Knowledge Synthesis Center for Genomic Applications

描述：在人类基因组计划之后，基因组应用的快速发展既创造了机遇，也带来了挑战。虽然这些测试可能会让我们筛查个人的疾病易感性，并根据个人情况量身定制预防措施和治疗方法，以最大限度地增加益处，将危害降至最低，但基因组学研究的快速步伐以及监管监督的缺乏意味着，关于新测试的效用的证据往往缺乏。基因组应用和由此产生的临床干预的成本可能很高，在越来越注重成本和有效性的政策环境中，有关临床效用的信息至关重要。该项目将通过在基因组学中建立一个知识合成(KS)中心来应对这些挑战，以合成关于已建立的和正在出现的基因测试的证据，支持将证据转化为临床和政策建议，并向决策者传播证据摘要。我们的建议建立在我们在健康研究中心(CHR)的调查团队的丰富经验基础上。在过去的10年里，我们一直是俄勒冈州循证实践中心的成员，支持美国预防服务工作组(USPSTF)，指导支持AHRQ有效医疗(EHC)计划活动的科学资源中心(SRC)的相当一部分，并接受ARRA资金，进行专注于预防、行为干预和护理提供的比较有效性研究。通过ARRA基金，我们正在进行一项由NCI资助的癌症基因组应用计划(CERGEN)。在USPSTF和其他机构的工作中，我们确定了审查的优先顺序和定义了审查主题，开发并记录了新的审查方法，并对广泛的临床主题进行了系统和有针对性的审查。通过与疾控中心和EGAPP工作组的合作，我们提议：目标1：建立基因组学KS中心，为卫生保健实践和政策中的不同利益相关者计划、实施和传播基因组证据审查。目标2：对已定义的基因组研究问题进行系统的证据审查，以支持临床决策，并确定需要新研究的证据中的差距。目标3：对新出现的应用进行有针对性的审查并更新，并向GAPPNet发布专题简报。目标4：开发进行证据审查的新方法，并将其记录在程序手册中。KS中心的产品将通过同行评议的出版物和互联网帖子在公共领域迅速传播。我们将描述具体应用的证据状态，支持临床决策者实施有效的护理，并帮助实现基因组学和个性化医学的前景。

DESCRIPTION: The rapid development of genomic applications in the wake of the Human Genome Project creates both opportunities and challenges. While these tests may allow us to screen individuals for disease susceptibility and tailor prevention measures and treatments to maximize benefit and minimize harm, the swift pace of genomics research and lack of regulatory oversight mean that evidence on the utility of new tests is often lacking. The costs of genomic applications and resulting clinical interventions can be high, and in a policy environment increasingly focused on costs as well as effectiveness, information on clinical utility is critical. This project will address these challenges by establishing a Knowledge Synthesis (KS) Center in Genomics to synthesize evidence on established and emerging genetic tests, support translation of evidence into clinical and policy recommendations, and disseminate evidence summaries to decision-makers. Our proposal builds on the substantial experience of our investigative team at the Center for Health Research (CHR). We have been a member of the Oregon Evidence-Based Practice Center supporting the U.S. Preventive Services Task Force (USPSTF) for the past 10 years, directing a substantial segment of a Scientific Resource Center (SRC) that supports the activities of AHRQ's Effective Health Care (EHC) Program, and receiving ARRA funds to conduct comparative effectiveness research concentrating on prevention, behavioral interventions, and care delivery. Through ARRA funds, we are conducting an NCI-funded program on genomic applications in cancer (CERGEN). In our work for the USPSTF and others, we have prioritized and defined topics for review, developed and documented new review methods, and conducted both systematic and targeted reviews on a wide range of clinical topics. In partnership with the CDC and the EGAPP Working Group, we propose to: Aim 1: Establish a KS Center in Genomics to plan, conduct, and disseminate reviews of genomic evidence for diverse stakeholders in health care practice and policy. Aim 2: Conduct systematic evidence reviews for defined genomic research questions to support clinical decision-making and identify gaps in evidence requiring new research. Aim 3: Conduct and update targeted reviews on emerging applications and post topic briefs to GAPPNet. Aim 4: Develop novel methods for conducting evidence reviews, and document them in a Procedure Manual. The KS Center's products will be rapidly disseminated in the public domain through peer-reviewed publication, and internet postings. We will describe the state of evidence for specific applications, support clinical decision- makers in implementing effective care, and help to realize the promise of genomics and personalized medicine.