Surfacing values in the economic evaluation of genomic sequencing for diagnosis of children with rare diseases

基因组测序诊断罕见病儿童的经济评估的浮现价值

• 批准号: 10584590
• 负责人: Meghan Halley
• 金额: $ 19.09万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-05-10 至 2026-02-28
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10584590
• 关键词: Affect; Anthropology; Bioethics; Caregivers; Child; Clinical; Clinical Management; Cost Analysis; Costs and Benefits; Data; Development; Diagnosis; Diagnostic; Disease; Ensure; Equity; Ethical Analysis; Ethics; Ethnography; Family; Family health status; Foundations; Future; Future Generations; General Population; Genetic; Genetic Diseases; Genome; Genomics; Goals; Health; Health Care Costs; Health Policy; Health Services Research; Healthcare Systems; Imagination; Individual; Intervention; Knowledge; Long-Term Effects; Maps; Measurement; Measures; Medical; Medicine; Mentors; Methodology; Methods; Modern Medicine; Morbidity - disease rate; Outcome; Patient Care; Patients; Perception; Personal Satisfaction; Rare Diseases; Research; Research Personnel; Scientist; Social Well-Being; Surface; Technology; Testing; Training; United States; Work; career; clinical care; cost; design; economic evaluation; ethical, legal, and social implication; ethnographic method; exome; experience; follow-up; genetic testing; genome sequencing; health care service utilization; health economics; health related quality of life; individual patient; innovation; insight; interdisciplinary approach; legal implication; mortality; novel strategies; pediatric patients; physical conditioning; policy recommendation; preference; psychologic; psychosocial; rare genetic disorder; relative cost; research clinical testing; response; skills; social; social implication; stakeholder perspectives; tool; variant of unknown significance; whole genome

The breakthroughs in diagnosis of rare diseases made possible by genome sequencing (GS) are some of the most exciting in medicine today. Rare diseases affect nearly 30 million individuals in the United States, and two-thirds of those affected are children. Studies suggest that GS (including exome and whole genome sequencing) may be able to provide a diagnosis to up to 50 percent of patients previously undiagnosed after extensive clinical and genetic testing. However, the downstream benefits and costs of these tests for patients, families, and the healthcare system remain poorly defined and methodologically challenging to assess. In response to these challenges, leaders in health economics and policy have called for the development of new, interdisciplinary methods for defining and measuring the value of GS. In order to ensure these methods are not only accurate, but also ethical, it is critical to bring to the surface a consideration of the values and preferences of various stakeholders (i.e., patients, families, clinicians, payers) involved in the use of GS for diagnosis of rare diseases, and whose values are served by different methodological approaches to defining and measuring the value of GS. The goal of the proposed research is to examine both how we can, and how we should, define and measure the value of GS for pediatric patients with rare diseases. This proposal has three specific aims. Aim 1: to identify the range of potential downstream impacts of GS for pediatric patients undergoing GS for diagnosis of rare diseases and their families, using in-depth ethnographic methods to capture perspectives of diverse stakeholders. Aim Two: To build on Aim 1 to develop a framework mapping the range of costs and benefits of GS as they relate to a) diverse stakeholder perspectives on the value of GS for diagnosis of rare diseases; and b) relevant domains of health-related quality of life (HRQL) for pediatric patients with rare diseases. Aim Three: To build on Aim 2 to develop a preference-based measure for assessing the impact of GS on HRQL specifically for pediatric patients with rare genetic diseases for use in future economic evaluations of GS. If successful, the proposed research will provide essential and timely data to guide policy recommendations for effective, ethical, and equitable implementation of GS in clinical care. Dr. Halley will achieve these aims by drawing on her current skills in ethnography and health services research, as well as on additional training in biomedical ethics, genetic and genomic testing, and health economics, to be carried out at the Stanford Center for Biomedical Ethics. Dr. Halley is already an accomplished scholar with a track record of high-quality research. The proposed training and mentored research will provide her with the additional knowledge and skills necessary to become an independent, interdisciplinary researcher examining the ELSI of new genomic technologies, with a focus on the intersection of medical anthropology, biomedical ethics, and health economics.

基因组测序 (GS) 在罕见疾病诊断方面取得的突破包括： 当今医学界最令人兴奋的事情。罕见疾病影响着美国近 3000 万人， 其中三分之二受影响的是儿童。研究表明 GS（包括外显子组和全基因组） 测序）可能能够为多达 50% 之前未确诊的患者提供诊断 广泛的临床和基因测试。然而，这些测试对患者的下游效益和成本， 家庭和医疗保健系统的定义仍然不明确，评估方法上也充满挑战。在 为了应对这些挑战，卫生经济学和政策领域的领导人呼吁开发新的、 定义和衡量 GS 价值的跨学科方法。为了确保这些方法不 不仅准确，而且符合道德，至关重要的是要考虑到价值观和偏好 参与使用 GS 诊断的各种利益相关者（即患者、家庭、临床医生、付款人） 罕见疾病，其价值通过不同的方法来定义和测量 GS 的值。 拟议研究的目标是检验我们如何能够以及我们应该如何定义和 测量 GS 对于患有罕见疾病的儿科患者的价值。该提案具有三个具体目标。目的 1：确定 GS 对接受 GS 治疗的儿科患者的潜在下游影响范围 罕见疾病及其家族的诊断，使用深入的人种学方法来捕捉罕见疾病及其家族的观点 不同的利益相关者。目标二：在目标 1 的基础上开发一个框架，映射成本范围和 GS 的好处，因为它们涉及 a) 不同利益相关者对 GS 在罕见病诊断方面的价值的看法 疾病； b) 罕见病儿科患者的健康相关生活质量 (HRQL) 相关领域 疾病。目标三：在目标 2 的基础上制定基于偏好的衡量标准，以评估 GS on HRQL 专门针对患有罕见遗传病的儿科患者，用于未来经济 对GS的评价如果成功，拟议的研究将为指导政策提供必要且及时的数据 关于在临床护理中有效、合乎道德且公平地实施 GS 的建议。 哈雷博士将利用她目前在民族志和卫生服务方面的技能来实现这些目标 研究以及生物医学伦理学、遗传和基因组测试以及健康方面的额外培训 经济学，将在斯坦福生物医学伦理中心进行。哈雷博士已经是 具有高质量研究记录的杰出学者。拟议的培训和指导 研究将为她提供成为独立、 跨学科研究人员研究新基因组技术的 ELSI，重点关注交叉点 医学人类学、生物医学伦理学和卫生经济学。