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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.

项目总结/文摘