Collaboration for Outcomes Research and Evaluation, Faculty of Pharmaceutical Sciences, University of British Columbia, 2405 Wesbrook Mall, Vancouver, BC, V6T 1Z3, Canada.
Woodward Library, University of British Columbia, 2198 Health Sciences Mall, Vancouver, BC, V6T 1Z3, Canada.
Health Policy. 2021 Jul;125(7):877-887. doi: 10.1016/j.healthpol.2021.04.010. Epub 2021 Apr 18.
Ongoing rapid growth in the need for genetic services has the potential to severely strain the capacity of the clinical genetics workforce to deliver this care. Unfortunately, assessments of the scale of this health policy challenge and potential solutions are hampered by the lack of a consolidated evidence base on the growth in genetic service utilization. To enable health policy research and strategic planning by health systems in this area, we conducted a scoping review of the literature on the utilization and uptake of clinical genetics services in high-income countries published between 2010 and 2018. One-hundred-and-ninety-five unique studies were included in the review. Most focused on cancer (85/195; 44%) and prenatal care (50/195; 26%), which are consistently the two areas with the greatest volume of genetic service utilization in both the United States and other high-income countries. Utilization and uptake rates varied considerably and were influenced by contextual factors including health system characteristics, provider knowledge, and patient preferences. Moreover, growth in genetic service utilization appears to be driven to a significant degree by technological advances and the integration of new tests into clinical care. Our review highlights both the policy challenge posed by the rapid growth in the utilization of genetic services and the variability in this trend across clinical indications and health systems.
不断增长的遗传服务需求有可能严重削弱临床遗传学工作者提供这种护理的能力。不幸的是，由于缺乏关于遗传服务利用增长的综合证据基础，对这一卫生政策挑战的规模和潜在解决方案的评估受到了阻碍。为了使卫生系统能够在这一领域进行卫生政策研究和战略规划，我们对 2010 年至 2018 年间发表的高收入国家临床遗传学服务利用和采用情况的文献进行了范围审查。该审查共纳入 195 项独特的研究。大多数研究集中在癌症(85/195；44%)和产前保健(50/195；26%)，这两个领域在美国和其他高收入国家一直是遗传服务利用量最大的两个领域。利用率和采用率差异很大，受到包括卫生系统特征、提供者知识和患者偏好在内的各种因素的影响。此外，遗传服务利用的增长似乎在很大程度上是由技术进步和新检测纳入临床护理推动的。我们的审查既强调了遗传服务利用的快速增长所带来的政策挑战，也强调了这一趋势在不同临床指征和卫生系统中的差异。
