PDF(Pubmed)
Abstract：
BACKGROUND: Non-invasive prenatal testing (NIPT) has been clinically available in Australia on a user-pays basis since 2012. There are numerous providers, with available tests ranging from targeted NIPT (only trisomies 21, 18, and 13 +/- sex chromosome aneuploidy) to genome-wide NIPT. While NIPT is being implemented in the public health care systems of other countries, in Australia, the implementation of NIPT has proceeded without public funding. The aim of this study was to investigate how NIPT has been integrated into antenatal care across Australia and reveal the successes and challenges in its implementation in this context.
METHODS: An anonymous online survey was conducted from September to October 2022. Invitations to participate were sent to healthcare professionals (HCPs) involved in the provision of NIPT in Australia through professional society mailing lists and networks. Participants were asked questions on their knowledge of NIPT, delivery of NIPT, and post-test management of results.
RESULTS: A total of 475 HCPs responded, comprising 232 (48.8%) obstetricians, 167 (35.2%) general practitioners, 32 (6.7%) midwives, and 44 (9.3%) genetic specialists. NIPT was most commonly offered as a first-tier test, with most HCPs (n = 279; 60.3%) offering it to patients as a choice between NIPT and combined first-trimester screening. Fifty-three percent (n = 245) of respondents always offered patients a choice between NIPT for the common autosomal trisomies and expanded (including genome-wide) NIPT. This choice was understood as supporting patient autonomy and informed consent. Cost was seen as a major barrier to access to NIPT, for both targeted and expanded tests. Equitable access, increasing time demands on HCPs, and staying up to date with advances were frequently reported as major challenges in delivering NIPT.
CONCLUSIONS: Our findings demonstrate substantial variation in the clinical implementation of NIPT in Australia, including in the offers of expanded screening options. After a decade of clinical use, Australian clinicians still report ongoing challenges in the clinical and equitable provision of NIPT.
METHODS: An anonymous online survey was conducted from September to October 2022. Invitations to participate were sent to healthcare professionals (HCPs) involved in the provision of NIPT in Australia through professional society mailing lists and networks. Participants were asked questions on their knowledge of NIPT, delivery of NIPT, and post-test management of results.
RESULTS: A total of 475 HCPs responded, comprising 232 (48.8%) obstetricians, 167 (35.2%) general practitioners, 32 (6.7%) midwives, and 44 (9.3%) genetic specialists. NIPT was most commonly offered as a first-tier test, with most HCPs (n = 279; 60.3%) offering it to patients as a choice between NIPT and combined first-trimester screening. Fifty-three percent (n = 245) of respondents always offered patients a choice between NIPT for the common autosomal trisomies and expanded (including genome-wide) NIPT. This choice was understood as supporting patient autonomy and informed consent. Cost was seen as a major barrier to access to NIPT, for both targeted and expanded tests. Equitable access, increasing time demands on HCPs, and staying up to date with advances were frequently reported as major challenges in delivering NIPT.
CONCLUSIONS: Our findings demonstrate substantial variation in the clinical implementation of NIPT in Australia, including in the offers of expanded screening options. After a decade of clinical use, Australian clinicians still report ongoing challenges in the clinical and equitable provision of NIPT.
摘要：
背景：自2012年以来，非侵入性产前检测（NIPT）已在澳大利亚以用户付费的方式在临床上可用。有许多供应商，可用的测试范围从靶向NIPT（只有21、18和13+/-性染色体非整倍体）到全基因组NIPT。虽然NIPT正在其他国家的公共卫生保健系统中实施，在澳大利亚,NIPT的实施在没有公共资金的情况下进行。这项研究的目的是调查NIPT如何被纳入澳大利亚的产前护理，并揭示在这种情况下实施的成功和挑战。
方法：2022年9月至10月进行了匿名在线调查。通过专业协会的邮件列表和网络，向参与在澳大利亚提供NIPT的医疗保健专业人员（HCP）发出了参与邀请。参与者被问及他们对NIPT的知识，NIPT的交付，和结果的测试后管理。
结果：共有475个HCP做出了回应，由232名(48.8%)产科医生组成，167名(35.2%)全科医生，32名(6.7%)助产士，和44名(9.3%)基因专家。NIPT通常作为第一层测试提供，大多数HCP（n=279；60.3％）将其提供给患者，作为NIPT和联合孕早期筛查的选择。53％（n=245）的受访者总是为患者提供常见常染色体三体的NIPT和扩展（包括全基因组）的NIPT之间的选择。这种选择被理解为支持患者自主权和知情同意。成本被视为进入NIPT的主要障碍，用于有针对性的和扩展的测试。公平准入，对HCP的时间要求越来越高，和保持最新的进展经常被报道为提供NIPT的主要挑战。
结论：我们的研究结果表明，澳大利亚NIPT的临床实施存在很大差异，包括提供扩展的筛选选项。经过十年的临床应用，澳大利亚临床医生仍报告在临床和公平提供NIPT方面面临的挑战。
方法：2022年9月至10月进行了匿名在线调查。通过专业协会的邮件列表和网络，向参与在澳大利亚提供NIPT的医疗保健专业人员（HCP）发出了参与邀请。参与者被问及他们对NIPT的知识，NIPT的交付，和结果的测试后管理。
结果：共有475个HCP做出了回应，由232名(48.8%)产科医生组成，167名(35.2%)全科医生，32名(6.7%)助产士，和44名(9.3%)基因专家。NIPT通常作为第一层测试提供，大多数HCP（n=279；60.3％）将其提供给患者，作为NIPT和联合孕早期筛查的选择。53％（n=245）的受访者总是为患者提供常见常染色体三体的NIPT和扩展（包括全基因组）的NIPT之间的选择。这种选择被理解为支持患者自主权和知情同意。成本被视为进入NIPT的主要障碍，用于有针对性的和扩展的测试。公平准入，对HCP的时间要求越来越高，和保持最新的进展经常被报道为提供NIPT的主要挑战。
结论：我们的研究结果表明，澳大利亚NIPT的临床实施存在很大差异，包括提供扩展的筛选选项。经过十年的临床应用，澳大利亚临床医生仍报告在临床和公平提供NIPT方面面临的挑战。
