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Newborn screening for lipid disorders
Xiangqiang Shao1, Robert Steiner1, Amy L Peterson2
1Department of Pediatrics, Division of Genetics and Metabolism.
Insights
Newborn screening can now detect lipid disorders like familial hypercholesterolemia. Advances in testing methods, including next-generation sequencing, enable early identification of these conditions for improved public health outcomes.
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- Newborn screening is a highly successful public health initiative.
- Recent interest has grown in expanding newborn screening to include lipid disorders.
- Early detection of lipid disorders has significant implications for affected newborns and their families.
Purpose of the Study:
- To review recent advancements in newborn screening for lipid disorders.
- To highlight the feasibility and potential public health impact of screening for conditions like familial hypercholesterolemia and cerebrotendinous xanthomatosis.
Main Methods:
- Review of recent studies on biomarker measurement from newborn screening dried blood spots.
- Evaluation of current assays for specific lipid disorders.
- Assessment of next-generation sequencing technologies for primary newborn screening.
Main Results:
- Biomarkers for heterozygous familial hypercholesterolemia can be measured from dried blood spots.
- Cerebrotendinous xanthomatosis screening is feasible with existing assays.
- Next-generation sequencing shows promise for identifying a broad range of common and rare lipid disorders.
Conclusions:
- Newborn screening for lipid disorders is becoming increasingly feasible.
- Technological advancements are expanding the scope of detectable lipid disorders.
- Expanded newborn screening for lipid disorders has the potential to improve individual and public health.
Purpose Of Review:
Newborn screening is one of the most successful public health programs of the last century and offers unparalleled access to universal screening for a variety of metabolic and other disorders. Interest in development of newborn screening for lipid disorders has intensified in recent years. Screening newborns for lipid disorders has important implications for the health of the newborn as well as their relatives, and in the case of more common lipid disorders like familial hypercholesterolemia, could have important public health implications.
Recent Findings:
Recent studies have demonstrated feasibility of measuring biomarkers for heterozygous familial hypercholesterolemia from newborn screening dried blood spot specimens. Another lipid disorder, cerebrotendinous xanthomatosis, is currently amenable to newborn screening utilizing currently available assays. New research in next-generation sequencing as a primary screen in newborns will also identify both common and rare lipid disorders in newborns.
Summary:
Historically, newborn screening for lipid disorders was not done for many reasons, but new research has developed testing methods that may successfully identify common and rare lipid disorders. This will impact the health of the newborn but could also impact family members and public health.
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