A recent study led by researchers at Columbia University and Harvard University has raised important questions regarding the screening of children for high cholesterol genes, particularly those associated with a genetic condition known as familial hypercholesterolemia (FH). The study, published on November 9, 2023, in the journal JAMA, highlights that one in every 250 individuals carries a genetic variant that can result in dangerously high cholesterol levels from birth, significantly increasing the risk of heart attacks and strokes at a young age.
Despite the severity of FH, approximately 1.5 million Americans are unaware they have this condition. The study indicates that while early screening for high cholesterol and FH genes could prevent many premature heart attacks and strokes, the current costs associated with such testing make it impractical for widespread implementation.
Cost-Effectiveness of Screening Strategies
The researchers employed a modeling study to evaluate various scenarios involving a two-stage screening process. This process would first assess children’s cholesterol levels and then conduct genetic testing for FH among those with elevated cholesterol readings. The analysis focused on screening children at ages 10 and 18, examining how these early interventions could potentially avert heart disease later in life.
According to Andrew Moran, associate professor of medicine at Columbia University, “Early recognition and management of high cholesterol, even in childhood, can prevent or delay heart attacks, strokes, and maybe even dementia later in life.” However, the study found that due to the high initial costs of screening millions of children to identify a relatively small number of individuals with FH, none of the cholesterol plus genetic screening strategies proved cost-effective compared to standard care.
The model suggested that screening young adults around age 18 would be the most cost-effective strategy if it led to more rigorous management of cholesterol levels among all those identified with high cholesterol, regardless of their genetic status.
Future Directions in Screening
Looking ahead, the potential for cost-effective FH screening may improve if it is incorporated into existing childhood screening programs, such as newborn screening. A prior study in JAMA Cardiology demonstrated that paired cholesterol and genetic screening could be feasible when using blood samples collected for newborn screening.
The teams at Columbia and Harvard are collaborating with these researchers to explore optimal methods for screening newborns or infants for FH. An additional benefit of identifying high cholesterol early in childhood is the possibility of cascading the screening process to family members who might also carry the condition, an aspect not currently addressed by the existing model.
Moran emphasized, “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 discussion around early cholesterol screening continues, the goal remains clear: to find a practical and cost-effective approach that could lead to better health outcomes for children and their families.
