A recent study from researchers at Columbia University and Harvard University has raised important questions about the cost-effectiveness of screening children for high cholesterol, specifically focusing on the genetic condition known as familial hypercholesterolemia (FH). With about 1 in every 250 individuals in the United States carrying a genetic variant that leads to dangerously high cholesterol levels from birth, early detection is crucial. If left untreated, individuals with FH face a significantly increased risk of heart attacks or strokes as early as their 30s or 40s. Alarmingly, only around 1 in 10 of those affected by FH, estimated at 1.5 million Americans, are aware of their condition.
The study, titled “Familial Hypercholesterolemia Screening in Early Childhood and Early Adulthood: A Cost-Effectiveness Study,” was published on November 9, 2025, in the journal JAMA. The researchers found that while screening children for FH could prevent a substantial number of premature cardiovascular events, the current costs associated with such screening are prohibitive.
Andrew Moran, associate professor of medicine at Columbia University Vagelos College of Physicians and Surgeons and a senior author of the study, emphasized the importance of early recognition and management of high cholesterol. He noted, “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 screening approach that includes lifestyle changes and monitoring for all children with elevated cholesterol levels, regardless of their genetic risk.
Current guidelines from the American Academy of Pediatrics and the American Heart Association recommend cholesterol screening for all children between the ages of 9 and 11. Despite this, fewer than 20% of children undergo such testing. The study utilized a model to evaluate various two-stage screening strategies, which would first measure children’s low-density lipoprotein cholesterol (LDL-C) levels and then conduct genetic testing for FH in those with high readings.
The findings indicate that while FH is one of the most common genetic disorders, it remains relatively rare in the general population. The high upfront costs associated with screening millions to identify a small number of individuals with FH make such efforts currently non-cost-effective compared to usual care. The researchers concluded that a strategy focusing on intensive cholesterol management for all individuals with elevated cholesterol (LDL ≥130 mg/dL) would be more viable, especially if implemented during young adulthood at around age 18.
Looking towards the future, the study suggests that integrating FH screening into established childhood screening packages, including newborn screening, could enhance cost-effectiveness. Recent research published in JAMA Cardiology has indicated that paired cholesterol and genetic screening for FH using blood spots collected at birth may be feasible on a large scale. The Columbia and Harvard research teams are collaborating with investigators from this study to explore optimal approaches for early screening.
Another significant advantage of conducting genetic testing for FH in childhood is the potential for cascade screening, which allows for the identification and treatment of other family members who may also have undiagnosed FH. This aspect, however, was not accounted for in the current model.
Moran concluded, “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 research progresses, it is hoped that more effective screening methods will emerge, ultimately contributing to better health outcomes for future generations.
