Pediatric Academic Societies 2026 · Boston

When biology is rendered as lifestyle it shapes diagnosis, care, and equity.
Children are listening

Patient and Family Perspectives on Familial Hypercholesterolemia (FH) Screening: How Children Reach Care and the Weight of Risk

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Children
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Family members
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Clinicians
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Total interviews
Explore the findings
<10% diagnosed

Familial hypercholesterolemia affects 1 in 250 people.
Fewer than 1 in 10 are ever diagnosed.

Familial hypercholesterolemia is one of the most common inherited conditions. Variants in the genes that regulate LDL cholesterol cause it to be elevated from birth, years before any dietary or lifestyle exposure. Early identification and treatment with statins in childhood can prevent premature cardiovascular disease.

Guidelines recommend universal cholesterol screening in childhood, but fewer than 40% of pediatricians report implementing it. Cascade testing reaches some families. Newborn screening has been proposed. How to optimize these pathways in the United States is an open and active question.

What has been missing from this conversation is the perspective of the children and families who undergo screening. What do they understand about their diagnosis? What do they take away? This study asked them directly.

Inherited. A child of an affected parent has a 50% chance of carrying the variant.
Treatment in childhood prevents premature heart disease. But screening remains inconsistent and under-implemented.
How families experience screening shapes whether diagnosis leads to understanding or to self-blame.
Figure 1 · Pathways to Care

How children reach familial hypercholesterolemia care

21 children and youth · ages 6–18 · 19 family members · semi-structured interviews · Midwestern academic lipid clinic · September 2024–2025

How children reach care
0%
Targeted screening
Incidental labs · obesity · family history
0%
Universal screening
Routine cholesterol panel
Pediatric lipid clinic
0%
Reported receiving nutritional counseling
0%
Identified screening as related to FH
0%
accessed genetic counseling
Figure 2 · The Weight of Kinship and Numbers

When biology is rendered as lifestyle it shapes diagnosis, care, and equity

1:250
U.S. prevalence — among the most common genetic disorders
<10%
of U.S. FH cases currently diagnosed
LDL-C elevation: genetic from birth
Present from birth: before any dietary or lifestyle exposure
FH is caused by variants in LDLR, APOB, or PCSK9 — not diet, weight, or exercise. LDL-C is elevated from birth, regardless of lifestyle. (CDC Tier 1 Genomic Condition)
— Clinician
VS
— Parent of a young child from a rural community
0%
of parents preferred newborn screening (NBS) over current age 9–11 pathways, citing early identification and family notification
Figure 3 · Study Design and Methods

Study Design and Methods

ELSI-centered mixed methods · IRB #2024-0496 · September 2024–2025 · University of Wisconsin–Madison

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children
ages 6–18
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family
members
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clinicians
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total
interviews

Purposive sample · UW pediatric lipid clinic · Midwestern academic health system · Oversampled: rural, linguistically diverse, and young participants

Children (ages 6–18)▾
Children as active agents in research, not passive subjects
Ages 6–8: play-based, storytelling; unstructured methods (children who would not tolerate formal interview)
Ages 9–13: simplified open-ended questions
Ages 14–18: full semi-structured protocol
Verbal assent required for all; dissent respected — participation immediately withdrawn
Dyadic option: child, caregiver interviewed together
Secure Zoom (v6.2.0) · UW cybersecurity-compliant devices
Professional HIPAA-compliant transcription service (BAA with UW)
Family members (adults)▾
Kinship networks & cascade screening as social & epidemiological phenomenon
Parents and legal guardians
Semi-structured, 60–90 minutes
Verbal consent obtained · unstructured → semi-structured progression
Topics: screening experience, genetic understanding, NBS acceptability, cascade workflows
Emotional impact: guilt, anxiety, relief
Dyadic interviews capture shared family-level decision-making
Clinicians▾
Clinicians mediate institutional logics, patient advocacy & risk
Pediatric cardiologists, lipidologists, general pediatricians, genetic counselors
Certified genetic counselor
Snowball sampling: participants referred peers
System barriers, workflow gaps, newborn screening (NBS) perspectives
Lifestyle narrative and treatment hesitancy
Interdisciplinary collaboration and boundary work

DATA ANALYSIS

Audio-recorded & transcribed
Secure Zoom (v6.2.0) · UW cybersecurity-compliant devices · Recorded with consent · Verbatim transcription by HIPAA-covered professional service · De-identified before analysis
Open coding · Intercoder reliability ≥85%
Two coders independently coded 20% of transcripts · Inductive codebook revised iteratively · Intercoder reliability calculated; re-coded until ≥85% · Memos as audit trail (NVivo 14)
Thematic clustering · Data saturation
Related codes grouped into broader categories · Data saturation: no new themes, adequate depth, social variance · Memo writing throughout (NVivo 14)
Critical-interpretive framework
Themes situated in social, institutional & ethical contexts (Kleinman & Benson 2006; Cohen 1998; Mol 2008) · Reflexivity: interdisciplinary team spanning medical anthropology, genetics & pediatric cardiology (Marcus 1995)
Figure 4 · Listening to Children

Listening to Children: Developmentally Adapted Interviews

Three age-tiered protocols · Children as active participants in research · Dyadic option

Children in this study spoke for themselves. Parents are not proxies for children. Developmentally adapted protocols made space for children as young as six to share their own understanding of screening, health, and family.

Under 8Play-based · Drawing · Storytelling
Probes
“Can you draw what happens at the doctor?”
“Did you ever get a blood test? What was that like?”
“What would you tell your doctor?”
Approx. 20 min · Drawing materials · Aided recall · Child-led pace
8–13Open-ended · Family Tree Mapping
Mapping
“How did you find out about your test results?”
“Does anyone in your family talk about it?”
“If a baby was tested at birth, what would you think?”
30–45 min · Family tree mapping · Dyadic option available
14–17Full Semi-Structured Protocol
Questions
“How do you think about screening for health conditions?”
“Do you tell friends? What shapes that choice?”
“Would you want a baby in your family tested at birth?”
45–90 min · Trauma-informed · Confidentiality explained · Adolescent may request parent be excused

Parents said:

“We eat healthy as a family” · “We have made real changes to protect each other”

Children said:

“I feel like it’s in my family” · “I don’t tell my friends”

IRB #2024-0496 · ELSI ORIGIN-FH · University of Wisconsin–Madison · n=48 semi-structured interviews: 21 children ages 6–18, 19 family members, clinicians · Inductive thematic analysis, NVivo14

Figure 5 · FH Screening in Clinic

FH Screening in Clinic

Three evidence-based actions you can take in your practice · PAS 2026 Boston

■ 1 WHAT YOU CAN SAY
The words clinicians choose construct whether families experience FH as genetic or behavioral
Avoid "high cholesterol"  indexes lifestyle and weight; triggers self-blame in children
Use "gene variant present from birth"  anchors FH in biology before any dietary exposure
Say "not caused by diet"  counters the dominant social frame directly
86% of families attributed FH to lifestyle despite biological etiology · 100% of children internalized diet, exercise, and weight as the primary health response
● 2 WHAT YOU CAN DO
A pathway completes the test: without a cascade there are patients-in-waiting risks
At same visit: document a cascade plan: a referral plan for siblings and related family
Warm specialist referrals (to genetic counseling or lipidology with telehealth when needed)
Add FH to EHR problem list  undocumented problems are difficult to follow up over time
Distinguish FH from "high cholesterol" in documentation  charting may perpetuate lifestyle framing across the care team
◆ 3 ADVOCATE
Individual practice alone is not enough; structural solutions are needed
Support AAP universal lipid screening at ages 9–11 as dept-level policy; move beyond individual discretion
FH on EHR problem list visible to every provider who opens the chart, not buried in labs
Support newborn screening for FH  86% of parents prefer NBS over current age 9–11 pathways, citing early identification and family notification
LANGUAGE REFRAME
✗  Avoid: "high cholesterol" · "fix your diet" · "mention it to relatives" · "watch what you eat"
Tap to see recommended language →
LANGUAGE REFRAME
✓  Use: "gene variant from birth" · "not caused by diet" · "I am placing a cascade referral today" · "this is inherited, not earned"
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