Effectiveness of Pharmacogenetic Testing in Asthma

描述(申请人提供)：人类基因组计划已经花费了超过30亿美元，但从这一努力中获得的遗传知识很少应用于临床实践。目前处于早期测试中的基因测试有望通过允许临床医生根据个人需求量身定做哮喘治疗，从而极大地改善哮喘治疗。在这个阶段，遗传学领域需要进行研究，以帮助这些测试的开发者和潜在用户以在现实生活中最大化其益处的方式来制定和应用这些测试。Ann Chen Wu，医学博士，公共卫生硕士，儿科医生和卫生服务研究员，致力于研究基因测试对健康结果的影响。通过这个K08奖项，她建议在一个新出现的重要领域进行创新研究和培训。她将在健康服务研究方面的先前培训的坚实基础上，在丰富的环境中获得先进的遗传学教育和研究经验，并拥有一支杰出的导师团队。吴博士的长期研究目标是创建可推广的方法，以促进基因测试的发展，并使临床医生和政策制定者能够以优化大量人口健康的方式应用这些测试。该研究计划的具体目的是评估最近开发的药物遗传学测试的有效性，这些测试预测哪些患者对两种最常用的治疗哮喘的药物--β2-激动剂和吸入皮质类固醇--无反应的风险最高。这些多基因测试在临床试验中被发现是有效的，但还没有在测试特征可能不同的普通人群中进行测试。此外，吴博士建议在不同的测试性能和哮喘流行病学假设下，评估这些药物遗传测试的预期健康益处、风险和成本效益。吴博士在Hatviard Meidical School拥有独特的资源，包括一支富有成就和支持性的指导团队，获得NIH资助的两项临床试验的数据，以及获得哮喘自然病史的成本效益模型。这里提出的研究和培训将使一名优秀的年轻调查人员能够在该领域发展的关键阶段进入一个重要的新领域。相关性(见说明)：来自人类基因组的知识很少应用到临床实践中。这项建议将有助于评估预测哮喘药物反应差或好的基因测试是否可以在现实世界环境中用于临床，以造福于普通人群的健康。(摘要结束)

DESCRIPTION (provided by applicant): Over 3 billion dollars have been spent on the Human Genome Project, yet few applications of the genetic knowledge from this endeavor are available for clinical practice. Genetic tests currently in early testing hold promise to greatly improve asthma management by allowing clinicians to tailor asthma management to individual needs. At this stage, the field of genetics needs research to help the developers and potential users of these tests to formulate and apply them in ways that maximize their benefits in real-life settings. Ann Chen Wu, MD, MPH, is a pediatrician and health services researcher who is committed to a research career investigating the effects of genetic testing on health outcomes. Via this K08 award, she proposes innovative research and training in an area of emerging importance. She will build on her strong foundation of prior training in health services research by obtaining advanced education and research experience in genetics with an outstanding team of mentors in a rich environment. Dr. Wu's long-term research goals are to create generalizable approaches that enhance the development of genetic tests, and to enable clinicians and policymakers to apply these tests in ways that optimize the health of large populations. The specific aims of the research plan are to evaluate the effectiveness of recently developed pharmacogenetic tests that predict which patients are at highest risk for not responding to the two most commonly used medications for asthma, beta2-agonists and inhaled corticosteroids. These multi-gene tests have been found efficacious in clinical trials, but have not been tested in general populations where test characteristics may differ. In addition, Dr. Wu proposes to evaluate the projected health benefits, risks, and cost-effectiveness of these pharmacogenetic tests under varying assumptions about test performance and asthma epidemiology. Dr. Wu has unique resources available to her at Hatviard Meidical School, including an accomplished and supportive mentorship team, access to data from two NIH funded clinical trials, and access to a cost- effectiveness model of the natural history of asthma. The research and training proposed here will enable an excellent young investigator to enter an important new field at a critical stage in the field's development. RELEVANCE (See instructions): Few applications of knowledge from the Human Genome have reached clinical practice. This proposal will help assess whether genetic tests that predict poor or good response to asthma medications can be used clinically in real world settings to benefit the health of a general population. (End of Abstract)