Description
The Center for Translation Research and Implementation Science (CTRIS) and the Division of Cardiovascular Sciences (DCVS) at the National Heart, Lung and Blood Institute (NHLBI) convened multidisciplinary experts in areas of lipidology, genetics/genomics, cardiovascular health, implementation research, pediatric and adolescent care, and health disparities research to develop and prioritize recommendations to guide strategic planning for initiatives in FH research.
Background
FH, a common genetic disorder affecting 1 in 250 people in the U.S., causes high levels of low-density lipoprotein cholesterol (LDL-C) leading to premature coronary heart disease. If left untreated, men with heterozygous FH over the age of 50 have a 50% increased risk of having a fatal or non-fatal coronary event, while women have a 30% increase by the age of 60. Early intervention with LDL lowering medications, such as statins, along with lifestyle modifications can significantly reduce LDL-C levels and the likelihood of future cardiovascular events and premature death. Despite the clinical severity, less than 10% of the population with FH is diagnosed, and among those diagnosed, only half are on life-saving therapies. Critical challenges remain regarding recognizing and treating patients with FH, ensuring that cascade screening occurs in relatives of affected patients, and minimizing racial/ethnic, geographic and socioeconomic disparities in screening, detection, diagnosis, and treatment in the U.S.
Working Group Purpose and Objectives
FH represents the leading edge of genomics and precision medicine relevant to cardiovascular disease and serves as a prototype for robust late-stage translational research and implementation science agendas. The objectives of this workshop were to: 1) define the multilevel research agenda for implementing evidence-based guidelines for FH, including research at the patient-provider, health systems, state, federal, and population levels 2) define a collaborative public health-healthcare approach to identify and address healthcare disparities and 3) generate common themes and research questions that are relevant to other genomic and precision medicine applications in cardiovascular disease.