Pharmacogenetic Testing: Challenges of Clinical Integration

描述（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了有关药物治疗的特定问题，因此它们通常被视为比其他类型的基因测试具有更少的伦理和社会影响。然而，在药物遗传学试验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试验产生与药物治疗问题无关的辅助临床信息的可能性-一种信息性“副作用”。“药物遗传学测试产生的辅助信息是可变的，可能包括有关疾病倾向，预后和药物反应的信息，而不是进行测试的信息。例如，他汀类药物反应的测试可能会揭示阿尔茨海默病或黄斑变性风险的信息。这些问题提出了几个问题：一个理性的人想知道什么关于测试的范围和测试结果的访问？是否应向患者提供有关检测结果其他潜在用途的信息？哪些医疗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学信息和披露辅助临床信息方面的法律的义务; 2和3）评估公众和卫生专业人员对披露与药物遗传学测试相关的不同类型的辅助信息以及知情同意、咨询的相关问题的态度，并通过焦点小组和调查在卫生专业人员之间共享药物遗传学信息，以及4）就咨询、知情同意和披露与药物遗传学检测相关的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学检测的适当临床整合，并告知随着普通人群越来越多地使用基因检测而产生的相关问题，包括风险沟通和卫生专业人员的适当角色，因为我们进入了美国的基因组医学时代。 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，以实现全人口的成功整合。

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.