An ELSI-Integrated Evaluation of the Family-Level Utility of Pediatric Genomic Sequencing

儿科基因组测序家庭级效用的 ELSI 综合评估

• 批准号: 10767605
• 负责人: Hadley Stevens Smith
• 金额: $ 24.9万
• 依托单位: HARVARD PILGRIM HEALTH CARE, INC.
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-03-13 至 2026-02-28
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10767605
• 关键词: Affect; American; Area; Award; Biological; Child; Childhood; Clinic; Clinical; Communication; Country; Data; Decision Making; Development Plans; Effectiveness; Ethical Theory; Ethics; Evaluation; Family; Family Study; Family member; Genetic; Genetic Diseases; Genetic Screening; Genomic medicine; Genomics; Goals; Guidelines; Health; Health Policy; Individual; Insurance Coverage; Interview; Measurement; Measures; Medical Ethics; Medical Genetics; Medical center; Medicine; Mentors; Mentorship; Methodology; Methods; Modeling; Nature; Outcome Assessment; Outcome Measure; Outcomes Research; Parents; Pathway interactions; Patient Preferences; Patients; Pediatrics; Phase; Physicians; Policies; Policy Analysis; Process; Qualitative Research; Recommendation; Research; Research Methodology; Research Personnel; Research Project Grants; Resources; Sampling; Science; Structure; Testing; Training; Weight; Work; career; career development; clinical care; clinical implementation; clinically relevant; college; comparative effectiveness; comparative effectiveness analysis; diagnostic tool; economic evaluation; effectiveness evaluation; ethical, legal, and social implication; evidence base; exome sequencing; experimental study; follow-up; health economics; improved; individual patient; innovation; medical schools; models and simulation; pediatric patients; population health; preference; professor; programs; research clinical testing; screening guidelines; skills; tenure track; uptake

PROJECT SUMMARY/ABSTRACT Substantial resources have been devoted to policy evaluation of clinical genomic sequencing that hinge on the conceptualization and measurement of utility. However, most evaluations fail to capture the full utility of genomic sequencing because they do not account for impact on family members. Pediatrics is a clinical area in which study of family impact is imperative due to the clinical nature of genetic disorders that manifest in childhood and the patient-parent-physician decision-making context, in addition to potential identification of patients’ biologic relatives who may benefit from genetic screening. Although traditional decision science methods for health economic evaluation produce evidence in the form decision-makers rely upon, they tend to focus on the individual patient and do not consider the ethical, legal, and social implications (ELSI) of testing for families. Cross-disciplinary effort is necessary integrate ELSI issues that influence clinical implementation and family preferences using decision science methods for robust modeling and outcomes assessment. This Pathway to Independence Award (K99/R00) will equip the candidate, a health economist, with expertise in ELSI in order to conduct innovative research using decision science methodology that integrates ELSI considerations. The candidate’s career goal is to be a tenure track professor with an independent research program to meaningfully evaluate the impact of genomic medicine and expand the evidence base for policy decisions about its implementation. The goal of the proposed research is to develop a clinically relevant and ELSI-informed model to assess family-level impact of genomic sequencing in the context of pediatric clinical care. Based in the Center for Medical Ethics and Health Policy at Baylor College of Medicine, the candidate will pursue training in three domains during the mentored phase of the project (K99): (1) ELSI, including qualitative research methods and normative ethics; (2) pediatric genetics clinical context; (3) advanced decision science methods, including patient preference elicitation and decision analytic modeling. The training will be applied to conduct research to better understand the utility of pediatric clinical genomics at the family level by considering ELSI and family preferences. The specific aims of the research project are: (1) identify relevant attributes and normative values for family-level evaluation of pediatric genomic sequencing; (2) examine how parents value those attributes of genomic sequencing using a discrete choice experiment; (3) develop a decision analytic model of family-level impact of pediatric genomic sequencing to examine its use as a diagnostic tool and explore the importance of including ELSI and family preferences in utility measures. This project will have high impact by advancing utility assessment of genomic medicine to better guide clinical and policy decision- making. Results will inform clinical guidelines, reimbursement strategies, and ethical implementation of pediatric genomic sequencing to improve patient and population health.

项目概要/摘要 临床基因组测序的政策评估已投入大量资源，这取决于 然而，大多数评估未能捕捉到效用的全部效用。 基因组测序，因为它们不考虑对家庭成员的影响，是儿科的一个临床领域。 由于遗传性疾病的临床性质，对家庭影响的研究势在必行。 童年和患者-父母-医生的决策背景，以及潜在的识别 患者的亲生亲属可能会从传统的决策科学中受益。 卫生经济评估方法以决策者所依赖的形式提供证据，他们倾向于 关注个体患者，不考虑测试的伦理、法律和社会影响 (ELSI) 对于家庭来说，需要跨学科的努力来整合影响临床实施的 ELSI 问题。 和家庭偏好，使用决策科学方法进行稳健的建模和结果评估。 独立之路奖 (K99/R00) 将为健康经济学家候选人提供以下方面的专业知识 ELSI 旨在使用集成 ELSI 的决策科学方法进行创新研究 候选人的职业目标是成为具有独立研究的终身教授。 有意义地评估基因组医学的影响并扩大政策证据基础的计划 有关实施的决定 拟议研究的目标是开发临床相关的和 ELSI 知情模型可评估儿科临床背景下基因组测序对家庭层面的影响 候选人将在贝勒医学院的医学伦理和健康政策中心工作。 在项目 (K99) 的指导阶段进行三个领域的培训：(1) ELSI，包括定性 研究方法和规范伦理；（2）儿科遗传学临床背景；（3）高级决策科学； 方法，包括患者偏好诱导和决策分析建模。 进行研究以更好地了解儿科临床基因组学在家庭层面的效用，考虑 ELSI 和家庭偏好 该研究项目的具体目标是： (1) 确定相关属性和 (2)考察父母的价值观 (3) 制定决策分析 儿科基因组测序对家庭层面影响的模型，以检查其作为诊断工具的用途和 探索将 ELSI 和家庭偏好纳入公用事业措施的重要性。 通过推进基因组医学的效用评估来更好地指导临床和政策决策，从而产生影响 结果将为临床指南、报销策略和道德实施提供信息。 儿科基因组测序可改善患者和人群的健康。