The California Newborn Screening Program: New and Future Program Expansions

The California Newborn Screening Program screens nearly all  babies born in the state for more than 80 serious but treatable genetic disorders. After updating the Health and Safety Code, the California Department of Public Health expanded the newborn screening panel to include all core conditions adopted by the federal Recommended Uniform Screening Panel (RUSP). The California screening panel now includes Adrenoleukodystrophy (ALD), added in 2016, as well as Mucopolysaccharidosis Type 1 (MPS-I) and Glycogen Storage Disease Type II (Pompe disease), to be added by September 2018. These newly added disorders are complicated by variable onset, progression, and severity of signs and symptoms, which are often not clear at diagnosis. However, with early identification in newborns, the diseases can be monitored before complications develop, and treatment can be made available to prevent life-threatening complications. With the growing availability of new screening technologies and new treatment options, more disorders are likely to be added to the California newborn screening panel in the future.