Nisselle Amy, Macciocca Ivan, McKenzie Fiona, Vuong Hannah, Dunlop Kate, McClaren Belinda, Metcalfe Sylvia, Gaff Clara
Australian Genomics Health Alliance, Melbourne, VIC, Australia.
Genetics Education & Health Research, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
J Genet Couns. 2019 Apr;28(2):367-377. doi: 10.1002/jgc4.1101. Epub 2019 Feb 19.
We aimed to determine capacity and readiness of Australian clinical genetic healthcare professionals to provide genomic medicine. An online survey was administered to individuals with genetic counseling or clinical genetics qualifications in Australia. Data collected included: education, certification, continuing professional development (CPD), employment, and genetic versus genomic clinical practice. Of the estimated 630 clinical genetic healthcare professionals in Australia, 354 completed the survey (56.2% response rate). Explanatory interviews were conducted with 5.5% of the genetic counselor respondents. Those working clinically reported being involved in aspects of whole exome or genome sequencing (48.6% genetic counselors, 88.6% clinical geneticists). Most genetic counselors (74.2%) and clinical geneticists (87.0%) had attended genomics CPD in the last two years, with 61.0% and 39.1% self-funding, respectively. Genetic counselors desire broad involvement in genomics, including understanding classifying and interpreting results to better counsel patients. The majority of respondents (89.9%) were satisfied with their job and 91.6% planned to work in genetics until retirement. However, 14.1% of the genetic counselors in clinical roles and 24.6% of the clinical geneticists planned to retire within 10 years. This is the first national audit of clinical genetic healthcare professionals, revealing the Australian workforce is motivated and prepared to embrace new models to deliver genomic medicine but consideration of education and training is required to meet demand.
我们旨在确定澳大利亚临床遗传保健专业人员提供基因组医学的能力和准备情况。对澳大利亚具有遗传咨询或临床遗传学资质的人员进行了一项在线调查。收集的数据包括：教育背景、认证情况、持续专业发展（CPD）、就业情况以及遗传与基因组临床实践。在澳大利亚估计的630名临床遗传保健专业人员中，354人完成了调查（回复率为56.2%）。对5.5%的遗传咨询师受访者进行了解释性访谈。从事临床工作的人员报告称参与了全外显子组或基因组测序的各个方面（48.6%的遗传咨询师，88.6%的临床遗传学家）。大多数遗传咨询师（74.2%）和临床遗传学家（87.0%）在过去两年中参加了基因组学CPD，分别有61.0%和39.1%是自费参加。遗传咨询师希望广泛参与基因组学领域，包括理解、分类和解释结果以便更好地为患者提供咨询。大多数受访者（89.9%）对自己的工作感到满意，91.6%的人计划在遗传学领域工作至退休。然而，14.1%担任临床角色的遗传咨询师和24.6%的临床遗传学家计划在10年内退休。这是对临床遗传保健专业人员的首次全国性审计，表明澳大利亚的专业人员有积极性并准备好采用新模式来提供基因组医学，但需要考虑教育和培训以满足需求。
