Translating Addiction Genomics Research into Practice: Examining Ethics & Policy

描述（由申请人提供）：目前正在进行研究，以检查导致一系列成瘾的遗传因素，包括吸烟和酗酒等严重的公共卫生问题。新的方法使用新兴技术——比如全基因组关联研究——来绘制和描述人类大脑中遗传和药物引起的改变。通过更好地理解与成瘾有关的生物学机制，这一正在展开的研究有望推动药物基因组学的发展和新的基因测试的创建，并最终为预防和治疗的创新战略提供基础。然而，将基因组研究的结果转化为公共卫生干预和治疗方案将需要解决一系列伦理和政策挑战。尽管对成瘾的分子遗传学研究仍处于起步阶段，但它可能会导致我们对成瘾障碍的看法发生根本性的变化，这反过来将对现有和未来减少药物滥用障碍危害的政策产生重大影响。识别与依赖相关的遗传变异将有助于“对成瘾的遗传理解”的出现，这可能会给那些受影响的人带来额外的耻辱，或者，如果以过于简单和确定的方式理解，可能会将成瘾的责任从社会环境中的关键因素转移到个人的基因构成上。基于我们最初的工作（R01DA14577），并咨询了我们的多学科咨询委员会，该项目的经验目标是：1)描述正在接受成瘾治疗的个体如何将新出现的基因发现融入他们的自我认同，包括对个人责任的理解；2)追踪对成瘾的遗传理解如何进入广泛的大众话语，主要关注研究结果如何被主要媒体报道并翻译为公众；3)研究成瘾表型如何被确定并用于遗传学研究，更具体地说，新兴的遗传学理解将如何影响行为遗传学研究中使用的诊断分类方案的未来修订（即DSM）。主要方法包括深度访谈和民族志观察。根据我们的实证工作，伦理和政策的目标是将基因组研究成果转化为实践。我们将：4)描述和评估成瘾的基因解释对现有项目的可预见影响，如公共卫生运动和治疗项目；5)识别和分析成瘾基因理解的关键伦理、法律和社会后果，以便为未来的政策制定提供信息。拟议项目的最终目标是使决策者清楚地了解基因组研究对成瘾的潜在影响和局限性，确保研究成果和谐地纳入目前的公共卫生措施，以减少成瘾对健康的不利后果，并有助于在今后制定公共卫生政策时负责任地使用基因研究成果。

DESCRIPTION (provided by applicant): Studies are currently underway to examine the genetic factors contributing to a range of addictions, including critical public health problems like smoking and alcohol abuse. New approaches use emerging technologies-such as genome-wide association studies-to map and characterize inherited and drug-induced alterations in the human brain. By providing a better understanding of the biological mechanisms involved in addiction, this unfolding body of research is expected to fuel developments in pharmacogenomics and the creation of new genetic tests, and ultimately, to provide the basis for innovative strategies for prevention and treatment. However, translating the results of genomic research into public health interventions and treatment programs will require the resolution of a host of ethical and policy challenges. Although molecular genetic research on the addictions is still in its infancy, it is likely to induce fundamental changes in our views of addictive disorders, which in turn will have a significant impact on existing and future policies to reduce the harms of substance abuse disorders. The identification of genetic variations associated with dependence will contribute to the emergence of a "genetic understanding of addiction" that may cast additional stigma on those affected or, if understood in an overly simplistic and deterministic way, may shift responsibility for addiction away from key factors in the social environment and onto individuals' genetic make-up. Based on our initial work (R01DA14577), and in consultation with our multi-disciplinary Advisory Board, the project's empirical aims are to: 1) characterize how individuals undergoing treatment for addiction integrate emerging genetic findings into their self-identity, including understandings of personal responsibility; 2) track how a genetic understanding of addiction circulates into broad popular discourse, with a primary focus on how research findings are covered by major media and translated for the public, and; 3) examine how addiction phenotypes are ascertained and used in genetic studies, and more specifically, how an emerging genetic understanding will affect future revisions of diagnostic classification schemes used in behavioral genetics research (i.e., DSM). Primary methods include in-depth interviews and ethnographic observation. Informed by our empirical work, the ethical and policy aims target the translation of genomic research findings into practice. We will: 4) delineate and evaluate the foreseeable impact of genetic explanations of addiction on existing programs, such as public health campaigns and treatment programs, and; 5) identify and analyze key ethical, legal, and social consequences of a genetic understanding of addiction in order to inform future policy making. The ultimate goals of the proposed project are to provide policy makers with a clear understanding of the potential impact and limitations of genomic research on the addictions, ensure that research findings will integrate harmoniously into current public health measures to reduce the adverse health outcomes of addiction, and contribute to a responsible use of genetic research findings in future formulations of public health policy.