Identifying strategies to reveal genetic results over the lifespan

项目总结/摘要 健康婴儿的广泛测序迫在眉睫：最近至少有十几个研究项目 该项目启动后，有几家公司提供新生儿基因筛查小组。新生儿的基因组可能包含 在他们的整个生命周期中-婴儿期、儿童后期和成年期-提供相关的健康信息。这 提出了一个时间问题：如果婴儿在出生前被测序，那么这些信息应该在什么时候被披露？一 对基因组医学未来的设想是，当信息变得相关时， 孩子的父母，如果愿意，以后再给个人。这就需要将基因组保存在“档案”中， 作为一种资源，随着时间的推移。这一战略可能会促进终身基因组医学的伦理推广， 促进发展中儿童的自主性，优化利益与风险的平衡。但 这一战略的可行性，其实施细节，以及其影响尚待探讨， 严谨和经验的方式。也许其他方法更可取。第二个简单的战略是 在出生时透露所有与儿童时期相关的信息，然后让个人选择接受成人发作 18岁时的信息第三种策略是拒绝将基因组作为一种资源， 为婴儿生成一份报告，可能包括成人发病信息。这种策略可能更可取 因为使用基因组作为资源会引起复杂的伦理、法律的和社会问题（ELSI）， 包括数据控制、隐私、同意、法律的义务，以及关于信息何时 变得相关。对于这些不同的战略，本项目将1）确定其可行性，2）评估其 ELSI，3）了解来自不同背景的父母的偏好，以及4）就 必要的和理想的功能，为战略排序婴儿接近出生，可能使用基因组作为一个 资源随着时间的推移。该项目将产生具体的、以证据为基础的和道德框架的影响， 对新生儿测序实施者的建议。该候选人最初接受的培训是 计算生物学家，曾受雇于基因组学行业，目前是ELSI学者。她 我的目标是成为一名独立的研究者，在临床研究的背景下工作，为采用提供信息。 的基因组医学，以确定，评估和解决ELSI问题，最终确保基因组， 医学是造福于所有人的。为了实现这一目标，本提案将她的培训工作集中在a） 发展进行调查的技能，B）发展德尔菲方法的专门知识，以及c）改进以下技能： 概念和规范分析。该项目将利用BabySeq队列，这是世界上第一个经验性的 健康新生儿的综合基因组测序研究，由她的导师指导 团队拟议的培训将使候选人成为一个全面的ELSI研究员，能够部署混合 方法，同时利用她的技术背景，准备她有助于NHGRI的目标， 制定和评估在人口一级使用基因组信息的战略。

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.