Clinical Integration of Whole Genome Sequencing: A Policy Analysis

描述（由申请人提供）：下一代DNA测序技术的创新，伴随着成本的指数下降，使临床医生有可能开始使用全基因组测序（WGS）来诊断，治疗和预测疾病。然而，WGS将在多大程度上改善人口一级的健康结果，将取决于对其商业化和使用的有效监督。目前指导单基因检测管理的法规并不是为了解决WGS产生的基因组信息海啸，以及与其解释，临床实用性和潜在适应症相关的不确定性。可能需要新的政策方法来建立一个系统，保证适当的，广泛的访问高质量的序列数据和有效的报告，同时鼓励创新。拟议的研究直接响应PA-11-250计划公告，将开始系统地优先考虑和解决将WGS转化为美国健康福利所涉及的独特政策挑战。本研究将确定，优先级和开始，以解决这些政策问题，使用修改后的德尔菲过程，反复参与不同群体的利益相关者。对当前和新兴WGS行业的初步景观分析，通过对行业领导者关于临床WGS未来的采访得到加强，将作为理解WGS如何融入以及如何破坏当前监管框架的基础。这项分析将为起草初步政策问题清单提供信息。然后，将对来自基因组学行业、临床实验室、保险公司、医疗保健系统、供应商和患者群体的40名关键利益相关者进行反复调查，以添加和完善该列表，并根据重要性和易处理性对所产生的问题进行优先排序。然后，将制定政策办法，以解决与测试质量和有效性、保险报销和知识产权有关的三个高度优先问题。通过另一系列的利益相关者调查，研究小组将收集、完善和评估想法，这些想法将由利益相关者小组在面对面会议上讨论，以确定一致的领域和不一致的原因。调查结果将以简明易懂的格式分发给利益攸关方和政策界，目的是为政策制定提供信息。政策简报和后续会议与选定的联邦官员，国会议员和工作人员将用于开始重点对话临床WGS。该项目将是第一个使用协作，系统的方法，告知利益相关者和美国政策制定者有关最新一代医疗保健基因组学的政策优先事项。重要的是，它将导致由不同的专家组制定具体、务实的政策方针。 公共卫生相关性：患者很快就能知道他们整个基因组的序列--他们继承的所有DNA--并与医疗保健专业人员分享，以帮助预防、诊断和选择疾病的治疗方法。确保公众获得高质量基因检测的法律是在基因组测序成为可能之前制定的。这项研究将开始制定一套规则，以确保（1）新的DNA测试是可靠的，对结果的解释是准确的，（2）人们可以通过医疗系统获得这些测试，（3）该领域的新创新在不牺牲质量或访问的情况下得到奖励。

DESCRIPTION (provided by applicant): Innovations in next-generation DNA sequencing technologies, accompanied by exponential drops in cost, have made it possible for clinicians to begin to use whole genome sequencing (WGS) to diagnose, treat, and predict disease. The extent to which WGS will improve health outcomes on a population level, however, will depend on effective oversight of its commercialization and use. The regulations that currently guide the administration of single-gene tests were not designed to address the tsunami of genomic information generated by WGS, and the uncertainties related to its interpretation, clinical utility and potential indications. New policy approaches may be required to establish a system that guarantees appropriate, broad access to high-quality sequence data and valid reports while encouraging innovation. The proposed research study, which responds directly to the program announcement PA-11-250, will begin to systematically prioritize and address the unique policy challenges involved in translating WGS into health benefits in the United States. This study will identify, prioritize and begin to address some of these policy questions using a modified Delphi process that iteratively engages a diverse group of stakeholders. An initial landscape analysis of the current and emerging WGS industry, enhanced by interviews with industry leaders about the future of clinical WGS, will serve as the basis for understanding how WGS fits into-and how it may disrupt-the current regulatory framework. This analysis will inform the drafting of an initial list of policy questions. A panel of 40 key stakeholders, drawn from the genomics industry, clinical laboratories, insurers, health care systems, providers and patient groups, will then be iteratively surveyed to add to and refine this list, and to prioritize the resulting issues by importance and tractability. Policy approaches to address three high-priority issues related to test quality and validity, insurance reimbursement, and intellectual property will then be developed. Through another series of stakeholder surveys, the research team will collect, refine and evaluate ideas which will be discussed by the stakeholder panel at an in-person meeting to identify areas of agreement and reasons for disagreement. Findings will be distributed to stakeholder and policy communities in concise, accessible formats with the goal of informing policy development. Policy briefings and follow-up meetings with select federal officials, Congressional members and staff will be used to begin focused dialogues on clinical WGS. This project will be among the first to use a collaborative, systematic approach to inform stakeholders and U.S. policymakers about policy priorities surrounding the newest generation of health care genomics. Importantly, it will result in concrete, pragmatic policy approaches developed by a diverse group of experts. PUBLIC HEALTH RELEVANCE: Patients will soon be able to learn the sequence of their entire genome-all of the DNA they inherited-and share it with health care professionals to help prevent, diagnose, and select treatments for diseases. The laws that ensure that the public has access to high- quality genetic tests were crafted before sequencing the genome was possible. This study will begin to develop a system of rules to make sure that (1) the new DNA tests are reliable and explanations of the results are accurate, (2) that people have access to these tests through the healthcare system, and (3) that new innovation in the area is rewarded without sacrificing quality or access.