title: California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry.
abstract: OBJECTIVE
  In response to a California legislative mandate, a pilot tandem mass spectrometry (MS/MS) screening program was undertaken by the Genetic Disease Branch of the California Department of Health Services between January 2002 and June 2003. This article outlines the Genetic Disease Branch approach to implementing the MS/MS pilot program and the program evaluation strategies used.
  
  
  METHODS
  Through the use of multiple data collection methods, we were able to describe hospital participation patterns, screening test uptake, screening test performance, follow-up services utilization, and provider and family satisfaction with the educational materials and follow-up services provided.
  
  
  RESULTS
  During the 18-month pilot program, just more than one half of California's 755,698 newborns were offered MS/MS screening; among this group, 90% of parents chose to have their newborns screened. Fifty-one newborns were identified with MS/MS-detectable disorders, among 461 patients referred for follow-up testing (0.13% of the screened population). One disorder was diagnosed successfully for every 6939 newborns screened and for every 9 infants referred (excluding phenylketonuria). The overall California population prevalence of MS/MS-detectable disorders was 1 case per 6500 infants (excluding phenylketonuria). The positive predictive value for medium-chain acyl-CoA dehydrogenase deficiency was 86.7%, whereas the positive predictive value for short-chain acyl-CoA dehydrogenase deficiency was 21.6%. For a sample from Hawaii, 1 isovaleric aciduria case was detected among 6132 newborns.
  
  
  CONCLUSIONS
  Evaluation of the California MS/MS screening pilot program demonstrated that this technology was effective in identifying additional metabolic disorders. The positive predictive value of screening was particularly good for medium-chain acyl-CoA dehydrogenase deficiency. Overall, patient referral rates were very acceptable. The utility of the program was also demonstrated by positive reviews from patients and providers.
authors.affiliation: Genetic Disease Branch, California Department of Health Services, Richmond, CA 94804, USA. lfeuchtb@dhs.ca.gov
authors.forename: Lisa
authors.initials: L
authors.lastname: Feuchtbaum
authors.forename: Fred
authors.initials: F
authors.lastname: Lorey
authors.forename: Lisa
authors.initials: L
authors.lastname: Faulkner
authors.forename: John
authors.initials: J
authors.lastname: Sherwin
authors.forename: Robert
authors.initials: R
authors.lastname: Currier
authors.forename: Ajit
authors.initials: A
authors.lastname: Bhandal
authors.forename: George
authors.initials: G
authors.lastname: Cunningham
mesh_terms: D002140:California; D006254:Hawaii; D006801:Humans; D007231:Infant, Newborn; D013058:Mass Spectrometry; D015997:Neonatal Screening / Q000379:methods / Q000706:statistics & numerical data; D010342:Patient Acceptance of Health Care; D010865:Pilot Projects; D015397:Program Evaluation