Clinical Integration of Whole Genome Sequencing: A Policy Analysis

全基因组测序的临床整合：政策分析

• 批准号: 8704339
• 负责人: Amy L McGuire
• 金额: $ 54.79万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-08-01 至 2016-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8704339
• 关键词: Address; Affect; Agreement; Area; Attention; Clinic; Clinical; Communities; Consultations; DNA; DNA Sequence; Data; Decision Making; Development; Diagnosis; Diagnostic tests; Disease; Drops; Ensure; Future; Generations; Genes; Genetic screening method; Genome; Genomics; Goals; Guidelines; Health; Health Benefit; Health Professional; Healthcare; Healthcare Systems; Industry; Inherited; Insurance; Insurance Carriers; Intellectual Property; Interview; Knowledge; Laboratories; Laws; Legal patent; Licensing; Methods; NIH Program Announcements; Neonatal Screening; Outcome; Paper; Patients; Persons; Policies; Policy Analysis; Policy Developments; Population; Process; Provider; Regulation; Reporting; Research; Review Literature; Rewards; Science; Series; Services; Surveys; System; Technology; Testing; Translating; Tsunami; Uncertainty; United States; Washington; Work; base; clinical practice; commercialization; cost; design; experience; follow-up; genome sequencing; improved; innovation; meetings; member; next generation; novel; prevent; research study; sequence learning; web site

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.

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，使临床医生能够开始使用全基因组测序 (WGS) 来诊断、治疗和预测疾病。然而，全基因组测序在人口层面改善健康结果的程度将取决于对其商业化和使用的有效监督。目前指导单基因测试管理的法规并非旨在解决全基因组测序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、广泛地获取高质量序列数据和有效报告，同时鼓励创新。拟议的研究直接响应计划公告 PA-11-250，将开始系统地优先考虑并解决将 WGS 转化为美国健康福利所涉及的独特政策挑战。本研究将使用经过修改的德尔菲流程来识别、确定优先顺序并开始解决其中一些政策问题，该流程迭代地吸引不同的利益相关者群体参与。对当前和新兴 WGS 行业的初步格局分析，通过对行业领导者关于临床 WGS 未来的采访进行加强，将成为了解 WGS 如何适应以及如何扰乱当前监管框架的基础。该分析将为起草初步政策问题清单提供信息。然后，由来自基因组学行业、临床实验室、保险公司、医疗保健系统、提供者和患者团体的 40 个主要利益相关者组成的小组将进行迭代调查，以添加和完善此列表，并根据重要性和可处理性对所产生的问题进行优先级排序。然后将制定解决与测试质量和有效性、保险报销和知识产权相关的三个高度优先问题的政策方法。通过另一系列的利益相关者调查，研究团队将收集、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进行讨论，以确定一致的领域和分歧的原因。研究结果将以简洁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。将利用政策简报和与选定的联邦官员、国会议员和工作人员举行的后续会议来开始就临床全基因组测序进行重点对话。该项目将是首批使用协作、系统方法向利益相关者和美国政策制定者通报围绕最新一代医疗保健基因组学的政策优先事项的项目之一。重要的是，它将产生由不同专家组制定的具体、务实的政策方法。