NEWS & EVENTS
Reducing the Population Burden of Familial Hypercholesterolemia (FH): A Prototype for Translation Research and Implementation Science in Genomics and Precision Medicine
November 14 - 15, 2018
NIH, Building 31, Room 6C-10, Bethesda, MD
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.

Recap

Key High-Level Recommendations

The overall goal was to determine the opportunites for implementation science addressing FH across the life stages. Discussions were centered around 4 major focal areas, Finding FH Patients: From Infancy to Adulthood, Cascade Screening for FH, Optimizing Treatment Strategies and Improving Outcomes, and Multilevel Systems Approaches to Reduce the Population Burden of FH. Several key recommendations were discussed including the following: developing a set of national FH diagnostic clinical criteria in the U.S.; developing a universal screening approach for hypercholesterolemia in newborns and young children and greater lipid screening in the general population; engaging the patient community to help increase public awareness of FH; developing or leveraging innovative clinical decision support tools to educate practitioners and patients; determining barriers and facilitators to cascade screening across the implementation science care models; understanding the barriers for young adults with FH transitioning off of their parents healthcare plans to independent care; diversifying FH studies to include underrepresented and underserved groups; and determing the evidence gaps for FH that are impeding successful implementation science efforts.   

Publication Plans

The meeting participants will develop a workshop report, highlighting the main objectives of the meeting and key recommendations. The report will be published in a peer reviewed journal.

NHLBI Contact

Whitney L. Barfield, Ph.D.

Center for Translation Research and Implementation Science

National Heart, Lung, and Blood Institute

NIH

whitney.barfield@nih.gov

Working Group Participants

Organizing Committee

Whitney L. Barfield, Ph.D., CTRIS, NHLBI

Cheryl Anne Boyce, Ph.D., CTRIS, NHLBI

Jazmin Bustillo, B.A., CTRIS, NHLBI
Jennifer Curry, M.P.H., CTRIS, NHLBI

CAPT Michael Engelgau, M.D., M.S., FACP, CTRIS, NHLBI

Lawrence Fine, Ph.D., Dr.P.H., DCVS, NHLBI

Muin Khoury, M.D., Ph.D., CDC

George A. Mensah, M.D., FACC, CTRIS, NHLBI

Mollie Minear, Ph.D., DCVS, NHLBI

Pothur Srinivas, Ph.D., M.P.H., DCVS, NHLBI

Presenters, Moderators, and Discussants

Zahid Ahmad, M.D., UT Southwestern Medical Center

Catherine Davis Ahmed, Vice President, The FH Foundation

Seth J. Baum, M.D., FACC, FACPM, FAHA, FNLA, FASPC, Florida Atlantic University Medical School

Cheryl Anne Boyce, Ph.D., CTRIS, NHLBI

David Chambers, D.Phil., NCI, NIH

Sarah D. deFerranti, M.D., M.P.H., Harvard Medical School

CAPT Michael Engelgau, M.D., M.S., FACP, CTRIS, NHLBI

Lawrence Fine, M.D., Dr.P.H., DCVS, NHLBI

Yuling Hong, M.D., M.Sc., Ph.D., CDC

Laney K. Jones, PharmD, M.P.H., Geisinger

Amit Khera, M.D., Massachusetts General Hospital

Muin Khoury, M.D., Ph.D., CDC

Joshua W. Knowles, M.D., Ph.D., Stanford University Medical Center & The FH Foundation

Iftikhar J. Kullo, M.D., Mayo Clinic

Latrice Landry, M.S., Ph.D., M.Sc., Harvard Medical School

Mollie Minear, Ph.D., DCVS, NHLBI

Patrick M. Moriarty, M.D., University of Kansas Medical Center

Michael F. Murray, M.D., FACMG FACP, Yale School of Medicine

Daniel Rader, M.D., University of Pennsylvania

Megan C. Roberts, Ph.D., The University of North Carolina at Chapel Hills

Laurence S. Sperling, M.D., FACC, FAHA, FACP, FASPC, Emory University School of Medicine

Karol Watson, M.D., Ph.D., University of California Los Angeles

William Weintraub, M.D., MedStar Washington Hospital Center

Katherine A. Wilemon, Founder, The FH Foundation

Marc S. Williams, M.D., FAAP, FACMG, FACMI, Geisinger

NIH Staff Attendees

Whitney Barfield, Ph.D., CTRIS, NHLBI

Cheryl Anne Boyce, Ph.D., CTRIS, NHLBI

Jazmin Bustillo, B.A., CTRIS, NHLBI

David Chambers, D.Phil., NCI, NIH

Jennifer Curry, M.P.H., CTRIS, NHLBI

CAPT Michael Engelgau, M.D., M.S., FACP, CTRIS, NHLBI

Kathleen N. Fenton, M.D., M.S., CTRIS, NHLBI

Lawrence Fine, M.D., Dr.P.H., DCVS, NHLBI

Cashell E. Jaquish, Ph.D., DCVS NHLBI

George A. Mensah, M.D., FACC, CTRIS, NHLBI

Mollie Minear, Ph.D., DCVS, NHLBI

Mark E. Parker, CTRIS, NHLBI

Pothur R. Srinivas, Ph.D., M.P.H., DCVS, NHLBI

Catherine Stoney, Ph.D., DCVS, NHLBI

Jenelle Walker, Ph.D., CTRIS, NHLBI