Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.

OBJECTIVES: To assess the outcomes of newborn screening for 5 lysosomal storage disorders (LSDs) in the first cohort of infants tested in the state of Illinois. STUDY DESIGN: Tandem mass spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago. RESULTS: The total number of cases with a positive diagnosis and the incidence for each disorder were as follows: Fabry disease, n = 26 (1 in 8454, including the p.A143T variant); Pompe disease, n = 10 (1 in 21 979); Gaucher disease, n = 5 (1 in 43 959); mucopolysaccharidosis (MPS) type 1, n = 1 (1 in 219 793); and Niemann-Pick disease type A/B, n = 2 (1 in 109 897). Twenty-two infants had a positive screen for 1 of the 5 disorders but could not be classified as either affected or unaffected after follow-up testing, including genotyping. Pseudodeficiencies for alpha-L-iduronidase and alpha-glucosidase were detected more often than true deficiencies. CONCLUSIONS: The incidences of Fabry disease and Pompe disease were significantly higher than published estimates, although most cases detected were predicted to be late onset. The incidences of Gaucher disease, MPS I, and Niemann-Pick disease were comparable with previously published estimates. A total of 16 infants could not be positively identified as either affected or unaffected. To validate the true risks and benefits of newborn screening for LSD, long term follow-up in these infants and those detected with later-onset disorders will be essential.

Storage and use of Newborn Screening Blood Specimens for Research: Assessing Public Opinion in Illinois.

Storage and use of residual dried blood spots (DBS) from newborn screening (NBS) for research purposes has been a topic of elevated interest following high profile disputes between genetic privacy advocacy groups and state NBS programs. Our objective was to assess public opinion in Illinois regarding storage and use of residual DBS for research. Five hundred twenty-six Illinois residents completed a survey assessing attitudes about research uses for DBS, storage length, and consent issues. Over 80 % of respondents expressed agreement with questions regarding research uses of DBS. Eighty-three percent of respondents were in favor of storage for at least one year with 44 % favoring indefinite storage. Respondents with higher educational attainment were more likely to support research use of DBS and less likely to desire contact for each future study (P < 0.05). Black respondents were less likely than white respondents to express agreement for the use of DBS for research or to favor long-term storage (P < 0.05). Support was high for storage and use of DBS in our sample. Consent was important and respondents wanted choices about participation. Forty-two percent of respondents were not aware of NBS prior to this survey, highlighting a need for greater education about this public health program. Trust in the public health service of NBS must be protected through transparency in the policy process.

Characterization of beta-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS.

PURPOSE: A population-based cohort from three state newborn screening programs was used to describe beta-globin gene cluster variation. METHODS: Blood spots from newborns homozygous for HbS were genotyped for five restriction fragment length polymorphisms (RFLPs) to construct beta-globin haplotypes. Haplotype distributions were compared by race/ethnicity and sex. Expected heterozygosities were calculated and compared with observed heterozygosities. RESULTS: Haplotype distributions did not differ between sexes for either blacks or Hispanics. Neither racial/ethnic group deviated from Hardy-Weinberg equilibrium; however, Hispanics had higher heterozygosity at two RFLPs compared with blacks. CONCLUSION: The differences between populations probably reflect recent migration and admixture rather than selection.