Implementing the moon: Getting genomic testing to the public

项目摘要/摘要 遗传学报告了临床实践指南中关于如何使用基因测试的22个领域，基于以下数据 定期使用可提高或改善临床结果。ACMG的当前实践指南提供 癌症易感性评估的转诊适应症。确定乳房遗传风险高的患者， 卵巢癌、结肠癌或其他癌症对个人的健康有重要的临床影响，但遗传风险 如果经常因为多个级别的测试障碍而无法识别。提供商级别的障碍包括 在风险识别、患者转介和是否有遗传专家提供咨询方面存在不足 在传统的测试范例中。患者层面的障碍包括对 检测的可得性和好处，以及获得检测服务的机会不足。如何最好地实施 对运行中的医疗保健系统进行适当的基因组测试和后续护理尚不清楚。问题： 沟通、临床流程、可报告的行动以及信息和支持的传输至关重要 重要性，必须改变和发展，以适应基因组中包含的新信息 测试。到目前为止，对执行进程的研究是在资源丰富的设施中进行的，根据 最优条件，通常不是在系统级别。目标包括： 1.比较两种确定初级保健诊所成员的策略的有效性和实施情况 有家族或个人癌症病史并提供高危个体以获得基因的人群 在一项随机试验中检测癌症易感性突变。这两种方法是：1)关注点(POC) 方法：将为所有25岁的患者提供基于平板电脑的癌症家族/个人病史筛查- 65岁，来诊所做例行预约。2)直接患者参与(DPE)：将信件发送至 诊所人群中年龄在25-65岁之间的所有个人，邀请他们访问网站进行家庭筛查 /个人癌症病史。在这两种策略中，那些被确定为高风险的人将接受在线教育 关于基因检测以及通过基于网络的平台获得此类检测的邀请。结果将是 完成筛查的活跃临床患者群体的百分比和活跃诊所的百分比 接受检测的患者群体。 2.确定临床流程和交互过程中和之后的变化、问题和低效 在初级保健诊所实施癌症风险的基因组检测。 3.评估实施癌症风险基因组筛查的两种方法对患者的影响， 提供者和卫生系统领导者报告益处和危害、满意度、感知的护理质量、 包括性别、种族/民族、社会经济和遗传素养差异。 4.评估每种筛查战略的价值(成本效益)和可负担性(预算影响)。

Project Summary/Abstract Genetics reports on 22 areas of clinical practice guidelines on how to use genetic tests, based on data that clinical outcomes are enhanced or improved by regular use. Current practice guidelines from ACMG provide referral indications for cancer predisposition assessment. Identifying patients with high genetic risk for breast, ovary, colon, or other cancers has important clinical ramifications for an individual's healthcare, but genetic risk if often not identified because of testing barriers at several levels. Barriers at the provider level include inadequacies in risk recognition, patient referrals and availability of genetic professionals to provide counseling in a traditional testing paradigm. Barriers at the level of the patient include poor understanding of the availability and benefits of testing and inadequate access to testing services. How to best implement appropriate genomic testing and follow-up care into an operating healthcare system is not known. Issues of communication, clinical flow, reportable actions, and transmission of information and support are of critical importance, and must change and grow to accommodate the new information contained within genomic testing. Studies to date of the implementation process have been conducted in high resourced facilities, under optimal conditions, often not at the system level. Aims include: 1. Compare the efficacy and implementation of two strategies for identifying members of a primary care clinic's population who have a family or personal history of cancer and offering high-risk individuals to obtain genetic testing for cancer susceptibility mutations in a randomized trial. The two methods are: 1) Point of Care (POC) approach: A tablet-based screening for family/personal history of cancer will be offered to all patients aged 25- 65 coming in for a routine appointment at the clinic. 2) Direct Patient Engagement (DPE): Letters will be sent to all individuals aged 25-65 in a clinic's population, inviting them to visit a web site for screening for family /personal history of cancer. In both strategies, those determined to be high-risk will receive online education about genetic testing and an invitation to obtain such testing through a web-based platform. Outcomes will be the fraction of the active clinic patient population that completes screening and the fraction of the active clinic patient population that undergoes testing. 2. Identify changes, problems, and inefficiencies in clinical flow and interactions during and after the implementation of genomic testing for cancer risk across primary care clinics. 3. Evaluate the effects of two methods of implementation of genomic screening for cancer risk on patient, provider, and health system leader reports of benefits and harms, satisfaction, perceived quality of care, including across gender, racial/ethnic, socioeconomic, and genetic literacy divides. 4. Evaluate the value (cost-effectiveness) and affordability (budget impact) of each screening strategy.