Identifying strategies to reveal genetic results over the lifespan

确定揭示一生中遗传结果的策略

• 批准号: 10739918
• 负责人: Anna Lewis
• 金额: $ 17.98万
• 依托单位: BRIGHAM AND WOMEN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-01 至 2025-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10739918
• 关键词: Address; Adoption; Adult; Age; Attitude; Birth; Child; Childhood; Clinical; Clinical Research; Clinical Trials; Complex; Consensus; Consent; Data; Decision Making; Development; Educational workshop; Enrollment; Ensure; Equilibrium; Equity; Ethics; Future; Gene Targeting; Genetic; Genetic Diseases; Genetic Screening; Genome; Genomic medicine; Genomics; Goals; Government; Health; Health Personnel; Healthcare; Individual; Industry; Interview; Laboratories; Legal Obligations; Longevity; Medical; Mentors; Mentorship; Methodology; Methods; National Human Genome Research Institute; Newborn Infant; Parents; Pediatric Oncologist; Policies; Population; Privacy; Process; Provider; Recommendation; Registries; Reporting; Research; Research Personnel; Research Project Grants; Resources; Risk; Science; Series; Specific qualifier value; Structure; Surveys; Technology; Testing; Time; Training; United States National Institutes of Health; Vision; Work; career; cohort; design; ethical, legal, and social implication; evidence base; genetic counselor; genetic information; genetic testing; legal implication; member; novel; preference; primary care provider; research clinical testing; screening panel; skills; social implication; study population; targeted treatment

PROJECT SUMMARY/ABSTRACT The widespread sequencing of healthy babies is imminent: at least a dozen research projects have recently launched, and several companies offer newborn genetic screening panels. A newborn’s genome can contain health information of relevance across their lifespan — as a baby, later in childhood, and in adulthood. This poses a timing issue: if babies are sequenced near birth, when should this information be revealed? A proposed vision for the future of genomic medicine is to reveal information as it becomes relevant, to the child’s parents and later, if desired, to the individual. This would necessitate the genome being kept “on file,” to be used as a resource over time. This strategy may promote the ethical rollout of lifelong genomic medicine by promoting the developing child’s autonomy and optimizing the balance of benefits to risks. However, the feasibility of this strategy, the details of its implementation, and its implications have yet to be explored in a rigorous and empirical manner. Perhaps other approaches are preferable. A second, simplified, strategy would reveal all childhood-relevant information at birth and then give the individual the option of receiving adult-onset information at age 18. A third strategy would reject using the genome as a resource over time, and just generate one report for a baby, potentially including adult-onset information. This strategy may be preferable because the use of the genome as a resource raises complex ethical, legal, and social implications (ELSI), including data control, privacy, consent, legal obligations, and decision making about when information becomes relevant. For these different strategies, this project will 1) Determine their feasibility, 2) Assess their ELSI, 3) Understand the preferences of parents from diverse backgrounds, and 4) Develop consensus on the necessary and desirable features for a strategy to sequence babies near birth, possibly using the genome as a resource over time. The project will have impact by producing concrete, evidence-based and ethically framed recommendations for implementers of newborn sequencing. The candidate was originally trained as a computational biologist, was formerly employed in the genomics industry, and is currently an ELSI scholar. Her goal is to become an independent investigator working in the context of clinical research informing the adoption of genomic medicine to identify, assess and address ELSI questions, ultimately to ensure that genomic medicine works to the benefit of all. To accomplish this goal, this proposal focuses her training efforts on a) developing skills in conducting surveys, b) developing expertise in Delphi methods, and c) refining skills in conceptual and normative analysis. The project will leverage the BabySeq cohorts, the world’s first empirical studies of comprehensive genomic sequencing in healthy newborns, directed by members of her mentorship team. The proposed training will make the candidate a well-rounded ELSI researcher able to deploy mixed methodologies while leveraging her technical background, preparing her to contribute to NHGRI’s goal of developing and assessing strategies for implementing the use of genomic information at the population level.

项目摘要/摘要 健康婴儿的宽度测序即将到来：最近至少有十几个研究项目 推出，几家公司提供新生儿基因筛查面板。新生儿的基因组可以包含 健康信息在其寿命中的相关性 - 作为婴儿，童年后期和成年。这 提出一个时机问题：如果婴儿在附近分娩，什么时候应该透露这些信息？一个 拟议的对基因组医学未来的愿景是揭示信息的相关信息，与 孩子的父母，后来（如有愿意）给个人。这将有必要“归档”的基因组 随着时间的流逝，用作资源。该策略可以通过 促进发展中儿童的自主权并优化风险福利的平衡。但是， 这种策略的可行性，其实施的细节以及其含义尚未在一个 严格而经验的方式。也许其他方法是首选。第二个简化的策略将 揭示出生时所有与儿童相关的信息，然后给个人选择接受成人的信息 18岁时的信息。随着时间的推移，第三种策略将拒绝使用基因组作为资源，而公正 为婴儿生成一个报告，可能包括成人发作的信息。此策略可能是可取的 因为将基因组作为一种资源提高了复杂的道德，法律和社会影响（ELSI），所以 包括数据控制，隐私，同意，法律义务以及有关信息何时的决策 变得相关。对于这些不同的策略，该项目将确定其可行性，2）评估他们的 Elsi，3）了解来自潜水员背景的父母的偏好，以及4）在 策略在出生附近对婴儿进行序列的必要特征，可以将基因组作为一个 随着时间的推移资源。该项目将通过生产具体，基于证据的和道德的框架来产生影响 针对新生儿测序实施者的建议。候选人最初被培训为 计算生物学家以前从事基因组学业，目前是ELSI科学。她 目标是成为在临床研究的背景下工作的独立研究者，以告知采用 基因组医学以识别，评估和解决ELSI问题，最终确保基因组 医学为所有人的利益工作。为了实现这一目标，该提案将她的培训工作重点放在A） 培养进行调查的技能，b）发展Delphi方法方面的专业知识，c）精炼技能 概念和正常分析。该项目将利用世界上第一个经验 由她的心态成员指导的健康新生儿中综合基因组测序的研究 团队。拟议的培训将使候选人成为全面的ELSI研究人员，能够部署混合 利用她的技术背景的方法，为她做好了为NHGRI的目标做出贡献的方法 制定和评估在人群层面实施基因组信息使用的策略。