Implementing and Evaluating Genetic Screening in Healthy Adults for Precision Public Health

在健康成人中实施和评估基因筛查以实现精准公共卫生

• 批准号: 10510602
• 负责人: Megan C. Roberts
• 金额: $ 42.08万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-09-01 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10510602
• 关键词: Address; Adoption; Adult; Apolipoproteins B; BRCA1 gene; BRCA2 gene; Caring; Characteristics; Clinical; DNA sequencing; Data; Development; Diagnosis; Disease; Effectiveness; Engineering; Ensure; Familial Hypercholesterolemia; Foundations; Future; Genes; Genetic; Genetic Diseases; Genetic Risk; Genetic Screening; Genomic medicine; Genomics; Goals; Guidelines; Health; Healthcare; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary Nonpolyposis Colorectal Neoplasms; Hybrids; Individual; Interview; Knowledge; Learning; Life; MLH1 gene; MSH6 gene; Measures; Methods; Morbidity - disease rate; North Carolina; Outcome; PMS2 gene; Pathogenicity; Patient Outcomes Assessments; Patient-Focused Outcomes; Patients; Penetrance; Persons; Population; Population Genetics; Precision Health; Preventive Health Services; Process; Program Effectiveness; Program Sustainability; Public Health; Reporting; Research; Risk; Surveys; Testing; United States National Academy of Sciences; Universities; Work; base; clinically actionable; clinically relevant; cost; cost efficient; effectiveness evaluation; effectiveness study; follow-up; genetic variant; implementation barriers; implementation facilitators; implementation outcomes; implementation questions; improved; mortality; population health; precision medicine; prevent; preventive intervention; programs; satisfaction; screening; screening program; theories

Abstract In the US, millions of people unknowingly carry pathogenic genetic variants for Lynch syndrome (LS), Hereditary Breast and Ovarian Cancer (HBOC), and Familial Hypercholesterolemia (FH), which confer substantially-elevated risks of serious yet preventable diseases. For these genetic conditions, guideline- recommended preventive health services might reduce associated morbidity and mortality if knowledge of this underlying genetic risk is available. However, more than half of these individuals remain unidentified or are identified only after they or a significant number of relatives have been diagnosed with life-threatening diseases. This represents a missed opportunity to prevent disease. For this reason, National Academies of Sciences, Engineering and Medicine’s Genomics and Public Health Action Collaborative provided a roadmap for population genetic screening programs to improve identification of individuals with these clinically actionable conditions. Beginning June 2021, University of North Carolina (UNC) Program for Precision Medicine in Healthcare is piloting a clinical offering for genetics-based screening for the genes associated with LS, HBOC and FH, called the UNC Precision Health Genetic Screening Test. This clinical offering provides the ideal opportunity to study the implementation of a genetics-based screen program in a healthy population. To this end we propose to (1) examine implementation outcomes of the UNC Precision Health Genetic Screening Test; (2) identify and tailor strategies for the implementation of UNC Precision Health Genetic Screening Test; and (3) examine the impact of the UNC Precision Health Genetic Screening Test on patient outcomes. The objective of this proposal is to better understand and learn from the implementation of the UNC Precision Health Genetic Screening Test to inform implementation of precision health genetic screening in diverse, real- world clinical settings. Further, these findings will directly inform the development of future hypotheses to test the effect of the UNC Precision Health Genetic Screening Test on patient health outcomes and key implementation outcomes through a future Type II Hybrid Effectiveness study. Through this line of research, we can better understand the implementation and effectiveness of a genetics-based screening program. This foundational understanding will inform future work to achieve the promise of precision health for all.

抽象的 在美国，数百万人在不知不觉中携带林奇综合征（LS）的致病基因变异， 遗传性乳腺癌和卵巢癌 (HBOC) 以及家族性高胆固醇血症 (FH)，这会导致 对于这些遗传病，指南- 严重但可预防的疾病的风险显着升高。 如果了解这一点，建议的卫生服务可能会降低相关的发病率和死亡率 然而，这些人中有一半以上仍未确定或存在潜在的遗传风险。 仅在他们或大量亲属被诊断出患有危及生命的疾病后才被识别 因此，这代表了预防疾病的机会。 科学、工程和医学的基因组学和公共卫生行动合作组织提供了路线图 用于人群遗传筛查计划，以提高对临床上患有这些疾病的个体的识别 从 2021 年 6 月开始，北卡罗来纳大学 (UNC) 精准计划。 医疗保健医学正在试点一项临床产品，用于对与以下疾病相关的基因进行基于遗传学的筛查： LS、HBOC 和 FH，称为 UNC 精准健康基因筛查测试，该临床产品提供了 研究在健康人群中实施基于遗传学的筛查计划的理想机会。 为此，我们建议 (1) 实施检查北卡罗来纳大学精准健康基因筛查的结果 测试；(2) 确定并制定实施 UNC 精准健康基因筛查测试的策略； (3) 检查北卡罗来纳大学精确健康基因筛查测试对患者结果的影响。 该提案的目的是更好地理解 UNC Precision 的实施情况并从中学习 健康基因筛查测试为在多样化、真实的环境中实施精准健康基因筛查提供信息 此外，这些发现将直接为未来测试假设的发展提供信息。 北卡罗来纳大学精密健康基因筛查测试对患者健康结果的影响和关键 通过未来的 II 型混合有效性研究的实施结果通过这一系列研究， 我们可以更好地了解基于遗传学的筛查计划的实施效果。 基础理解将为未来的工作提供信息，以实现人人享有精准健康的承诺。

项目成果

Consideration of the Beneficiary Inducement Statute on Access to Health Care Systems' Population Genetic Screening Programs.

• DOI: 10.1159/000534365
• 发表时间: 2023
• 期刊: PUBLIC HEALTH GENOMICS
• 影响因子: 1.7
• 作者: Washington, Aurora M.;Foss, Kimberly;Krause, Joan H.;Davis, Arlene M.;Kuczynski, Kristine J.;Milko, Laura, V;Berg, Jonathan S.;Roberts, Megan C.
• 通讯作者: Roberts, Megan C.