Virtual Cancer Genetic Services: Telemedicine Delivery in Community Clinics

基因组学的基础科学进展为改善美国人类健康和减轻癌症负担提供了巨大的希望，推动了个性化医疗领域的快速发展。然而，将基因发现转化为有益于个人和人口健康的负责任和有效的应用存在许多挑战。癌症易感性基因筛查是“个体化医疗”的应用之一，已成为临床医学的标准治疗。鉴于对基因检测的需求不断增加，以及希望广泛传播服务以优化人口健康福利，目前的肿瘤基因检测提供模式对基因检测的广泛传播构成了障碍。远程医疗（如视频会议）已成功地用于将各种专业医疗服务扩大到低准入人群。然而，我们对远程医疗在个人和人口两级的影响的理解存在重大差距。需要进一步研究，以开发和评估远程医疗通信，交付和传播战略，以优化远程医疗遗传服务的成果，在癌症遗传学和超越。癌症遗传服务的传播为评估癌症遗传服务远程医疗的传播以及评估和了解个性化医疗在不同人群中的真实的世界结果提供了理想的背景。我们建议制定一个协议，远程医疗（即视频会议）提供癌症遗传服务，并评估在社区临床实践中实施的可行性，有限或没有现场访问 遗传服务，将个性化癌症风险评估的可获得性扩大到获得服务有限或与利用服务的重大障碍有关的人群。在目标1中，我们将与社区实践合作，为获得遗传服务有限或无法获得遗传服务的社区实践制定和试行远程医疗癌症遗传服务协议。在试点中，我们将使用提供者（遗传提供者和社区工作人员）和患者调查来完善远程医疗协议和程序。在目标2中，我们将与来自10-12个额外社区实践的关键实践利益相关者进行半结构化访谈，以确定对可持续采用和实施我们的远程医疗协议至关重要的变量，这些变量在不同的临床社区实践中有限或无法获得遗传服务。我们希望这项研究能够为未来的疗效和有效性研究提供信息，重点是在社区实践中更广泛地实施和可持续性远程医疗癌症遗传服务。此外，我们希望这项研究能够为个性化医疗的其他新兴和新应用的传播提供信息，促进研究向临床实践的转化，并促进个人，家庭和人群的健康。 公共卫生相关性：随着基因组测试的多样性和数量的增加，需要评估现有和新的基因组应用的传播和现实结果的转化研究，以指导基因组进步的合理和有效的临床整合，最终减少癌症和其他流行疾病的负担，改善人类健康。在社区实践中提供遗传服务的远程医疗是一种创新的提供模式，有可能将个性化癌症风险评估的可及性扩大到那些获得服务的机会有限或与利用服务的重大地理或财政障碍有关的人群。因此，这项研究有可能促进基础科学研究向临床实践的转化，促进个人、家庭和人口的健康。

DESCRIPTION (provided by applicant): Basic science advances in genomics have provided great promise for improving human health and reducing the burden of cancer in the United States, fueling the rapidly growing field of personalized medicine. Yet, translating gene discoveries into responsible and effective applications that benefit the health of individuals and populations presents many challenges. Genetic screening for cancer susceptibility is one application of "personalized medicine", which has become standard of care in clinical medicine. Given the increasing demand for genetic testing and the desire to disseminate services broadly to optimize population health benefits, the current delivery model for genetic testing in oncology presents barriers to widespread dissemination of genetic testing. Telemedicine (e.g. videoconferencing) has been successfully used to expand a variety of specialized medical services to low access populations. Yet, there are significant gaps in our understanding of the impact of telemedicine at both individual and population levels. Further research is needed to develop and evaluate telemedicine communication, delivery, and dissemination strategies to optimize outcomes of telemedicine genetic services, in and beyond cancer genetics. The diffusion of cancer genetic services provides an ideal context to evaluate the dissemination of telemedicine delivery of cancer genetic services, and to assess and understand the real world outcomes of personalized medicine in diverse populations. We propose to develop a protocol for telemedicine (i.e. videoconferencing) delivery of cancer genetic services, and evaluate the feasibility of implementing it in community clinical practices with limited or no access to on-site genetic services, expanding the availability of personalized cancer risk assessment to populations where access to services has been limited or is associated with significant barriers to utilization. In Aim 1, we will collaborate with community practices to develop and pilot a protocol for telemedicine cancer genetic services for community practices with limited or no access to genetic services. In the pilot, we will use providers (genetic providers & community site staff) and patient surveys to refine the telemedicine protocol and procedures. In Aim 2, we will conduct semi-structured interviews with key practice stakeholders from 10-12 additional community practices to identify variables critical to the sustainable adoption and implementation of our telemedicine protocol in diverse clinical community practices with limited or no access to genetic services. We expect this research to inform future efficacy and effectiveness research focused on broader implementation of, and sustainability telemedicine cancer genetic services in community practices. Additionally, we expect this research to inform the dissemination of other emerging and new applications of personalized medicine, fostering the translation of research to clinical practice, and promoting the health of individuals, families and populations. PUBLIC HEALTH RELEVANCE: As the diversity and volume of genomic testing increases, translational research that evaluates the dissemination and real-world outcomes of existing and new genomic applications is needed to guide the rational and effective clinical integration of genomic advances that will ultimately reduce the burden of cancer and other prevalent diseases, to improve human health. Telemedicine delivery of genetic services in community practices is an innovative delivery model that has the potential to expand availability of personalized cancer risk assessment to populations where access to services has been limited or is associated with significant geographic or financial barriers to utilization. Thus, this reseach has the potential to foster the translation of basic science research to clinical practice, promotig the health of individuals, families, and thus populations.