{"id":5074,"date":"2020-05-05T10:32:20","date_gmt":"2020-05-05T14:32:20","guid":{"rendered":"http:\/\/blogs.cdc.gov\/genomics\/?p=5074"},"modified":"2024-04-09T16:54:12","modified_gmt":"2024-04-09T20:54:12","slug":"implementation-science-3","status":"publish","type":"post","link":"https:\/\/blogs.cdc.gov\/genomics\/2020\/05\/05\/implementation-science-3\/","title":{"rendered":"Implementation Science to Improve Case Finding, Cascade Screening, and Treatment for Familial Hypercholesterolemia: A Prototype for Precision Public Health Research"},"content":{"rendered":"

\"a<\/a>Familial Hypercholesterolemia (<\/span><\/a>FH) is a common genetic disorder, affecting more than 1 million people in the United States. FH causes lifelong high levels of low-density lipoprotein cholesterol, and if untreated, leads to a high risk of premature coronary heart disease. Most patients with FH are undiagnosed or inadequately treated with regular or high-intensity statins, leaving too many people at high risk of preventable morbidity and mortality from heart disease and stroke. Identifying and diagnosing FH and cascade screening directed at family members is a <\/span><\/span>tier 1<\/span><\/a> genomic application for public health programs. <\/span><\/span><\/p>\n

Successful implementation of cascade screening in the U.S. faces considerable challenges These include issues navigating privacy policies, provider and patient education, and limited access to genetic and medical services. In addition to <\/span>hereditary cancers<\/span><\/a>, familial hypercholesterolemia has emerged as the leading edge of implementation research in <\/span><\/span>precision<\/span><\/a> medicine.<\/span><\/span><\/p>\n

In an effort to address the implementation challenges mentioned above, the National Heart, Lung, and Blood Institute (NHLBI), in collaboration with the CDC Office of Genomics and Precision Public Health, convened an expert panel <\/span>workshop<\/span><\/a> in 2018 to discuss an implementation science agenda for FH. This workshop, along with other advances in the field discussed in annual <\/span><\/span>global FH summits<\/span><\/a> sponsored by the FH Foundation, has led to a <\/span><\/span>Funding Opportunity Announcement<\/span><\/a> (FOA) released by the NHLBI. This announcement<\/span><\/span> supports implementation research that addresses barriers that impede population-level implementation of case finding and cascade screening; explores methodologies to assess the uptake, cost-effectiveness, feasibility, and scalability of family-based cascade screening programs; and develop or improve machine learning algorithms and data mining techniques to find high-risk individuals using electronic health records.<\/span><\/p>\n

Given the scarcity of <\/span>implementation research<\/span><\/a> in genomic medicine in general, this announcement provides a unique opportunity to showcase precision approaches to human genomics by studying how to enhance finding FH patients and their relatives. <\/span><\/span><\/p>\n

Research examples of implementation science in FH include:<\/p>\n