Lynch Frances L, Himes Patricia, Gilmore Marian J, Morris Elissa M, Schneider Jennifer L, Kauffman Tia L, Shuster Elizabeth, Reiss Jacob A, Dickerson John F, Leo Michael C, Davis James V, McMullen Carmit K, Wilfond Benjamin S, Goddard Katrina A B
Center for Health Research, Kaiser Permanente Northwest, Portland, OR, USA.
Department of Medical Genetics, Kaiser Permanente Northwest, Portland, OR, USA.
J Genet Couns. 2018 Aug;27(4):823-833. doi: 10.1007/s10897-017-0205-5. Epub 2018 Feb 8.
Advances in technology and the promise of personalized health care are driving greater use of genome sequencing (GS) for a variety of clinical scenarios. As health systems consider adopting GS, they need to understand the impact of GS on the organization and cost of care. While research has documented a dramatic decrease in the cost of sequencing and interpreting GS, few studies have examined how GS impacts genetic counseling workloads. This study examined the time needed to provide genetic counseling for GS in the context of preconception carrier screening. Genetic counselors prospectively reported on the time spent in the results disclosure process with 107 study participants who were part of the NextGen study. We found that the median time for results disclosure was 64 min (ranged from 5 to 229 min). Preparation work was the most time-consuming activity. Qualitative data from journal entries, debrief interviews with genetic counselors, and detailed case conference notes provided information on factors influencing time for results disclosure and implications for practice. Results suggest that expanded carrier screening could require significant increases in genetic counseling time, unless we are able to generate new resources to reduce preparation work or develop other strategies such as the creation of new models to deliver this type of service.
技术进步以及个性化医疗保健的前景促使基因组测序(GS)在各种临床场景中得到更广泛的应用。随着医疗系统考虑采用GS,他们需要了解GS对医疗组织和成本的影响。虽然研究表明测序和解读GS的成本已大幅下降,但很少有研究探讨GS如何影响遗传咨询工作量。本研究在孕前携带者筛查的背景下,考察了为GS提供遗传咨询所需的时间。遗传咨询师前瞻性地报告了与参与下一代研究的107名研究参与者进行结果披露过程所花费的时间。我们发现,结果披露的中位时间为64分钟(范围为5至229分钟)。准备工作是最耗时的活动。来自日志条目、对遗传咨询师的汇报访谈以及详细的病例会议记录的定性数据提供了有关影响结果披露时间的因素及对实践影响的信息。结果表明,扩大携带者筛查可能需要大幅增加遗传咨询时间,除非我们能够创造新资源以减少准备工作,或制定其他策略,如创建新模式来提供此类服务。