Biomedical subjects

Lisa Feuchtbaum

Publications and source records attributed to Lisa Feuchtbaum.

3 recordsLinked to original sources

PubMed2006

Tandem mass spectrometry program implementation challenges for state newborn screening programs: national survey of barriers and issues.

OBJECTIVE: A national survey was undertaken to identify the barriers faced by states that have already implemented tandem mass spectrometry (MS/MS) screening and those that have not yet done so. METHODS: In April 2004, a 10-question survey was mailed to 106 individuals identified as key newborn screening contacts in each state. The survey requested information on issues that affected the state's ability to expand newborn screening to include MS/MS technology. RESULTS: Representatives from 51 of 53 states/territories responded to the survey. Of the 51 responding states, 32 (63%) said that they are offering MS/MS screening currently. The top 2 issues that most affected the ability of states to add MS/MS screening were difficulty acquiring support within the organization (66%) and funding limitations (63%). The screening criteria that were most difficult to address were knowledge about the natural history of MS/MS-detectable disorders if untreated (37%), the short-term costs of screening and diagnosis (36%), and the long-term follow-up costs (34%). The top-ranked laboratory issues were the high costs of equipment and supplies (53%) and the development of appropriate population-specific cutoff values (41%). The top-ranked follow-up issues were the availability of accepted protocols and guidelines for MS/MS diagnostic evaluations (59%) and the availability of adequate educational materials describing the disorders (44%). CONCLUSIONS: Several of the issues identified can be addressed through improved, more-comprehensive, patient surveillance systems that track patient health status and health services utilization, although other approaches need to be developed. Through a better understanding of these issues and challenges, the community of professionals who are concerned with the quality and scope of newborn screening may be better able to help states develop strategies to overcome these barriers.

Data Collection↗

PubMed2006

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

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.

California↗

PubMed2006

Economic evaluation of tandem mass spectrometry screening in California.

OBJECTIVE: On the basis of California's experience implementing a pilot tandem mass spectrometry (MS/MS) screening program, an economic evaluation was conducted to determine the economic benefits and costs of a statewide MS/MS screening program. METHODS: Cost-effectiveness, benefit/cost, and cost-utility analyses were conducted with a base-case set of assumptions. The base-case assumptions were varied by using a set of more-favorable and less-favorable assumptions to test the robustness of the analysis findings. RESULTS: The total estimated, annualized, incremental costs of MS/MS screening of 540,000 births in California were nearly $5.7 million; 83 affected newborns would be identified. Screening would reduce the expected lifetime costs of medical care for affected newborns by $7.2 million ($9.0 million in the best-case scenario and $1.8 million in the worst-case scenario). When all program costs and savings were considered, screening saved $1.5 million ($3.4 million saved in the best-case scenario and $3.8 million additional costs in the worst-case scenario). With only incremental program costs, the cost per life saved was $708,000 and the cost per case detected was $68,000. With consideration of the projected lifetime medical care costs, the total cost per case detected was $132,000. MS/MS screening produced a benefit/cost ratio of $9.32 ($11.67 with the best-case set of assumptions and $4.34 with the worst-case set of assumptions). In this analysis, the benefits of screening exceeded total program costs by $47.1 million (the net incremental benefit). In the worst-case scenario, the net incremental benefit of screening was $18.9 million. Screening saved 949 quality-adjusted life-years (QALYs) and saved $1628 per QALY in the base case analysis. Under the worst-case scenario, the cost per QALY was $14,922. CONCLUSIONS: We found that the benefits of MS/MS screening outweighed the costs and that the net benefits were significant and robust in various scenarios with various conservative underlying assumptions.

California↗