Guan Yue, McBride Colleen M, Rogers Hannah, Zhao Jingsong, Allen Caitlin G, Escoffery Cam
Department of Behavioral, Social, and Health Education Sciences, Rollins School of Public Health, Emory University, Atlanta, Georgia.
Department of Behavioral, Social, and Health Education Sciences, Rollins School of Public Health, Emory University, Atlanta, Georgia.
Am J Prev Med. 2021 Feb;60(2):e85-e94. doi: 10.1016/j.amepre.2020.08.029. Epub 2020 Nov 7.
This systematic review aims to (1) characterize strategies used to identify individuals at increased risk for hereditary breast and ovarian cancer syndrome and Lynch syndrome outside of oncology and clinical genetic settings, (2) describe the extent to which these strategies have extended the reach of genetic services to underserved target populations, and (3) summarize indicators of the potential scalability of these strategies.
Investigators searched PubMed, EMBASE, and PsycINFO for manuscripts published from October 2005 to August 2019. Eligible manuscripts were those published in English, those that described strategies to identify those at risk for hereditary breast and ovarian cancer syndrome or Lynch syndrome, those implemented outside of an oncology or genetic specialty clinic, and those that included measures of cancer genetic services uptake. This study assessed strategies used to increase the reach of genetic risk screening and counseling services. Each study was evaluated using the 16-item quality assessment tool, and results were reported according to the PRISMA guidelines.
Of the 16 eligible studies, 11 were conducted in clinical settings and 5 in public health settings. Regardless of setting, most (63%, 10/16) used brief screening tools to identify people with a family history suggestive of hereditary breast and ovarian cancer syndrome or Lynch syndrome. When reported, genetic risk screening reach (range =11%-100%) and genetic counseling reach (range =11%-100%) varied widely across studies. Strategies implemented in public health settings appeared to be more successful (median counseling reach=65%) than those implemented in clinical settings (median counseling reach=26%). Most studies did not describe fundamental components relevant for broad scalability.
Efforts to expand cancer genomic services are limited outside of traditional oncology and genetic clinics. This is a missed opportunity because evidence thus far suggests that these efforts can be successful in expanding the reach of genetic services with the potential to reduce health inequities in access. This review highlights the need for accelerating research that applies evidence-based implementation strategies and frameworks along with process evaluation to understand barriers and facilitators to scalability of strategies with high reach.
本系统评价旨在：（1）描述在肿瘤学和临床遗传学环境之外，用于识别遗传性乳腺癌和卵巢癌综合征以及林奇综合征风险增加个体的策略；（2）描述这些策略在多大程度上扩大了基因服务对服务不足目标人群的覆盖范围；（3）总结这些策略潜在可扩展性的指标。
研究人员检索了PubMed、EMBASE和PsycINFO，以查找2005年10月至2019年8月发表的手稿。符合条件的手稿需为英文发表，描述识别遗传性乳腺癌和卵巢癌综合征或林奇综合征风险个体的策略，在肿瘤学或遗传专科诊所之外实施，且包括癌症基因服务利用情况的衡量指标。本研究评估了用于扩大基因风险筛查和咨询服务覆盖范围的策略。每项研究均使用16项质量评估工具进行评估，并根据PRISMA指南报告结果。
在16项符合条件的研究中，11项在临床环境中进行，5项在公共卫生环境中进行。无论环境如何，大多数（63%，10/16）使用简短筛查工具来识别有提示遗传性乳腺癌和卵巢癌综合征或林奇综合征家族史的人。报告时，基因风险筛查覆盖范围（范围=11%-100%）和遗传咨询覆盖范围（范围=11%-100%）在各研究中差异很大。在公共卫生环境中实施的策略似乎比在临床环境中实施的策略更成功（咨询覆盖范围中位数=65%）（咨询覆盖范围中位数=26%）。大多数研究没有描述与广泛可扩展性相关的基本要素。
在传统肿瘤学和遗传学诊所以外，扩大癌症基因组服务的努力有限。这是一个错失的机会，因为迄今为止的证据表明，这些努力可以成功扩大基因服务的覆盖范围，有可能减少获得医疗服务方面的健康不平等。本综述强调需要加速开展研究，应用基于证据的实施策略和框架以及过程评估，以了解具有高覆盖范围的策略可扩展性的障碍和促进因素。
