The Familial Hypercholesterolemia Foundation

THE MISSION OF THE FAMILY HEART FOUNDATION IS TO SAVE GENERATIONS OF FAMILIES FROM HEART DISEASE

RESEARCH PARTNERSHIPS - IN ADDITION TO RESEARCH DRAWING ON THE CASCADE FH REGISTRY AND THE FAMILY HEART DATABASE, FAMILY HEART FOUNDATION PARTNERED ON FOUR FEDERALLY-FUNDED GRANTS IN 2022. A NATIONAL INSTITUTES OF HEALTH ("NIH") GRANT WITH COLUMBIA UNIVERSITY AND BOSTON CHILDREN'S HOSPITAL UTILIZES A HEALTH POLICY COMPUTER SIMULATION MODEL TO ASSESS AND COMPARE THE SOCIETAL VALUE OF VARIOUS FH SCREENING APPROACHES. DRAWING UPON MULTIPLE DATA SOURCES AND USING COMPUTER SIMULATION MODELS OF FH SCREENING, INCLUDING USING THE FAMILY HEART DATABASE AND FIND FH MODEL, FAMILY HEART FOUNDATION TEAMS ARE WORKING TO QUANTIFY THE POTENTIAL BENEFITS AND POSSIBLE HARMS OF CHILDHOOD AND/OR ADULT TREATMENT. FAMILY HEART FOUNDATION IS FOCUSED ON DETERMINING THE OPTIMAL AGE FOR FIRST SCREENING AND THE INCREMENTAL VALUE OF ADDING CONFIRMATORY GENETIC TESTING OR FAMILY CASCADE SCREENING. ANOTHER NIH FUNDED GRANT IN PARTNERSHIP WITH GEISINGER, IMPACT-FH, IS LEARNING FROM BOTH GENETIC SCREENING AND MACHINE LEARNING METHODS FOR FLAGGING FH, INCLUDING FIND FH. ONCE AN FH DIAGNOSIS HAS BEEN MADE, THE RESEARCH TEAM IS WORKING TO OPTIMIZE AND TEST NOVEL STRATEGIES TO IMPROVE FAMILY COMMUNICATION AND UPTAKE OF CASCADE FAMILY SCREENING. THE ULTIMATE GOAL OF THIS PROGRAM IS TO UTILIZE TOOLS FROM IMPLEMENTATION SCIENCE TO DEVELOP A COMPREHENSIVE FH CASCADE SCREENING PROGRAM THAT CAN BE SCALED TO REACH MORE FAMILIES. THE BEAT FH GRANT, FUNDED BY THE DEPARTMENT OF DEFENSE PEER REVIEWED MEDICAL RESEARCH PROGRAM, IS USING FAMILY HEART FOUNDATION'S FIND FH MODEL TO "FLAG" INDIVIDUALS WITHIN THE PENN MEDICINE ELECTRONIC HEALTH RECORD DATABASE WHO WARRANT SCREENING FOR FH. FAMILY HEART FOUNDATION IS UTILIZING BEHAVIOR ECONOMICS TO DESIGN AND IMPLEMENT INNOVATIVE APPROACHES TO FACILITATE OUTREACH AND ENGAGEMENT AS WELL AS GUIDELINE-RECOMMENDED EVALUATION AND MEDICAL CARE FOR PATIENTS FLAGGED BY THE MODEL. IN ADDITION, AT PENN MEDICINE, FAMILY HEART FOUNDATION IS PARTNERING ON AN NIH FUNDED GRANT TO USE BOTH IMPLEMENTATION SCIENCE AND BEHAVIORAL ECONOMICS TO IMPROVE CASCADE FAMILY SCREENING FOR FH WHILE ADDRESSING RACIAL, ETHNIC, AND GENDER DISPARITIES. THIS RANDOMIZED CONTROLLED STUDY WILL DESIGN AND TEST MULTIPLE APPROACHES TO CASCADE FAMILY SCREENING INCLUDING DIRECT OUTREACH BY FAMILY HEART FOUNDATION'S CARE NAVIGATION TEAM.

FAMILY HEART ADVOCATES FOR AWARENESS: FAMILY HEART FOUNDATION HAS TRAINED VOLUNTEERS ACROSS THE US TO REPRESENT FAMILY HEART FOUNDATION AND SHARE THEIR STORIES TO INCREASE AWARENESS OF GENETIC DRIVERS OF PREMATURE CARDIOVASCULAR DISEASE WITHIN THE MEDICAL COMMUNITY AND PUBLIC AT LARGE. ADVOCATES SPEAK ABOUT EARLY DIAGNOSIS AND THE LIFE-SAVING IMPACT OF OPTIMAL MANAGEMENT AT MEDICAL SCHOOLS, MEDICAL CONFERENCES, HEALTH FAIRS, COMMUNITY ORGANIZATIONS, MEDIA OUTLETS, AND CONGRESSIONAL OFFICES ON CAPITOL HILL. THESE VOLUNTEERS SERVE AS PEER SUPPORTERS. COMMUNITY FORUM: EVERY YEAR, FAMILY HEART FOUNDATION CONVENES FH AND NOW LP(A) FAMILIES ACROSS THE US AT THE COMMUNITY FORUMS AND PROVIDES THEM WITH A PLATFORM TO MEET OTHERS WITH LIVING WITH GENETIC LIPID DISORDERS, CONNECT WITH EXPERTS IN THE FIELD, AND LEARN ABOUT HOW TO OPTIMALLY MANAGE THEIR DIAGNOSIS AND TREATMENT. THE COMMUNITY FORUMS ADDRESS THE SENSE OF ISOLATION MANY FEEL LIVING WITH FH, HOFH, OR ELEVATED LP(A) AND INSPIRE THEM TO GET INVOLVED WITH FAMILY HEART FOUNDATION TO CHANGE SCREENING, DIAGNOSIS, AND DAILY LIFE FOR THOSE BORN AT RISK OF EARLY HEART DISEASE AND STROKE. ADVOCACY AND PUBLIC POLICY EFFORTS: OVER THE LAST TEN YEARS, FAMILY HEART FOUNDATION HAS ENGAGED WITH FEDERAL, STATE, AND LOCAL ELECTED AND APPOINTED OFFICIALS TO INFLUENCE POLICY AND ACTIONS FOR FH. FAMILY HEART FOUNDATION HAS AN ACTIVE VOICE ON CAPITOL HILL, WITH HEALTH TECHNOLOGY ASSESSMENT BODIES, THE FOOD AND DRUG ADMINISTRATION ("FDA"), THE CENTERS FOR MEDICARE AND MEDICAID SERVICES ("CMS"), THE CENTERS FOR DISEASE CONTROL AND PREVENTION ("CDC") AND THE U.S. PREVENTIVE SERVICES TASK FORCE TO ENSURE THE NEEDS OF THE FH POPULATION ARE MET. FAMILY HEART FOUNDATION IS NOW BEGINNING ITS ADVOCACY EFFORTS IN THE LP(A) ARENA.

FIND FH - FLAG/IDENTIFY/NETWORK/DELIVER IS A NATIONAL PRECISION SCREENING INITIATIVE THAT UTILIZES MACHINE LEARNING, NATURAL LANGUAGE PROCESSING, AND DATA MINING TECHNIQUES TO IDENTIFY INDIVIDUALS WHOSE PROFILES ARE CONSISTENT WITH FH. FIND FH INCLUDES THE DEVELOPMENT, VALIDATION, AND IMPLEMENTATION OF DATA MODELS TO FLAG INDIVIDUALS WHO NEED TO BE SCREENED BY A CLINICIAN FOR A POSSIBLE FH DIAGNOSIS. THIS INITIATIVE DIRECTLY ADDRESSES THE FACT THAT MOST INDIVIDUALS WITH FH ARE CURRENTLY UNDIAGNOSED AND DO NOT HAVE THE OPPORTUNITY TO REDUCE THEIR RISK OF EARLY AND AGGRESSIVE CARDIOVASCULAR DISEASE. THE FIND FH MODEL SEARCHES HEALTHCARE ENCOUNTER DATA SETS INCLUDING LAB RESULTS, CLAIMS DATA, AND ELECTRONIC HEALTH RECORD SYSTEMS. WITH THE RESULTS, FAMILY HEART FOUNDATION IDENTIFIES HEALTHCARE PROVIDERS (HCPS) WITH PATIENTS WHO HAVE MEDICAL RECORDS CONTAINING KEY FEATURES CONSISTENT WITH AN INDIVIDUAL HAVING FH.NATIONALLY, FIND FH HAS IDENTIFIED OVER 1.3 MILLION INDIVIDUALS WITH PROFILES CONSISTENT WITH FH. FAMILY HEART FOUNDATION IS IMPLEMENTING HCP AND INDIVIDUAL ENGAGEMENT PRACTICES AT MULTIPLE MAJOR HEALTH SYSTEMS PARTICIPATING IN THE FLAG IDENTIFY NETWORK DELIVER COLLABORATIVE LEARNING NETWORK ("FIND CLN"). THESE LARGE-SCALE IMPLEMENTATION PROJECTS ARE DESIGNED TO REDUCE BARRIERS TO EVIDENCE-BASED CARE AND TO IMPROVE PATIENT OUTCOMES. AT EACH HEALTH SYSTEM, FAMILY HEART FOUNDATION ENGAGES STAKEHOLDERS AND ACT AS A HUB FOR LEARNING ACROSS ROLES WITHIN THE HEALTH SYSTEM. FAMILY HEART FOUNDATION HAS IDENTIFIED AND ADDRESSED NUMEROUS BARRIERS AND FACILITATORS TO IMPLEMENTATION. THIS GROWING EXPERTISE POSITIONS US AS A LEADING ORGANIZATION TO IMPLEMENT FH PROGRAMS IN CLINICAL SETTINGS ACROSS THE US. IN THE FUTURE, FAMILY HEART FOUNDATION HOPES TO EXPAND ITS FIND EFFORTS TO IDENTIFY THOSE AT RISK FOR HIGH LIPOPROTEIN(A).