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，伴随着成本的指数级下降，使得临床医生开始使用全基因组测序（WGS）来诊断、治疗和预测疾病成为可能。然而，WGS将在多大程度上改善人口层面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，以及其解释、临床应用和潜在适应症相关的不确定性而设计的。可能需要新的政策办法来建立一个系统，保证适当和广泛地获得高质量的序列数据和有效的报告，同时鼓励创新。这项拟议的研究直接回应了PA-11-250项目公告，将开始系统地优先考虑和解决在美国将WGS转化为健康福利所涉及的独特政策挑战。本研究将使用改进的德尔菲过程来识别、确定优先级并开始解决其中的一些政策问题，该过程将迭代地吸引不同的利益相关者群体。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未来的访谈，将作为了解WGS如何适应以及如何破坏当前监管框架的基础。这项分析将为起草政策问题的初步清单提供信息。一个由来自基因组学行业、临床实验室、保险公司、医疗保健系统、提供者和患者群体的40个关键利益相关者组成的小组，随后将进行反复调查，以增加和完善这份清单，并根据重要性和可追溯性对所产生的问题进行优先排序。然后将开发处理与测试质量和有效性、保险报销和知识产权有关的三个高优先级问题的政策方法。通过另一系列的利益相关者调查，研究小组将收集、完善和评估将由利益相关者小组在面对面会议上讨论的想法，以确定同意的领域和不同意的原因。调查结果将以简明易懂的形式分发给利益相关者和政策团体，目的是为政策制定提供信息。政策简报和与选定的联邦官员、国会议员和工作人员的后续会议将用于开始关于临床WGS的重点对话。该项目将率先采用协作、系统的方法，向利益相关者和美国决策者通报围绕最新一代医疗基因组学的政策优先事项。重要的是，它将产生由不同专家小组制定的具体、务实的政策方针。

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.