Founder and CEo of FH Foundation
Category of Humanitarian Benefit: Health and Medical
Short Biography/Background of the Nominee: Katherine Wilemon is the Founder and CEO of the FH Foundation, a patient-centered non-profit organization dedicated to saving the lives of people with familial hypercholesterolemia (FH) through research, advocacy and education. FH is a common autosomal-dominant genetic condition that causes early heart disease and very high cholesterol. It is the genetic condition that kills most individuals in the world, has a prevalence of ~1:250 worldwide, yet less than 90% of people with FH are diagnosed today. This leaves over 1 million people in the U.S. and 30 million worldwide at high risk for early heart disease and early death. (20% of heart attacks under the age of 45 are caused by FH. Untreated, men with FH have a 50% risk of having a heart attack by age 50; women a 30% chance by age 60. Individuals who inherit FH from both of their parent can develop serious heart disease even as young children.)
In 2011, Katherine’s concern for the lack of understanding and awareness surrounding this life-threatening disorder led her to establish the FH Foundation. She became an influential leader and catalyst leveraging the latest technological innovations to help find individuals and families with the FH so that they can receive the care they need to save their lives.
Along with her work at the FH Foundation, Katherine co-leads the Cascade Screening Working Group of the National Academy of Medicine’s Genomics and Population Health Action Collaborative. This Collaborative is focused on family screening of the three Tier 1 genomic applications as identified by the Centers for Disease Control and Prevention, Office of Public Health Genomics: Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome and familial hypercholesterolemia. She has spoken to thousands of people across the US and internationally in her effort to bring FH into focus, both for the public and the medical community. Katherine has also co-authored a number of articles published in peer-reviewed journals.
Project Name and Description: The FH Foundation, founded by Katherine Wilemon in 2011, is a leading research and advocacy non-profit organization focused on reducing heart disease by driving scientific understanding and evidence- based care of FH. The mission of the FH Foundation is to save lives by contributing to scientific research that leads to greater understanding and improved diagnosis and treatment of familial hypercholesterolemia (FH). The Foundation works in partnership with patients, clinicians, data scientists and all participants in the healthcare ecosystem to develop innovative solutions to overcome barriers to diagnosis and treatment. FH is the most common inherited cause of premature death, typically due to heart attacks. FH affects ~ 1:250 people across the globe. Every minute, a baby is born with FH worldwide. Despite this high prevalence and the fact that discovery of the main defect causing FH was awarded a Nobel prize in 1986, the vast majority of physicians are still unaware of the condition, and at the time the FH Foundation was founded in 2011, an estimated 90% Americans with the condition were undiagnosed. FH can be easily recognized as it typically causes very high cholesterol (at least twice the average value in the general population) and is passed from generation to generation. Identifying patients at a young age and starting treatment early in life (preferably in adolescence) will prevent over 75% of premature heart attacks.
In 2011, familial hypercholesterolemia was virtually invisible within the medical and public health community. There was no mechanism for physicians to document their patients with FH because there was no ICD-10 code to distinguish FH from other forms of high cholesterol (an ICD-10 code is an international diagnosis code that helps track conditions). There was no clinical registry of patient data to illuminate insights into the natural history of the disorder, and no way of identifying all of the 1.3 million Americans with FH who are unaware that they are at high risk for heart disease.
Katherine has led the FH Foundation (www.thefhfoundation.org) to fill this extraordinary knowledge gap in American medicine. Since its founding just seven years ago, the FH Foundation has achieved international recognition for its advocacy, research, and innovation.
One of the FH Foundation’s most impactful innovations has been FIND FH® (Find/Identify/Network/Deliver), an ambitious, comprehensive initiative that directly addresses the fact that 90% of FH are currently undiagnosed and thus do not have the opportunity to reduce their risk of early and aggressive cardiovascular disease. FIND FH comprises three elements: (1) lab results and claims data mining, (2) electronic health records data mining, and (3) healthcare provider (HCP) and individual engagement Under Katherine’s direction, the FH Foundation developed, validated, and implemented a series of machine-learning algorithms to flag individuals with medical profiles consistent with FH for a possible FH diagnosis. The algorithms searched more than 350 data points of de-identified lab and claims data from more than 200 million Americans. Data included:
• Lab results related to lipids, cholesterol, and/or triglycerides
• ICD-9 codes and their frequencies
• Procedure codes and their frequencies
• Prescription codes for CVD and co-morbidities
• Patient age, gender, and other demographic data
FIND FH identified more than one million unique patient records with probable FH. The validated results of the FIND FH algorithms were aggregated to the healthcare provider (HCP) level, highlighting groups in ranges from HCPs with the most probable FH patients to those with the fewest probable FH patients. Now the FH Foundation is working with individual HCPs and health systems (e.g., University of Pennsylvania, Oregon Health & Science University to identify probable FH patients*. (Note: FIND FH is not a diagnostic tool, and clinical diagnosis must come from an HCP.)
The FH Foundation enables ground-breaking research. The Foundation launched and maintains the national CASCADE FH® Registry, which collects longitudinal data through partnership with 40 clinical sites, as well as an innovative online portal that allows patients to self-enroll and follow their own progress. The FH CASCADE Registry is now the largest registry collecting longitudinal data on the natural history of FH in the world. Critical findings from the Registry so far include demonstrating that 1) today, heart attacks occur in FH patients at the same age as they did 40 years ago in the United States, despite the introduction of highly effective statin medications which have improved the prognosis for FH overseas, 2) FH patients are dramatically under-treated compared to the general population with regard to cardiovascular risk, and 3) major disparities in FH care exist for women and minorities. The FH Foundation advances optimum clinical care of FH through healthcare provider education programs and scientific meetings of the highest caliber, including the annual FH Global Summit. The Summit convenes patients, doctors, policy leaders, scientists, epidemiologists, genetic counsellors, and pharmacologists for the purpose of sharing ideas and developing important scientific statements and guidelines that when published describe the standard by which the world’s health care providers should treat FH. Past speakers have included Nobel Laureates Joseph Goldstein and Michael Brown, pioneer in women’s cardiovascular health, Dr. Nanette Wenger, as well as Dr. Avedis Khachadurian , Dr. George Mensah and Dr. Atul Butte. https://thefhfoundation.org/2018-fh-global-summit
Other key FH Foundation accomplishments led by Katherine include:
• Establishing FH Awareness Day (September 24), which is now recognized around the world.
• Publication in 20 peer-reviewed journals, including American Journal of Cardiology, Journal of American Medical
Association, Circulation, Journal of Clinical Lipidology, American Heart Journal and more.
• Advocating for the adoption of a unique ICD-10 code for FH in 2016 (E78.01), which has since been used in the health
records of more than 190,000 patients.
• Creating an online FH specialist map of more than 450 providers so that patients can find a physician who understands
their unique condition.
• Convening more than 30 international experts, along with individuals with FH, to develop a consensus statement on
the role of genetic testing, which was published in the Journal of the American College of Cardiology.
• Developing an FH Diagnosis app that can be used by either physicians or lay people.
• Arming people with FH with information via the FH Foundation website (which as an average of 40,000 visitors per
month), publications, brochures (available in 11 languages), webinars and invitations to meetings so they can advocate
for optimal treatment for themselves and their families.
• Using social media as well as in-person meetings to create a close-knit, caring and engaged community of FH patients
and caregivers who support and education one another, regardless of geographic distances.
These advocacy and research strategies have received international recognition because of their innovation and their impact. Katherine and other FH Foundation representatives are routinely invited to speak at leading national and international forums including the National Institutes of Health (NIH), Centers for Disease Control and Prevention (CDC), American Heart Association Scientific Sessions, and the World Heart Federation. Today, the FH Foundation serves as a role model for other countries as well as private citizens who are interested in founding advocacy organizations.
* The FH Foundation, in collaboration with healthcare data providers, developed a data de-identification and re- identification process that is HIPAA compliant. Patient identities are maintained but encrypted within FIND FH, thus protecting corporate sponsors from seeing the sensitive information, even inadvertently. When HCP seeks the identity of a probable FH patient who has been identified for further screening through FIND FH, the HCP will contact a covered The FH Foundation, in collaboration with healthcare data providers, developed a data de-identification and re- identification process that is HIPAA compliant.
Humanitarian Benefit: In seven years, the FH Foundation has evolved from startup to full speed as a globally recognized research and advocacy organization, thanks to the vision and leadership of Katherine Wilemon and the tireless efforts of staff and volunteers. The impact of the Foundation is now felt by both its grateful patient constituency and the health care providers energized to advance the care of FH in the United States much more rapidly than previously thought possible.
According to the 2013 Consensus Statement published by the European Atherosclerosis Society1, more than 90% (and maybe as high as 99%) of individuals with FH in the US have not been properly diagnosed due to gaps in screening, recognition and classification of FH. Because of Katherine’s tireless efforts through the work of the FH Foundation, including FIND FH, 1.3 million people in the US with FH now have a dramatically improved chance of being diagnosed and receiving appropriate treatment, thereby reducing their risk of cardiovascular disease and death.