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，但这项奋进的遗传知识很少用于临床实践。目前处于早期测试阶段的基因检测有望通过允许临床医生根据个人需求定制哮喘管理来大大改善哮喘管理。在这个阶段，遗传学领域需要研究，以帮助这些测试的开发者和潜在用户以最大限度地提高其在现实生活中的利益的方式制定和应用它们。Ann Chen Wu，医学博士，公共卫生硕士，是一名儿科医生和卫生服务研究人员，致力于研究基因检测对健康结果的影响。通过这个K08奖，她提出了一个新兴的重要性领域的创新研究和培训。她将建立在她在卫生服务研究之前的培训的坚实基础上，通过在丰富的环境中与优秀的导师团队一起获得遗传学方面的先进教育和研究经验。吴博士的长期研究目标是创建可推广的方法，以促进基因检测的发展，并使临床医生和政策制定者能够以优化大量人群健康的方式应用这些检测。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哮喘药物β 2受体激动剂和吸入性皮质类固醇没有反应的风险最高。这些多基因测试已被发现在临床试验中有效，但尚未在测试特征可能不同的一般人群中进行测试。此外，Wu博士建议在不同的测试性能和哮喘流行病学假设下，评估这些药物遗传学测试的预期健康益处、风险和成本效益。吴博士在Hatviard Meidical学校拥有独特的资源，包括一个有成就和支持性的导师团队，获得两项NIH资助的临床试验的数据，以及获得哮喘自然史的成本效益模型。这里提议的研究和培训将使一名优秀的年轻调查员能够在一个重要的新领域发展的关键阶段进入该领域。相关性（见说明）：人类基因组知识的应用很少达到临床实践。这项提议将有助于评估预测哮喘药物不良或良好反应的基因测试是否可以在真实的世界环境中临床使用，以造福普通人群的健康。 (End摘要）

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)