Is primary care ready to utilize the promise of genetics? A vignette study

描述（由申请人提供）： 基因组研究的前景之一是，有关遗传疾病或风险的信息将越来越多地为筛查和预防提供基础，以降低发病率和死亡率。因此，许多源自遗传信息的有意义的医疗行动将在初级保健提供者的主持下进行，这突出了遗传信息和其他医疗信息之间的相似性而不是差异。然而，基于遗传的管理与其他医疗干预措施有一个关键的不同之处：遗传疾病或风险的确定引起了家庭成员的风险问题，并引起了对披露遗传风险信息的权利和义务的关注。从生命伦理学的角度来看，隐私权与披露遗传风险信息的假定道德义务之间存在着一种隐含的紧张关系。一个类似的紧张关系是在法律之间的协调一致的努力，以保护遗传隐私，遗传隐私法通过或提出在大多数国家和国家一级，同时，一个小的，但可能是开创性的，一些法律的案件，建议医疗保健提供者可能有法律的义务分享遗传风险信息。然而，人们认为什么是正确的行为，以及遗传风险信息情况的哪些具体方面最能影响他们确定为什么这是正确的行为，这些都是未知的。更不知道的是，医疗保健提供者如何看待他们作为在医疗保健环境中工作的提供者所扮演的角色中所体现的实际的日常道德，这些医疗保健环境旨在一次向一个病人提供护理。患者和医疗保健提供者对在这种环境的限制之外共享医疗信息的期望是什么？遗传风险信息情况的哪些具体方面可能会影响提供者认为有必要接触患者的家庭成员，他们如何考虑这样做是否符合伦理道德和实用可行？这些问题存在于一个混合领域，包括实证研究和伦理考虑。拟议项目的目的是考虑这些问题，使用一个小插曲调查方法管理的医疗保健提供者（普通内科医生，执业护士，遗传咨询师）和医疗保健消费者（“天真”的消费者和消费者“经历”与遗传疾病在他们的家庭）。有相当多的数据表明，至少在短期内，公共卫生改善与遗传信息之间的联系贯穿于初级保健提供者和患者及其家人。这项研究的目的是试图找出伦理和务实的障碍，以道德和有效的遗传信息，以改善健康结果的部署。

DESCRIPTION (provided by applicant): One of the promises of genomic research is that information about a genetic disease or risk will increasingly provide the basis for screening and prevention to reduce morbidity and mortality. As a result, much of the meaningful medical action stemming from genetic information will take place under the auspices of primary care providers, underscoring the similarities rather than differences between genetic and other medical information. However, there is a crucial way in which genetically based management is different from other medical interventions: The identification of a genetic disorder or risk raises the question of risk for family members and with it concerns about rights and obligations in regard to disclosure of genetic risk information. From the viewpoint of bioethics, there is an implicit tension between rights of privacy and a putative moral obligation to disclose genetic risk information. A similar tension is found in the law between concerted efforts to preserve genetic privacy, with genetic privacy laws passed or proposed in most states and on a national level, and concurrently, a small, but potentially seminal, number of legal cases that suggest a health care provider may have a legal duty to share genetic risk information. Yet what individuals believe is correct action, and what specific aspects of a genetic risk information situation most influence their determination of why that is correct action, are unknown. Even less is known about how health care providers think about the practical, everyday ethics instantiated in their roles as providers working in a health care setting designed to deliver care to patients one at a time. What are the expectations of both patients and health care providers in regard to sharing medical information beyond the constraints of this setting? What specific aspects of a genetic risk information situation might influence providers to believe it necessary to reach out to a patient's family members, and how might they think about whether it is ethically correct and pragmatically possible to do so? These questions exist in a hybrid domain comprising empirical research and ethical consideration. It is the purpose of the proposed project to consider these questions using a vignette survey method administered to health care providers (general internists, nurse practitioners, genetic counselors) and health care consumers ("naive" consumers and consumers "experienced" with a genetic disorder in their family). There are considerable data that suggest that the link between public health improvement and genetic information, at least in the near term, runs through primary care providers and patients to their families. It is the purpose of this research to try to identify barriers, both ethical and pragmatic, to the ethical and efficient deployment of genetic information to improve health outcomes.