DISCOVER FH Collaboration With Family Heart Foundation, UT Southwestern, and Partners

LIPID inCode tests patients to identify familial hypercholesterolemia and prevent cardiovascular disease

OXFORD, ENGLAND / ACCESSWIRE / September 20, 2024 / GENinCode Plc (AIM:GENI), the genetics company focused on the prevention of cardiovascular disease and ovarian cancer, announces its collaboration with The Family Heart Foundation®, UT Southwestern, and other partner members to use the LIPID inCode® monogenic and polygenic test in US Primary and Secondary Care settings for the diagnosis of familial hypercholesterolemia ("FH") with further information available to physicians for polygenic hypercholesterolemia (high levels of cholesterol) and coronary heart disease risk.

Supported by a US Department of Defense grant, the DISCOVER FH¹ mission is to "Research to improve early diagnosis of familial hypercholesterolemia (FH) through family screening and the implementation of diagnostic tools, including in the pediatric population." LIPID inCode® is the diagnostic tool used for identification of patients with FH and cascade screening. Cascade screening is the process of screening family members once a person is diagnosed with FH in order to identify others who may be affected. This approach can identify both adults and children early in life, allowing earlier treatment with cholesterol-lowering therapies and reductions in the risk of heart disease.

Individuals tested in the program will be identified from two US healthcare systems, UT Southwestern Medical Center and the Veteran Affairs (VA) North Texas Health Care system. After an individual is genetically confirmed to have FH, the Family Heart Foundation will directly contact at-risk family members to educate them about their risk for FH, the significance, and coordinate genetic testing.

"Collaborating with GENinCode and partners to implement FH testing brings us one step closer to broader and more accessible cascade screening at a national level, helping to save future generations from cardiovascular disease," said Katherine Wilemon, Founder and CEO of Family Heart Foundation. "Cascade screening is a powerful, proven method to improve early diagnosis of FH and reduce preventable heart attacks and strokes. Together, we are poised to make this life-saving screening more accessible, ultimately safeguarding the health of future generations and reducing the burden of cardiovascular disease."

Professor Zahid Ahmed, Program Lead for DISCOVER FH commented: "We are delighted to work with GENinCode and implement LIPID inCode® for the diagnosis and treatment familial hypercholesterolemia. The added benefit of easy sample collection, improved test turnaround times at a reduced cost will help us deliver the Lipid inCode test in our practice, and we welcome this approach to help us deliver this first phase of the plan to reduce the onset of cardiovascular disease."

FH is an inherited condition, affecting about 1 in every 250 individuals globally. If a person has FH, there is a 50% chance that their children, siblings, and parents also carry the familial variant. People with FH have extremely high low-density lipoprotein-cholesterol (LDL-C, aka "bad cholesterol") from birth which dramatically increases their risk of atherosclerotic cardiovascular disease (ASCVD) at a young age. ASCVD is cardiovascular disease as a result of cholesterol deposits in the arteries and includes heart attack, angina, the need for stents and bypass surgery, stroke, peripheral artery disease, and even sudden cardiac death. Fortunately, treatment with cholesterol-lowering drugs can significantly reduce this risk.

Unfortunately, less than 30% of people with FH in the US have been identified, despite the efforts of the Centers for Disease Control and Prevention (CDC) to prioritize FH for early detection, cascade screening, and proactive treatment with cholesterol-lowering drugs. Furthermore, people with FH and their families have recognized the missed opportunities when families are not screened for FH. The standard of care for cascade screening in the US relies on healthcare providers educating FH patients on the importance of family screening with no ability to ensure this screening happens. The Family Heart Foundation is uniquely positioned to serve as a centralized coordinating office to assist and support families in need regardless of geographic location.

Establishing an effective cascade screening strategy in the US is urgent. Without it, up to 1 million individuals with FH may remain undiagnosed and untreated, putting them at heightened risk for heart attacks, surgical interventions, and premature death. These outcomes not only devastate families, but also impose significant costs on the healthcare system and society, particularly as heart disease linked to FH often affects younger individuals.

In the UK around 7.6m people live with heart and circulatory disease, which causes 25% of all deaths annually. Cardiovascular disease (CVD) can be reduced by identifying and treating individuals at risk, and the UK National Health Service 10 Year Plan (2019) sets out to address CVD prevention, including identifying individuals with familial hypercholesterolemia.

Matthew Walls, CEO of GENinCode PLC said: "The collaboration with the Family Heart Foundation continues to expand the use of LIPID inCode testing to identify patients at high risk of heart disease representing the largest cause of death globally. We are now extending implementation of LIPID inCode to other US institutions for the roll-out and adoption of our leading polygenic test. We look forward to supporting the Family Heart Foundation in reaching its long-term goal to diagnose patients with familial hypercholesterolemia and provide earlier risk assessment of CVD to improve health outcomes."

1. Direct Screening Of Relatives to Reveal FH (DISCOVER FH)

Contact Information

Matthew Walls
CEO
mwalls@genincode.com
00447887501998

SOURCE: GENinCode Plc

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