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，有关遗传病或风险的信息将越来越多地为筛查和预防提供基础，以减少发病率和死亡率。因此，源于遗传信息的许多有意义的医疗行动将在初级保健提供者的主持下进行，这突显了遗传信息和其他医学信息之间的相似之处而不是不同之处。然而，以遗传为基础的管理与其他医疗干预措施有一个关键的不同之处：确认遗传疾病或风险会给家庭成员带来风险问题，并伴随着对披露遗传风险信息的权利和义务的关切。从生物伦理学的观点来看，隐私权和披露遗传风险信息的假定道德义务之间存在着隐性的紧张关系。在这部法律中也发现了类似的紧张关系，一方面是为了保护遗传隐私的共同努力，一方面是大多数州和国家层面通过或提出的基因隐私法，另一方面是少量但可能具有开创性的法律案件，这些案件表明，医疗保健提供者可能有法律义务分享遗传风险信息。然而，个人认为什么是正确的行动，以及遗传风险信息情况的哪些具体方面对他们确定为什么是正确的行动影响最大，这些都是未知的。更少人知道卫生保健提供者如何看待在他们作为卫生保健提供者的角色中体现出来的实用的日常伦理，这些提供者在卫生保健环境中工作，旨在一次一个地为患者提供护理。患者和医疗保健提供者在超越这种环境的限制下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联系患者的家人，他们可能会如何思考这样做是否在伦理上是正确的，在实用上是可能的？这些问题存在于一个由实证研究和伦理考量组成的混合领域。拟议项目的目的是通过对卫生保健提供者(普通内科医生、护士、遗传咨询师)和卫生保健消费者(“幼稚”的消费者和在其家庭中“经历过”遗传疾病的消费者)实施的一种现场调查方法来考虑这些问题。有相当多的数据表明，至少在短期内，改善公共健康和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实用方面的障碍，以道德和有效地利用遗传信息来改善健康结果。

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.