California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry

Area of Science:

• Biochemistry
• Genetics
• Public Health

Background:

• A pilot tandem mass spectrometry (MS/MS) screening program was implemented in California from January 2002 to June 2003.
• This initiative was a response to a legislative mandate aimed at expanding newborn screening.
• The program focused on identifying metabolic disorders through advanced diagnostic technology.

Purpose of the Study:

• To outline the implementation strategy of the MS/MS pilot program by the Genetic Disease Branch.
• To evaluate the effectiveness and utility of MS/MS screening in a large newborn population.
• To assess screening test performance, follow-up services, and stakeholder satisfaction.

Main Methods:

• Utilized multiple data collection methods to gather information on program operations and outcomes.
• Described hospital participation, screening uptake, and test performance metrics.
• Assessed follow-up service utilization and satisfaction levels among providers and families.

Main Results:

• Over 50% of California newborns were offered MS/MS screening, with 90% parental consent.
• 51 newborns were identified with MS/MS-detectable disorders, with a prevalence of 1 in 6500 infants (excluding PKU).
• Positive predictive values were high for medium-chain acyl-CoA dehydrogenase deficiency (86.7%) and acceptable for others.

Conclusions:

• The MS/MS screening pilot program effectively identified additional metabolic disorders in newborns.
• The technology demonstrated strong positive predictive value, particularly for medium-chain acyl-CoA dehydrogenase deficiency.
• The program was well-received by patients and providers, indicating its utility and acceptability.