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.

摘要