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，数以百万计的人携带林奇综合征（LS）的致病遗传变异， 遗传性乳腺癌和卵巢癌（HBOC）和家族性高胆固醇血症（FH），哪个会议 严重但可预防的疾病的实质性风险。对于这些遗传条件，指南 - 如果知道这一点，建议的预防性健康服务可能会降低相关的发病率和死亡率 有潜在的遗传风险。但是，这些人中有一半以上保持不明状态或 仅在他们或大量亲戚被诊断为威胁生命之后才被确定 疾病。这代表了预防疾病的错失机会。因此， 科学，工程和医学的基因组学和公共卫生行动合作提供了路线图 用于人口遗传筛查计划，以改善临床上这些人的识别 可操作的条件。从2021年6月开始，北卡罗来纳大学（UNC）精确计划 医疗保健中的医学正在试用基于遗传学的基因筛查与与之相关的基因的临床产品 LS，HBOC和FH，称为“不准确的健康基因筛查测试”。该临床产品提供了 在健康人群中研究基于遗传学的筛查程序的理想机会。到 我们建议（1）审查的实施结果 测试; （2）确定并量身定制策略，以实施不准确的健康基因筛查测试； （3）检查非精度健康基因筛查测试对患者预后的影响。这 该提议的目的是更好地理解和学习不准确的实施 健康基因筛查测试，以告知潜水员的精确健康基因筛查的实施 世界临床环境。此外，这些发现将直接告知未来假设的发展 不准确的健康基因筛查测试对患者健康结果和关键的影响 通过未来的II型混合有效性研究实施结果。通过这一研究， 我们可以更好地了解基于遗传学的筛查计划的实施和有效性。这 基本的理解将为未来的工作提供信息，以实现所有人的精确健康的希望。

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.