Standing in the Way of Pediatric Screening

Since 2011 the American Academy of Pediatrics (AAP) and the National Institutes of Health (NIH) have recommended screening children at the age of 2 if they have a family history of premature vascular disease or familial hypercholesterolemia (FH).

In both 2006 and 2016 members of the US Preventive Services Task Force (USPSTF) – none of whom are lipid experts – announced they were going to review the evidence for and against recommending routine lipid screening in children and adolescents. In both cases, they deemed there was “insufficient evidence” to recommend for or against such screening. The 2016 verdict was published in the Journal of the American Medical Association (JAMA) and comes a full 5 years after the AAP and the NIH recommended this same screening. This insufficient, or “I” rating, created confusion. As a result, many clinicians who care for children decided not to routinely screen. At present only between 2-22% of children are screened.

After the 2016 “I” rating, the Family Heart Foundation responded by inviting the lead author and then Chair of the USPSTF, Dr. Kristen Bibbins-Domingo, to speak at our annual Global Summit. We thought it would be good for her to hear the perspective of those living with FH, many that have suffered because of late diagnosis. She would also hear from clinicians and scientists who care for people with FH and study its consequences. Dr. Bibbins-Domingo gave her speech which was understandably, not well received. She apparently was not persuaded by any conversations she had while attending the Summit.

In May of 2021, the USPSTF announced the methods they would use to re-assess the evidence for and against screening. They invited members of the public to comment on their methods and ask questions by June 9, 2021.

The Family Heart Foundation painstakingly reviewed everything on the USPSTF’s website and drafted an 8-page letter recommending additional evidence to review, the importance of considering the evidence related to the very early atherosclerotic cardiovascular disease (ASCVD) in children with homozygous familial hypercholesterolemia (HoFH), and the value of clinical trials that have been done in settings outside of primary care provider’s offices for example screening done in school settings and through lipid specialists. The Family Heart Foundation and 28 physicians (all lipid experts) all signed the letter and felt hopeful. We were sure the members of the USPSTF (again, none of whom are lipid specialists) would read our very well-reasoned argument and would finally reverse course and recommend universal screening in childhood.

Boy, were we wrong! In early 2023 the USPSTF issued their draft recommendation statement. We were shocked to find that despite the wealth of evidence we had provided, the USPSTF’s position hadn’t changed. They refused to accept any evidence other than results from randomized clinical trials, so they continued to claim there was insufficient evidence to recommend for or against universal lipid screening in children and adolescents.

What does this mean? By requiring randomized clinical trials as the only acceptable evidence, the USPSTF is asking for a trial that would take a group of children with FH and give half of them lipid-lowering therapy for 20-30 years and the other half a placebo (a pill containing no medication). Then, at the end of those 20-30 years, they would count the number of heart attacks and strokes in both groups. If the children who got cholesterol-lowering medicine had fewer heart attacks and strokes than those who received the placebo, the USPSTF would have the evidence they wanted. Only then would they recommend screening and treatment in childhood.

That type of study would be, nearly impossible to do, and, more importantly, it would be unethical. There is not a lipid specialist in this country who would sign on to do such a study when the Food and Drug Administration has specifically approved cholesterol-lowering medications for children with FH for years!

In February of 2023, the Family Heart Foundation requested an in-person meeting. We were denied. The USPSTF does not meet with any organizations or individuals with differing opinions. We decided to draft still another letter hoping to have them understand the value of other types of evidence. You can read the full letter here.

We sent this final letter – signed by 10 national organizations including the American College of Cardiology, the American Heart Association, the National Lipid Association as well as 65 clinicians and scientists (all lipid experts) and 116 members of our Family Heart community. Many of these individuals have been negatively impacted by the failure to screen and diagnose early.

Shockingly, (or really, at this point, not so shockingly) this made no difference to the USPSTF. Once again in July of 2023, they doubled down on their recommendation that there is insufficient evidence to recommend for or against lipid screening, which was published in JAMA. 

In response, we wrote two letters to the editor of JAMA. In our first letter, we focus on the fact that the USPSTF stated, without justification or clarification, that HoFH, the most serious form of FH was “outside the scope of this review.” We pointed out that if HoFH had been included, there would be sufficient evidence to recommend universal lipid screening in childhood. We cited published data from the CASCADE FHÒ Registry documenting the harm caused by late diagnosis of HoFH. One registry participant with genetically confirmed HoFH was not diagnosed until age 37, at the time of a serious heart attack. If universal screening was the norm in the US, this person would have been diagnosed decades earlier.

Our second letter focused on diversity, equity, and inclusion. The USPSTF’s preamble to the recommendation statement focuses on its “commitment to mitigating health inequities that prevent people from fully benefiting from preventive services.”

We pointed out that thanks to the Children’s Health Insurance Program (CHIP) and/or Medicaid over 95% of our nation’s children are insured. Adults, on the other hand, are almost 3 times more likely to be uninsured than children. But insurance access isn’t equal across race and ethnic groups. Certain adults, Hispanics (27.6%), and Black individuals (13.3%) are much more likely than white individuals (7.4%) and Asians (7.1%) to not have health insurance. Since uninsured Hispanic and Black adults are significantly less likely to have access to routine lipid screening than white individuals or Asians, to achieve equity in the US health system, it makes sense to screen for lipid disorders in childhood when more than 95% of children are insured.

Pediatric screening is crucial for early diagnosis and treatment of this potentially deadly but completely treatable genetic condition. A driving force in our research, advocacy, and programming is the commitment to early diagnosis and treatment of genetic dyslipidemias.

In 2024 and 2025, the Family Heart Foundation will be laser-focused on the implementation of the NIH/AAP guidelines that call for targeted screening at age 2 in families with early ASCVD or FH and universal pediatric lipid screening between the ages of 9-11. 

We will not wait for the USPSTF to agree because we know the evidence is clear. The costs of delaying diagnosis are heartbreaking for families. We look forward to working with each of you on this important advocacy agenda.