Identifying strategies to reveal genetic results over the lifespan

确定揭示一生中遗传结果的策略

基本信息

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
项目类别：
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

项目摘要

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.

项目概要/摘要对健康婴儿进行广泛的测序迫在眉睫：最近至少有十几个研究项目推出，一些公司提供新生儿基因筛查面板，新生儿的基因组可能包含。与他们一生相关的健康信息——婴儿期、童年期和成年期。提出了一个时间问题：如果婴儿在出生时进行测序，该信息应该何时披露？基因组医学未来的拟议愿景是揭示与人类相关的信息孩子的父母，如果需要的话，也可以随后提供给个人，这将需要将基因组“存档”。随着时间的推移，这一策略可能会促进终身基因组医学的伦理推广。促进孩子的自主性并优化利益与风险的平衡。该战略的可行性、实施细节及其影响还有待进一步探讨。也许其他方法更可取，即简化的策略。在出生时透露所有与童年相关的信息，然后让个人选择接受成年发病 18 岁时获取信息。第三种策略是拒绝随着时间的推移使用基因组作为资源，而只是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产生复杂的伦理、法律和社会影响（ELSI），包括数据控制、隐私、同意、法律义务以及有关何时信息的决策对于这些不同的策略，该项目将 1) 确定其可行性，2) 评估其可行性。 ELSI，3) 了解不同背景的家长的偏好，以及 4) 就以下方面达成共识：对临近出生的婴儿进行测序的策略所必需和理想的特征，可能使用基因组作为随着时间的推移，该项目将通过产生具体的、基于证据的和道德框架来产生影响。给新生儿测序实施者的建议该候选人最初接受过培训。计算生物学家，曾在基因组学行业工作，目前是 ELSI 学者。目标是成为一名在临床研究背景下工作的独立研究者，为采用提供信息基因组医学的识别、评估和解决 ELSI 问题，最终确保基因组学为了实现这一目标，本提案将她的培训工作重点放在：培养进行调查的技能，b) 培养德尔菲法的专业知识，以及 c) 完善以下方面的技能：该项目将利用世界上第一个实证分析 BabySeq 队列。由她的导师成员指导的健康新生儿综合基因组测序研究拟议的培训将使候选人成为能够部署混合的全面的 ELSI 研究人员。方法论，同时利用她的技术背景，帮助她为 NHGRI 的目标做出贡献制定和评估在人口水平上实施基因组信息使用的战略。