The 131st Annual Meeting (November 15-19, 2003) of APHA

Abstract #62130

Lisa Feuchtbaum, DrPH, Lisa Faulkner, PhD, Maura Hanlon, MPH, CHES, and Oriana Nolan, BS. Genetic Disease Branch, California Department of Health Services, 2151 Berkeley Way, Annex 4, Berkeley, CA 94704, 510-540-3036, lfeuchtb@dhs.ca.gov

The use of tandem mass spectroscopy (MS/MS) has been identified as a potentially promising new technology to screen for 30 additional inherited metabolic disorders than current methods available in California and in most state newborn screening programs. Inherited metabolic disorder symptoms can range from mild retardation to death. In many cases, these outcomes can be avoided with early detection and treatment, decreasing infant morbidity and mortality. In January 2001, the California Newborn Screening Program began offering MS/MS screening to babies born in the State as part of an 18-month pilot project and launched an evaluation phase to comprehensively document the major implementation milestones, technical challenges and successes, and overall utility and efficiency of this new screening technology. Evaluation measures include: maternity hospital uptake and participation; specimen throughput and laboratory accuracy/performance with high-volume screening (250,000 samples in year one of the pilot study); epidemiological incidence and positive predictive values of the screened inherited metabolic disorders by race/ethnicity; health service utilization for both false positive and diagnosed cases; qualitative evaluation of the parent’s informed consent process and parent/provider satisfaction with referral and follow-up services. Results to date include over 250,000 screened babies. Approximately 50% of California hospitals offer MS/MS screening. 90% of women offered the screening choose to have their newborn tested. 385 “unusual results” were referred for follow-up for an overall referral rate of 0.15% over the one-year period. Of these, 34 diagnosed cases have been confirmed. Recommendations from this evaluation will influence State newborn screening policy.

Learning Objectives:

• -Identify barriers to launching a state-wide pilot research study
• -Describe components of effective collaboration between providers and state lab and follow-up facilities
• -Articulate the importance of newborn screening for inherited metabolic disorders to public health.

Keywords: Birth Outcomes, Evaluation

Presenting author's disclosure statement:
I do not have any significant financial interest/arrangement or affiliation with any organization/institution whose products or services are being discussed in this session.