Genetic Diagnosis of Familial Hypercholesterolemia in Residual Newborn Dried Blood Spots
This cross-sectional study found that screening newborns for FH using first-tier biochemical testing with reflex second-tier genetic testing was feasible and, in this population, identified 1 in 625 newborns with FH. Further refinement and validation are needed before implementation in newborn screening. Routine newborn screening for FH would substantially increase diagnosis of this common, potentially fatal, yet readily treatable condition while providing opportunities for cascade screening.
Authors
- Amy L. Peterson (ORCID: https://orcid.org/0000-0002-5238-3002)
- Xiangqiang Shao (ORCID: https://orcid.org/0000-0002-8789-2333)
- Robert D. Steiner (ORCID: https://orcid.org/0000-0003-4177-4590)
- Patrice K. Held (ORCID: https://orcid.org/0000-0003-4472-7861)
- Michael Lasarev (ORCID: https://orcid.org/0000-0002-1896-2705)
- Steve E. Humphries (ORCID: https://orcid.org/0000-0002-8221-6547)
- Jolynn Tumolo
- Megan Benoy (ORCID: https://orcid.org/0000-0002-3336-8982)
- Xiao Zhang (ORCID: https://orcid.org/0000-0002-8362-7997)
- Vanessa L. Horner
Institutions
- Oregon Health Authority (US)
- University of Wisconsin–Madison (US)
- Oregon Health & Science University (US)
- UW Health University Hospital (US)
- Marshfield Clinic (US)
- Wisconsin Division of Public Health (US)
- University College London (GB)
Publication Details
- Journal
- JAMA Cardiology
- Published
- 2025-10-29
- DOI
- https://doi.org/10.1001/jamacardio.2025.4047
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00