Pharmacogenetic Testing: Challenges of Clinical Integration

描述（由申请人提供）：药物遗传学检测被认为是基因组学研究中最有前途的临床应用之一，具有减少药物不良反应和提高药物治疗疗效的潜力。由于药物遗传学测试解决的是一个关于药物治疗的特定问题，因此与其他类型的基因测试相比，它们通常被认为具有较少的伦理和社会影响。然而，在将药物遗传学测试适当地引入临床实践之前，需要解决一些政策问题。一个关键的问题是药物遗传学测试可能产生与测试所针对的药物治疗问题无关的辅助临床信息——一种信息性的“副作用”。药理学试验产生的辅助信息是可变的，可能包括有关疾病易感性、预后和药物反应的信息，而不是那些进行试验的信息。例如，测试他汀类药物的反应可能揭示阿尔茨海默病或黄斑变性的风险信息。这些问题提出了几个问题：一个理性的人想知道测试的范围和获得测试结果的途径是什么？是否应该向患者提供有关检测结果的其他潜在用途的信息？哪些卫生保健专业人员应该定期获得药物遗传学结果？本项目将通过以下具体目标探讨这些政策挑战：1)确定卫生专业人员在分享药物遗传信息和披露辅助临床信息方面的法律义务；2和3)通过焦点小组和调查评估公众和卫生专业人员对披露与药物遗传检测相关的不同类型辅助信息的态度，以及与卫生专业人员之间知情同意、咨询和共享药物遗传信息的相关问题；4)就与药物遗传检测相关的咨询、知情同意和披露辅助信息的适当政策达成利益相关者共识。公共卫生相关性——本研究的结果将有助于确保药物遗传检测的适当临床整合，并告知随着普通人群基因检测使用的增加而出现的相关问题，包括风险沟通和健康专业人员在美国进入基因组医学时代时的适当角色。这项研究还将有助于确定是否需要在现有系统之外建立新的药物遗传学卫生基础设施，以实现成功的全人群整合。

DESCRIPTION (provided by applicant): Pharmacogenetic testing is considered one of the most promising clinical applications arising from genomics research, with the potential to reduce adverse drug responses and improve efficacy of drug treatment. Because pharmacogenetic tests address a specific question about drug therapy, they have generally been viewed as having fewer ethical and social implications than other types of genetic testing. Yet some policy concerns will need to be addressed before pharmacogenetic tests can be introduced appropriately into clinical practice. A key concern is the potential for pharmacogenetic tests to generate ancillary clinical information unrelated to the drug treatment question for which testing is done - an informational "side effect." The ancillary information generated by pharmacogenetic tests is variable, and may include information about disease predispositions, prognosis, and drug responses other than those for which testing is performed. For example, testing for statin response might reveal information about risk of Alzheimer's disease or macular degeneration. These issues raise several questions: What would a reasonable person want to know about the scope of testing and access to test results? Should information about other potential uses of a test result be made available to the patient? Which health care professionals should routinely have access to pharmacogenetic results? This project will explore these policy challenges through the following specific aims: 1) determine the legal obligations of health professionals with respect to sharing of pharmacogenetic information and disclosure of ancillary clinical information; 2 & 3) assess attitudes of the public and health professionals toward disclosure of different types of ancillary information related to pharmacogenetic testing and related issues of informed consent, counseling, and sharing of pharmacogenetic information among health professionals through focus groups and surveys, and 4) develop a stakeholder consensus regarding appropriate policies for counseling, informed consent and disclosure of ancillary information related to pharmacogenetic testing. PUBLIC HEALTH RELEVANCE - The results of this study will help to ensure the appropriate clinical integration of pharmacogenetic testing, and inform related issues arising with the increasing use of genetic testing for the general population, including risk communication and the appropriate roles of health professionals as we enter the era of genomic medicine in the US. This study will also help inform determinations of whether new health infrastructures for pharmacogenetics are required beyond current systems for successful population-wide integration.