Newborn Screening: Gaucher Disease—Newborn Screening Panel Nomination

Wisconsin health care providers can nominate a condition to add to the Wisconsin newborn screening panel. The panel is part of the Wisconsin Newborn Screening program.

The purpose of this page is to show providers the nomination process for Gaucher disease.

What is Gaucher disease?

Gaucher Disease is a rare inherited progressive multisystemic disorder that when untreated typically results in significant morbidity and in some cases even early death. This genetic condition follows an autosomal recessive inheritance pattern, in which biallelic pathogenic variants in the GBA1 gene result in deficiency of the enzyme glucocerebrosidase. Gaucher Disease (GD) is a heterogeneous disease that is classified as non-neuronopathic type 1 (GD1) and neuronopathic types 2 and 3 (GD2, GD3). Clinical heterogeneity and progressive onset of symptoms lead to misdiagnosis and substantial diagnostic delays for many patients. Symptoms of GD1 can range from mild and moderate to life-threatening. Nearly half of patients with GD1 are diagnosed in childhood, with a significant percentage diagnosed before age 10.

GD primarily affects the liver, spleen, lung, bone marrow, and skeleton. Children with severe GD1 may presenting with massive hepatosplenomegaly, growth failure, and bleeding episodes. GD2 and GD3 demonstrate neurologic involvement along with the systemic complications. Enzyme replacement therapy (ERT), which is approved by the US Food and Drug Administration (FDA) for symptomatic adults and children with GD1, has been shown to normalize hemoglobin and platelet counts, reduce organomegaly, minimize irreversible complications like bone deformities, and reduce risk of avascular necrosis.

Nomination process for Gaucher disease

The following timeline outlines the newborn screening panel nomination process:

• August 21, 2025: The Wisconsin Newborn Screening program received a nomination (PDF) to add Gaucher Disease to the newborn screening panel.
• October 17, 2025: The Wisconsin Newborn Screening Metabolic Subcommittee had a meeting where it considered the nomination. The subcommittee recommended adding Gaucher Disease to the Wisconsin newborn screening panel and forwarded this suggestion to the Wisconsin Newborn Screening Umbrella Committee.
• December 5, 2025: The Wisconsin Newborn Screening Umbrella Committee agreed with the recommendation to add Gaucher Disease to the Newborn Screening Panel of conditions. They forwarded the recommendation to the Secretary’s Advisory Committee on Newborn Screening.
• March 6, 2026: The Secretary’s Advisory Committee on Newborn Screening considered the nomination and forwarded a report (PDF) to the Wisconsin Department of Health Services (DHS) Secretary in support of adding Gaucher Disease to the Newborn Screening Panel of conditions.
• April 23, 2026: The Secretary approved the recommendation (PDF) to add Gaucher Disease to the Newborn Screening Panel.

Learn more about Administrative rulemaking at DHS and the Wisconsin legislature. If you have questions about the nomination process, contact the Newborn Screening Program at DHSNewbornScreening@dhs.wisconsin.gov.