Identifying strategies to reveal genetic results over the lifespan

项目摘要/摘要 健康婴儿的广泛测序迫在眉睫：最近至少有12个研究项目 推出，有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 在他们的一生中--婴儿时期、童年后期和成年期--具有相关性的健康信息。这 造成了一个时间问题：如果婴儿在出生时被测序，这一信息应该在什么时候公布？一个 提出的基因组医学未来愿景是在信息变得相关时揭示信息，以 孩子的父母，如果需要的话，以后也可以发给个人。这就需要将基因组“存档”，以 随着时间的推移被用作一种资源。这一战略可能会通过以下方式促进终身基因组医学的伦理推广 促进儿童自主发展，优化利益与风险的平衡。然而， 这一战略的可行性、其实施的细节及其所涉问题还有待于在 严谨和经验主义的态度。或许其他方法更可取。第二个简化的战略是 在出生时透露所有与儿童有关的信息，然后让个人选择接受成人发病 信息。第三种策略将拒绝随着时间的推移将基因组用作资源，并只是 为婴儿生成一份报告，可能包括成人发病信息。这一策略可能更可取 因为使用基因组作为资源会带来复杂的伦理、法律和社会影响(ELSI)， 包括数据控制、隐私、同意、法律义务和有关何时提供信息的决策 变得相关了。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 一种策略的必要和可取的特征，可能使用基因组作为一种 随着时间的推移，资源。该项目将产生影响，产生具体的、以证据为基础的和符合道德的框架 对新生儿测序实施者的建议。这位候选人最初是作为一名 计算生物学家，以前受雇于基因组学行业，目前是ELSI学者。她 目标是成为在临床研究背景下工作的独立调查者，为采用提供信息 以识别、评估和解决ELSI问题，最终确保基因组 医学对所有人都有好处。为了实现这一目标，该提案将她的培训努力集中在a) 开发进行调查的技能，b)开发Delphi方法的专业知识，以及c)改进 概念性和规范性分析。该项目将利用BabySeq队列，这是世界上第一个经验性的 在她的导师指导下，健康新生儿的全面基因组测序研究 一队。拟议的培训将使应聘者成为一名全面的ELSI研究人员，能够部署混合 方法，同时利用她的技术背景，使她为NHGRI的目标做出贡献 制定和评估在人口一级实施基因组信息利用的战略。

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.