u003c/sup\u003e In Victoria, it was previously estimated that 1.5% of women of reproductive age and 3% of pregnant women accessed RGCS from 2013-18.\u003csup\u003e9\u003c/sup\u003e Our present study demonstrates a rapid and sustained uptake of RGCS following the introduction of MBS Items 73451 and 73452 in November 2023. \u0026nbsp; A cumulative total of over 200,000 MBS funded patient tests have been performed, including more than 10,000 patient tests per month over the past year. An eventual plateau is expected due to the \u0026lsquo;once-in-a-lifetime\u0026rsquo; nature of the test and access to MBS items.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eEquitable access remains a key tenet of our health system. Publicly funding RGCS may help reduce financial barriers to access, as low socioeconomic status has been associated with decreased screening uptake.\u003csup\u003e7,8,9\u003c/sup\u003e Although not every test corresponds to a registered birth or equates to the number of individuals planning pregnancy, our results suggest regional differences in utilisation of RGCS between states. This may be a result of a number of factors including awareness and referral practices in primary care. Online education may help address this, as it has been demonstrated to facilitate informed decisions around RGCS, including pre-test counselling.\u003csup\u003e7,12\u003c/sup\u003e Furthermore, community support for RGCS has been shown to be strong, with satisfaction rates remaining high regardless of screening results.\u003csup\u003e7\u003c/sup\u003e The rapid and sustained uptake observed in this study is consistent with these findings and suggests similar community values regarding informed reproductive choices.\u003c/p\u003e\n\u003cp\u003eBased on the proportion of partner tests relative to patient tests, our estimated 3.66% carrier rate for CF and/or SMA is broadly consistent with prior Australian data reporting a 5% positive screen rate for three-gene panel screening including FXS.\u003csup\u003e4\u0026nbsp;\u003c/sup\u003eOur estimate may be lower due to the exclusion of FXS and incomplete partner testing, which may occur because of delayed testing, partners declining testing, or patients undergoing screening in the absence of a reproductive partner.\u003c/p\u003e\n\u003cp\u003eDespite the apparent success of publicly-funded RGCS, MBS item numbers alone do not create a functional population screening program. A nationally coordinated program is required to evaluate the clinical, societal and economic impact of publicly funded RGCS, and support equity of access. Recommendations from Australian Genomics (2025) for a National RGCS program include: providing pathways for self-referral, creating a secure, centralised digital platform and a national registry, as well as implementing a national education strategy for key stakeholders.\u003csup\u003e12\u003c/sup\u003e They also advocate for national funding and equitable delivery of genetic counselling, prenatal diagnostic testing and in vitro fertilisation with pre-implantation genetic testing.\u0026nbsp;Alongside the rapid uptake of three-gene screening, the results of\u0026nbsp;\u003cem\u003eMackenzie\u0026rsquo;s Mission\u003c/em\u003e\u003csup\u003e4\u003c/sup\u003e have prompted increasing interest in expanded (or large-panel) RGCS, reflecting the potential to further enhance informed reproductive choice within a population screening context.Such measures may further enhance equitable access to more advanced forms of RGCS and informed reproductive choices. \u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eRoyal Australian and New Zealand College of Obstetricians and Gynaecologists. Genetic Carrier Screening. Clinical Guideline. RANZCOG (2019) (updated 2024)\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eRoyal Australian College of General Practitioners (2023) Genomics in General Practice. Clinical Guideline. RACGP\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eRoyal College of Pathologists Australasia (2024) Guidelines for Reproductive Genetic Carrier Screening For Cystic Fibrosis, Fragile X Syndrome and Spinal Muscular Atrophy. Version 1. RCPA\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eArchibald AD, Smith MJ, Burgess T et al (2018) Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med 20(5):513\u0026ndash;523. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1038/gim.2017.134\u003c/span\u003e\u003cspan address=\"10.1038/gim.2017.134\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eAustralian Government Department of Health, Disability and Ageing \u003cem\u003eMBS Online Medicare Benefits Schedule\u003c/em\u003e. [Access 13th October 2025] Available from: \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://www9.health.gov.au/mbs/fullDisplay.cfm?type=item\u0026amp;q=73451\u0026amp;qt=item\u0026amp;criteria=73451\u003c/span\u003e\u003cspan address=\"https://www9.health.gov.au/mbs/fullDisplay.cfm?type=item\u0026amp;q=73451\u0026amp;qt=item\u0026amp;criteria=73451\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eAustralian Government Department of Health, Disability and Ageing \u003cem\u003eMBS Online Medicare Benefits Schedule\u003c/em\u003e. [Access 13th October 2025] Available from: \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://www9.health.gov.au/mbs/fullDisplay.cfm?type=item\u0026amp;q=73452\u0026amp;qt=ItemID\u003c/span\u003e\u003cspan address=\"https://www9.health.gov.au/mbs/fullDisplay.cfm?type=item\u0026amp;q=73452\u0026amp;qt=ItemID\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eKirk EP, Delatycki MB, Archibald AD et al (2024) Nationwide, Couple-Based Genetic Carrier Screening. N Engl J Med 391(20):1877\u0026ndash;1889. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1056/NEJMoa2314768\u003c/span\u003e\u003cspan address=\"10.1056/NEJMoa2314768\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eRobson SJ, Caramins M, Saad M, Suthers G (2020) Socioeconomic status and uptake of reproductive carrier screening in Australia. Aust N Z J Obstet Gynaecol 60(6):976\u0026ndash;979. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1111/ajo.13206\u003c/span\u003e\u003cspan address=\"10.1111/ajo.13206\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eLeibowitz R, Lewis S, Emery J et al (2022) 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. Aust J Prim Health 28(6):580\u0026ndash;587. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1071/PY21247\u003c/span\u003e\u003cspan address=\"10.1071/PY21247\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eAustralian Government Services Australia Medicare Item Reports. [Accessed 26 October 2025] Available from: \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://medicarestatistics.humanservices.gov.au/statistics/mbs_item.html\u003c/span\u003e\u003cspan address=\"https://medicarestatistics.humanservices.gov.au/statistics/mbs_item.html\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eAustralian Bureau of Statistics, Births Australia. [Accessed 26 October 2025] Available from: \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://www.abs.gov.au/statistics/people/population/births-australia/latest-release\u003c/span\u003e\u003cspan address=\"https://www.abs.gov.au/statistics/people/population/births-australia/latest-release\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eArchibald A, Boggs K, Delatycki M et al (2025) June Expanding the Scope of Reproductive Genetic Carrier Screening \u0026ndash; Towards a National Screening Program. \u003cem\u003eAustralian Genomics\u003c/em\u003e. Available from: \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://www.australiangenomics.org.au/wp-content/uploads/2025/09/Australian-Genomics_Expanding-the-Scope-of-Reproductive-Genetic-Carrier-Screening-Towards-a-National-Screening-Program_June-2025.pdf\u003c/span\u003e\u003cspan address=\"https://www.australiangenomics.org.au/wp-content/uploads/2025/09/Australian-Genomics_Expanding-the-Scope-of-Reproductive-Genetic-Carrier-Screening-Towards-a-National-Screening-Program_June-2025.pdf\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":true,"hideJournal":true,"highlight":"","institution":"Northern Health","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Genetic Carrier Screening, Cystic fibrosis, Fragile X Syndrome, Spinal muscular atrophy, Reproductive health","lastPublishedDoi":"10.21203/rs.3.rs-8537045/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-8537045/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eReproductive genetic carrier screening (RGCS) for cystic fibrosis, spinal muscular atrophy and fragile X syndrome was added to Australia’s Medicare Benefits Scheme in November 2023. We analysed national uptake of publicly funded RGCS and compared testing volumes with birth numbers from November 2023 to August 2025. During this period, 206,321 patient tests and 7,554 partner tests were performed. In 2024, 112,644 patient tests were billed, equivalent to 38.5% of registered births. Partner testing accounted for 3.7% of patient tests, consistent with expected carrier frequencies for autosomal recessive conditions. These findings demonstrate rapid and sustained uptake of publicly funded three-gene RGCS.\u003c/p\u003e","manuscriptTitle":"Uptake of publicly-funded reproductive genetic carrier screening in Australia","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2026-03-27 13:04:15","doi":"10.21203/rs.3.rs-8537045/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"a691a594-7389-4d2a-8910-94ae7aa9d6e4","owner":[],"postedDate":"March 27th, 2026","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[{"id":60714792,"name":"Obstetrics \u0026 Gynecology"}],"tags":[],"updatedAt":"2026-03-27T13:04:15+00:00","versionOfRecord":[],"versionCreatedAt":"2026-03-27 13:04:15","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-8537045","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-8537045","identity":"rs-8537045","version":["v1"]},"buildId":"XKTyCvWXoU3ODBz1xrDgd","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}