Evidence map›Paper›PMID 42479637›Full record

ReviewPublic health genomics2026

Opportunities and Challenges in Translating Genomics into Population Health Impact: Lessons from Familial Hypercholesterolemia.

Jeffery Osei, Sai Sripad Kodukula, Baffour Otchere, Om Raval, Webster Donaldy, Abhilash Suresh, Shoshana H Bardach, Jennifer Farnell, Ann Dodge, Diane MacDougall and 5 more

Abstract readReview
In one paragraph

Review in Public health genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Jeffery OseiDepartment of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA, jeffery.osei@emory.edu.
Sai Sripad KodukulaDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Baffour OtcherePiedmont Athens Regional Medical Center, Athens, Georgia, USA.
Om RavalEmory University, Atlanta, Georgia, USA.
Webster DonaldyDepartment of Medicine, Harlem Hospital Center, New York, New York, USA.
Abhilash SureshDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Shoshana H BardachFamily Heart Foundation, Fernandina Beach, Florida, USA.
Jennifer FarnellFamily Heart Foundation, Fernandina Beach, Florida, USA.
Ann DodgeFamily Heart Foundation, Fernandina Beach, Florida, USA.
Diane MacDougallFamily Heart Foundation, Fernandina Beach, Florida, USA.
Katherine WilemonFamily Heart Foundation, Fernandina Beach, Florida, USA.
Alexander C RazaviDivision of Cardiology, Emory University School of Medicine, Atlanta, Georgia, USA.
Yan V SunDepartment of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA.
Muin J KhouryDepartment of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA.
Laurence S SperlingFamily Heart Foundation, Fernandina Beach, Florida, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFamilial hypercholesterolemia (FH) is a common, autosomal dominant genetic disorder characterized by lifelong elevations in low-density lipoprotein cholesterol and a markedly increased risk of premature atherosclerotic cardiovascular disease. Despite a well-defined genetic architecture, highly effective therapies, and strong evidence demonstrating the benefits of early identification and treatment, FH has historically remained underdiagnosed and undertreated worldwide. This persistent gap highlights broader challenges in translating genomic discovery into measurable population health impact. SUMMARY: In this review, we examine how initiatives led by the Centers for Disease Control and Prevention, the Family Heart Foundation, and other stakeholders have advanced awareness, case identification, surveillance, evidence-based care, and implementation of genomic medicine in cardiovascular disease prevention. Using the framework of the Essential Public Health Services - assessment, policy development, and assurance/implementation - we evaluate progress achieved, identify implementation barriers, and highlight opportunities and recommendations to strengthen the population-level impact of FH detection, treatment, and prevention efforts. KEY MESSAGES: The FH experience provides valuable lessons for other genomic conditions, demonstrating that achieving public health benefit requires more than scientific discovery. Greater investment in implementation science, a continued focus on health equity, and sustained systems-level engagement will be essential to translate genomic knowledge into durable and scalable improvements in population health.

Indexed as

GenomicsHyperlipoproteinemia Type IIPopulation HealthTranslational Research, BiomedicalCardiovascular DiseasesHumansPublic HealthUnited StatesCardiovascular disease preventionFamilial hypercholesterolemiaImplementation translation genomic medicinePopulation healthPublic health genomics

Identifiers

PMID42479637
PMCPMC13498316

What Socratic holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.