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Age-based genomic screening in newborns, infants, and children: a novel paradigm in public health genomics

新生儿、婴儿和儿童基于年龄的基因组筛查：公共卫生基因组学的新范例

基本信息

批准号：
10518804
负责人：
JONATHAN S BERG
金额：
$ 93.3万
依托单位：
UNIV OF NORTH CAROLINA CHAPEL HILL
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-09-14 至 2027-06-30
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10518804
关键词：
Address Adult Age Age of Onset Awareness Benefits and Risks Biological Assay Birth Child Child Care Childhood Clinic Clinical Collaborations Communities Consensus Data Decision Making Development Disease Eligibility Determination Ethics Expert Opinion Feedback Future Genetic Diseases Genetic Medicine Genomic medicine Genomics Goals Health Healthcare Individual Inherited Intervention Interview Laboratories Leadership Longevity Longitudinal Studies Measures Mendelian disorder Methods Modeling Neonatal Screening Newborn Infant Outcome Parents Pediatrics Perception Physicians Pilot Projects Population Primary Health Care Process Protocols documentation Provider Public Health Qualitative Methods Research Resources Risk Screening Result Site Specific qualifier value Symptoms Technology Time Training Treatment Efficacy Underrepresented Populations Underserved Population Variant Visit Well Child Visits Work age group base clinical trial implementation clinically actionable clinically relevant community based participatory research community clinic design economic outcome education resources genetic information genetic variant genome sequencing genome-wide health economics implementation facilitators implementation framework implementation outcomes implementation strategy implementation trial improved infancy innovation novel organizational readiness prevent primary care setting programs reduce symptoms research and development screening screening program social targeted sequencing technology validation whole genome

项目摘要

Project Summary/Abstract Genomic sequencing offers an unprecedented opportunity to identify clinically relevant genetic variants, yet there are many challenges to overcome before this technology can be applied routinely in the healthy population to identify individuals with actionable disorders in time to prevent or ameliorate symptoms. This project explores an innovative age-based genomic screening (ABGS) paradigm that aims to provide targeted and highly actionable genetic information to parents via their child’s routine wellness visits, thereby avoiding some of the more difficult aspects of genome-scale sequencing while retaining most of the benefits. We will utilize an established metric that evaluates parameters relevant to “clinical actionability” and defines the age of onset and/or the age of intervention, to identify conditions that would be applicable for screening. In collaboration with a diverse Expert Deliberative Group, we will define a consensus framework for carrying out the ABGS program using targeted sequencing panels at specified time-points during infancy and childhood. We will engage community stakeholders to raise awareness of the ABGS program and obtain critical feedback to inform the development of accessible study materials. We will apply the Genetic Medicine Implementation Research framework and utilize rigorous methods and measures to identify potential barriers and facilitators and develop strategies to address them. Finally, we will conduct a pilot project in a small number of primary care pediatrics clinics assessing preliminary outcomes, including perspectives of parents and providers, and the feasibility, acceptability, and utility of ABGS. The expected result of this proposal is a validated, stakeholder-informed, and practical ABGS program that includes hundreds of conditions that are actionable throughout the lifespan, setting the stage for a future longitudinal study in a larger number of practices that can assess clinical and health economic outcomes. Throughout this work, we will employ a community-based participatory research approach to seek out perspectives from diverse stakeholders and emphasize the importance of studying ABGS in a wide range of settings. The long-term goal of this research program is to create a broadly applicable genomic screening program that extends well beyond newborn screening and can be incorporated into routine well child care. We envision that this program will also prepare individuals to eventually make informed decisions about the potential benefits and risks of screening for adult-onset conditions during adulthood, thus creating a connection between genomic screening efforts in all age groups.

项目总结/文摘