A recent study conducted by researchers from **Columbia University** and **Harvard University** has raised important questions about the feasibility of screening children and young adults for genetic variants associated with high cholesterol. This genetic condition, known as **familial hypercholesterolemia (FH)**, affects approximately 1 in every 250 individuals in the United States and can lead to serious cardiovascular issues if not managed early. Despite the potential for early screening to prevent a significant number of premature heart attacks and strokes, the study indicates that current testing methods are prohibitively expensive.
Only about 10% of the estimated **1.5 million Americans** living with FH are aware of their condition. If left untreated, individuals with this genetic variant face an elevated risk of heart attacks or strokes as early as their 30s or 40s. The study, titled “Familial Hypercholesterolemia Screening in Early Childhood and Early Adulthood: A Cost-Effectiveness Study,” was published on **November 9, 2023**, in the journal **JAMA**.
Early Intervention Could Save Lives
The research emphasizes the importance of early detection and management of high cholesterol, even during childhood. According to **Andrew Moran**, associate professor of medicine at Columbia University Vagelos College of Physicians and Surgeons and one of the study’s senior authors, “Early recognition and management of high cholesterol, even in childhood, can prevent or delay heart attacks, strokes, and maybe even dementia later in life.”
The study advocates for a more comprehensive approach to cholesterol screening. It suggests that universal screening programs which focus on intensive monitoring and lifestyle changes for all children with high cholesterol, not just those with known FH genes, could lead to significant cost-effectiveness in the long term. Currently, the **American Academy of Pediatrics** and the **American Heart Association** recommend that all children have their cholesterol levels measured between the ages of 9 and 11, yet fewer than 20% of children actually receive this vital testing.
Cost-Effective Strategies for Screening
Researchers developed a model that assessed multiple scenarios for a two-stage screening strategy. This approach would first measure children’s cholesterol levels (specifically low-density lipoprotein cholesterol, or LDL-C) and then perform genetic testing for FH in those with elevated cholesterol. The study explored the implications of screening children at ages 10 or 18 and examined how these interventions could prevent heart disease over decades.
Despite FH being one of the most common genetic disorders, the study found that the high initial costs of screening a large population to identify a relatively small number of individuals with FH would not be cost-effective compared to standard care options. The findings revealed that if cholesterol screening could lead to more intensive management among all individuals with high cholesterol (defined as LDL ≥130 mg/dL), screening young adults around age 18 would represent the most economically feasible strategy.
Looking ahead, the researchers noted that combining FH screening with existing childhood screening programs—such as newborn screening—may enhance cost-effectiveness. A recent study published in **JAMA Cardiology** showed that pairing cholesterol and genetic screening for FH with blood samples collected during newborn screenings could be viable on a larger scale. The teams from Columbia and Harvard are collaborating with those researchers to find optimal methods for screening newborns or infants for FH.
An additional advantage of conducting genetic tests for FH during childhood is the ability to cascade screening and treatment to family members who might also be undiagnosed carriers of the condition. Moran stressed the need for a more effective early screening strategy, stating, “We haven’t landed on the best way to screen early for FH yet, but with our modeling, we’re leveraging the best evidence and efficient computer modeling methods to arrive at the most promising approaches to test in real clinical trials of screening.”
As the conversation about childhood cholesterol screening evolves, this study provides crucial insights that could shape future preventive healthcare practices, potentially saving lives and reducing the burden of cardiovascular disease.
