This is a story looking at a study that found familial hypercholesterolemia was more common than previously thought. This condition is associated with an increased risk of heart disease and heart attacks in adults under 40. As a result, researchers are proposing that more kids get screened, and possibly start treatment earlier, to reduce this risk.
One commentator noted: “We really need to pay attention to this” and “It’s reasonable to screen for something that’s common, dangerous and has a treatment that’s effective and safe.” The corollary to this statement is that there is little direct evidence that treating children with medication to lower cholesterol reduces cardiac deaths, and there are plenty of unknowns, such as the costs of screening and labeling very young kids with a disease that may not cause any problems for a long time. The story should have done more to explore both sides of this issue.
Parents want to do everything they can to make sure their children have a long and healthy life, and so a story about a genetic condition being more common than previously thought is likely to be read widely. Unfortunately, the story’s framing takes the stance that finding the risk factors for this disease very early on in life leads to an overall benefit. But the study provides no evidence of that, and parents need to know this.
This was a strong point for the story, which did provide some information on cost. “The study did not address whether screening is cost-effective. In the U.S., cholesterol tests cost around $80 and usually are covered by health insurance, though much lower prices often are negotiated. The study authors in England estimated that if cholesterol testing costs $7 and gene testing costs $300, it would cost $2,900 for every person identified as having the disorder.” We wish the story would have noted the cost of gene testing in the U.S. but otherwise found this satisfactory.
The story also could have noted that although statin drugs are generic and relatively inexpensive, the long-term costs of treatment from childhood onward are likely to be significant.
The story quantified the findings this way: “For every 1,000 people screened in the study, four children and four parents were identified as being at risk for early heart disease. That’s nearly twice as many as most studies in the past have suggested.” That lets us know how many more people might get identified if screening was widened, but readers should also be informed that it isn’t clear if this ultimately reduces cardiac deaths.
The harms of screening including false positives and negatives, overdiagnosis, overtreatment, inappropriate disease labelling and so on are not mentioned.
The story explains how many babies were tested and how they were tested. But, we didn’t get a sense of how reliable these testing methods are, nor what the study’s limitations were.
Instead, the story implied that the study showed that screening kids will lower their risk, with statements like this: “What if a blood test could reveal that your child is at high risk for early heart disease years in the future, giving you a chance to prevent it now?”
The story included numbers on how prevalent this condition is, and the increased risk of heart disease that it carries, though it would have been stronger if it had given specifics on what the baseline risk is versus the 10-fold increase.
The story included independent sources. Also, the story discloses this: “The study was led by Dr. David Wald at Queen Mary University of London. He and another author founded a company that makes a combination pill to prevent heart disease. The work was funded by the Medical Research Council, the British government’s health research agency.”
The alternative here is no screening in early childhood.
Are these sorts of genetic tests available for parents to buy off the shelf, or ask for a referral from a doctor to get? The story doesn’t clarify.
The story establishes the novelty of the study by explaining that it found that this genetic condition is more common than originally thought.
There are two sources who do not appear to be associated with the study.
Systematic, Criteria-Driven
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