Most parents bring a child to a cardiologist because something has already gone wrong with the child. Amy Peterson, MD, MS, professor in the Division of Cardiology, sees a more complicated version. Sometimes the child is fine — healthy, active, without a symptom. The reason they are in her pediatric cardiology clinic is that a parent is not. A father dies of a heart attack in his 40s. In the weeks afterward, someone thinks to ask whether his children inherited what he carried. Then a healthy 9-year-old is tested for a condition no one had thought to look for until it killed someone they loved. It happens regularly, Peterson said: “Nobody should have to find out that way.”
The condition is familial hypercholesterolemia, or FH. It’s an inherited disorder that keeps low-density lipoprotein, the “bad” cholesterol, at dangerous levels from birth. Among genetic disorders, it is more common than most: a 2020 meta-analysis in the American Heart Association’s journal, Circulation, examining studies that included more than 7 million people, determined its prevalence to be roughly one in 300 worldwide. The incidence is about the same in children as in adults. It is treatable, often with an inexpensive daily statin. And it is findable in childhood with a simple blood draw, years or decades before it does its damage.
The difficulty is finding the children. According to that same Circulation analysis, only about 1% of people with FH worldwide have ever been diagnosed. “A treatment can’t reach a patient whom no one can find,” said Krisjon Olson, PhD, an assistant professor in the Division of Cardiology and a medical anthropologist whose work focuses on how care reaches — or fails to reach — the people who need it. Her instinct is to widen the net rather than narrow it: screen broadly and meet families where they already are.
That premise came under challenge this year. The Journal of the American Medical Association, JAMA, published a cost-effectiveness analysis (Jan. 2026, Vol. 335, No.2) concluding that universal pediatric LDL-C screening paired with genetic testing for FH did not clear the conventional bar of $100,000 per quality-adjusted life-year at the 3% discount rate now used in health economics in the U.S. An accompanying editorial in the same issue went further, suggesting pediatricians could reasonably decline to screen. Arriving with the authority of a modeling study in a leading journal, that conclusion threatened to lend quantitative cover to the idea that finding these children and their relatives is not worth the cost.
Peterson, Olson, and Jessica Cao, PhD, associate professor and health economist and health services researcher in the Department of Population Health Sciences, wrote to the journal in reply; their letter was published in JAMA’s April 21 issue. Their objections were pointed. A 3% discount rate steeply down-weights benefits that arrive decades later — exactly the shape of a childhood intervention meant to prevent a midlife heart attack. That standard discounting, they wrote, “does a major disservice to children.” The model counted only direct medical costs, leaving out the productivity lost when adults die during their working years. The editorial’s alternative — selective screening based on family history — has been shown to miss many affected children, likely worsening existing disparities in who gets diagnosed. A parallel letter from cardiologists at Texas Children’s Hospital and the University of Colorado sharpened one technical point: the genetic testing that drove much of the modeled expense — roughly $500 of a $722 maximum per child — is not part of the screening guideline at all, since treatment is keyed to cholesterol level, not to a gene. Peterson put the objection plainly: “Reading one line, saying it’s not cost-effective to screen, and then concluding therefore that we shouldn’t screen is a massive oversimplification of the issue.”
In the same issue, the study’s authors replied, and it was there that the discussion turned. Asked to respond, they ran a new analysis: if every child found with an LDL-C of 190 mg/dL or higher were simply treated, without genetic testing, screening at age 18 came out cost-effective. Remove the genetic test — the very requirement Peterson’s group argued against — and the arithmetic flips. That difference is not an academic argument. Genetic testing misses real cases: only about 70% of children who meet the clinical definition of FH carry a detectable variant, according to a 2018 expert panel in the Journal of the American College of Cardiology. That means that roughly three in 10 would be passed over by a gene-first approach, yet they would be identified by one based on cholesterol levels. In effect, the authors’ own re-run conceded the letter-writers’ central point.
This raises a question worth seriously considering: why is this still an argument? FH is among the best-characterized inherited conditions in medicine. It is common, its cardiovascular risk is well documented, statins carry decades of safety data in children, and the CDC lists FH among its “Tier 1” genomic conditions: that is, those with enough evidence to act on. Yet the guidelines remain split. The National Heart, Lung, and Blood Institute and the American Academy of Pediatrics recommend universal screening at ages 9 to 11 and again at 17 to 21; the U.S. Preventive Services Task Force has repeatedly concluded — most recently in 2023 — that the evidence is insufficient to weigh the benefits and harms. The split shows up in exam rooms. In an earlier UW study co-authored by Peterson, it was shown that even a concerted push, such as clinician education and prompts built into the medical record, left fewer than half of eligible children actually screened. For Olson, that gap is a separate issue from the one the study litigates: “The fact that screening doesn’t happen very often,” she explained, “is a different problem than current forms of screening not being cost-effective.”
For Peterson and Olson, the point is not a verdict on any single model. It is that a question that has been so extensively studied continues to be reopened in ways that could keep findable children unfound. Their prescription is unglamorous: fold a lipid panel into the blood draws already routinely performed on children for lead or anemia testing, screen at the visits families already attend — a “no wrong door” approach, in Olson’s phrase. Another approach is adding FH to newborn screening, when newborn bloodspots are tested for about 50 conditions that are disabling and/or life threatening. Peterson’s group showed that it is possible to diagnose FH from leftover newborn dried bloodspots.
The exchange in JAMA itself, they suggest, is a small example of something that should happen more often in medicine — a published critique met by a reply willing to give ground. In a literature where letters to the editor are easy to overlook, this one sparked and moved the argument.