Family Heart Foundation

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.

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).

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.

Community in Action - The Community in Action Program builds, supports, mobilizes, and learns from the most important stakeholders - people living with FH, Homozygous FH ("HoFH"), and elevated Lp(a). Family Heart Foundation collaborates directly with individuals who are impacted by these inherited lipid disorders, their family members and caregivers, and medical experts to accomplish Family Heart Foundation's common goal of finding every family with FH and/or high Lp(a) and ensuring they have the opportunity to live longer, healthier lives. Critical activities of the Community in Action programs include: Outreach, Education, and Support: As the leading resource for the FH, HoFH, and Lp(a) Communities, Family Heart Foundation produces education tools and resources to ensure individuals and families have the information they need to understand their condition and advocate for their own care. Family Heart Foundation's monthly newsletters keep the Community informed of the work and the latest research in the field of inherited lipid disorders, the website receives 50,000 monthly visitors, and Family Heart Foundation's active social media channels inform and engage people across the US and worldwide.

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.

CASCADE FH Registry - To improve the understanding of the state of diagnosis, treatment, and outcomes for FH in the United States, in 2013, Family Heart Foundation launched a national FH patient registry, a key tool for FH research. Since then, Family Heart Foundation has convened a network of over forty leading clinical sites across the US, enrolled over 6,000 individuals in the Registry, who are followed annually. Family Heart Foundation, in partnership with Family Heart Foundation's principal investigators have published nineteen manuscripts, abstracts, and posters, contributing to the evidence base for healthcare decision making for FH at the patient, healthcare provider, health system, and policy levels. The Cascade Screening for Awareness and Detection of Familial Hypercholesterolemia ('CASCADE FH Registry') collects comprehensive longitudinal data on adults and children with diagnosed FH, including baseline and follow-up information on demographics, laboratory values, treatment, and clinical events. CASCADE FH Registry research has quantified gaps in care, including late diagnosis, delayed treatment, disparities in care, cardiovascular outcomes, and factors that contribute to LDL goal attainment and to cardiovascular risk. This is the only longitudinal observational research study of its kind in the US.

Family Heart Database - Family Heart Foundation has compiled a national database, known as the Family Heart Database, with the goal of improving the understanding, identification, and management of individuals at high risk for ASCVD due to inherited lipid disorders. This database provides important insights into the barriers to care along the patient journey and real-world insights into how individuals with heart disease or elevated lipids are being managed, including prescribing, coverage, fulfillment, and outcomes against a backdrop of age, ethnicity, race, sex, and income. Family Heart Foundation has fifteen peer-reviewed publications based on the Family Heart Database research to date. The Family Heart Database includes 300 million individuals in the US at risk, being treated, or being evaluated for cardiovascular disease, including laboratory results for over 112 million individuals. The Family Heart Database is an expansive source of data insights on the ASCVD, Lp(a), FH, HoFH and hypercholesterolemia populations.

Patient, Practitioner, and Payer Lipid Lowering Landscape ("PPPLLL") Analysis - The barriers to achieving guideline-recommended LDL-C goals for high-risk patients are many and are not well understood. Family Heart Foundation Patient, Practitioner, and Payer Lipid Lowering Landscape (PPPLLL) analysis utilized Family Heart Foundation's national database, and patient and provider insights, to identify the barriers to achieving LDL-C goals, and the points along the patient journey where targeted interventions with multiple stakeholders could address those barriers and improve access to care. The quantitative and qualitative insights from the PPPLLL analysis have informed the GOAL program, described below.

Getting On Appropriate Lipid Lowering ("GOAL") Program - The GOAL program aims to help more patients with severe hypercholesterolemia at high risk for primary or secondary ASCVD to reach their LDL-C goal and stay there, thereby lowering their risk for a cardiac event. Guided by the PPPLLL analysis, Family Heart Foundation has identified key points along the patient journey where multi-stakeholder interventions have the potential to improve care and where Family Heart Foundation is well positioned to have an impact. This program takes a multi-stakeholder approach, including payers, health systems, HCPs, the patient community, and partners and make the case for better care and identify actional steps to improve care. The GOAL program is leveraging Family Heart Foundation's quantitative and qualitative insights from the PPPLLL analysis to motivate key stakeholders to expand access to LDL-C goal attainment in high-risk populations. It builds on previous work Family Heart Foundation has done as part the FH Optimal Care in the US ("FOCUS") program, creating, and disseminating effective tools for patients, healthcare practitioners, policy makers, and payers, to inform diagnosis, treatment, and navigating the healthcare system.

Care Navigation Center - Family Heart Foundation provides individual support to help people living with or at risk for early heart disease due to FH, HoFH, and elevated Lp(a) through its Care Navigation Center services. Family Heart Foundation guides and support patients, family members and health care providers as they navigate the patient journey and access care. This includes connecting patients and caregivers with a specialist using Family Heart Foundation's interactive "Find a Specialist" map, offering tools and services developed by Family Heart Foundation to support diagnosis, treatment, insurance navigation, family screening, and clinical trial participation, advocating with payers to improve access to care on behalf of individual patients, and connecting patients and caregivers with peer support.

Family Heart Global Summit - The Family Heart Global Summit is the only scientific conference entirely devoted to the care and treatment of FH and elevated Lp(a). This annual event convenes world-renowned experts in FH, Lp(a), genetics, public health, healthcare policy, implementation science, and precision health. The conference features compelling and cutting-edge presentations that highlight the latest data, explore real-world implementation, and leverage perspectives from individuals with FH and elevated Lp(a) to improve identification, diagnosis, and care of inherited lipid disorders. The Family Heart Global Summit drives collaborative developments and effective solutions in an accelerated and thoughtful manner to stop premature heart disease and stroke.

Global Network - The Global Network convenes stakeholders from around the world to improve outcomes for those living with FH and elevated Lp(a). Through visionary, strategic initiatives, Family Heart Foundation serves as a global resource for patients, healthcare professionals, researchers, and policy makers around the world. The Global Network is Family Heart Foundation's effort to extend its mission and impact on a broader stage. Family Heart Foundation drives collaborative projects with the international community including impacted individuals, advocacy organizations outside of the US, clinical experts, scientific societies, and policy leaders to drive the prioritization of inherited lipid disorders as a global health concern. One of Family Heart Foundation's key Global Network efforts was to establish a collaborative effort to re-engage the World Health Organization ("WHO") to address FH as a public health hazard and to update recommendations from the 1998 WHO Report on FH. This initiative resulted in the FH Global Call to Action, published in Journal of the American Medical Association ("JAMA") Cardiology in 2020.Family Heart Foundation leadership, and members of Family Heart Foundation Scientific Advisory Board, are ambassadors for Family Heart Foundation's mission at international conferences, as leaders of professional organizations, and as principal investigators of scientific projects at major universities - key initiatives that extend our Global Network and accelerate our outreach.