From newborn screening to population health research: implementation of the Michigan BioTrust for health.

In June 2009, the Michigan Department of Community Health launched the Michigan BioTrust for Health to improve preservation and utility of residual dried blood spots from newborn screening (NBS) for biomedical research while maintaining public support and integrity of NBS. In this article, we chronicle implementation of the BioTrust and document its impact on NBS. Overall, the percentage of new parents who consent to possible future research use of their children's dried blood spots through the BioTrust has remained consistent with previous public opinion surveys. No significant increase in refusal of NBS has been observed despite increased publicity. There was, however, a slight increase in requests to destroy samples following completion of NBS, indicating readily accessible opt-out information. Given adequate training and cooperation of birthing hospital staff, as well as outreach education for parents and health-care providers, we conclude it is possible to implement a biobanking initiative without adversely impacting NBS.

Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling.

BACKGROUND: The management options for the autosomal recessive neurodegenerative disorder spinal muscular atrophy (SMA) are evolving; however, their efficacy may require presymptom diagnosis and continuous treatment. To identify presymptomatic SMA patients, we created a DNA-based newborn screening assay to identify the homozygous deletions of the SMN1 (survival of motor neuron 1, telomeric) gene observed in 95%-98% of affected patients. METHODS: We developed primers that amplify a 52-bp PCR product from homologous regions in the SMN1 and SMN2 (survival of motor neuron 2, centromeric) genes that flank a divergent site at site c.840. Post-PCR high-resolution melt profiling assessed the amplification product, and we used a unique means of melt calibration to normalize profiles. Samples that we had previously characterized for the numbers of SMN1 and SMN2 copies established genotypes associated with particular profiles. The system was evaluated with approximately 1000 purified DNA samples, 100 self-created dried blood spots, and >1200 dried blood spots from newborn screening tests. RESULTS: Homozygous deletion of SMN1 exon 7 produced a distinctive melt profile that identified SMA patients. Samples with different numbers of SMN1 and SMN2 copies were resolved by their profiles. All samples with homozygous deletions were unambiguously recognized, and no normal sample was misidentified as a positive. CONCLUSIONS: This assay has characteristics suitable for population-based screening. A reliable screening test will facilitate the identification of an SMA-affected cohort to receive early intervention to maximize the benefit from treatment. A prospective screening trial will allow the efficacy of treatment options to be assessed, which may justify the inclusion of SMA as a target for population screening.

Systematic review of antibiograms: A National Laboratory System approach for improving antimicrobial susceptibility testing practices in Michigan.

OBJECTIVES: Public health surveillance is often dependent on sentinel testing performed in clinical microbiology laboratories, and recognition of emerging/ unusual antimicrobial resistance is especially challenging. We obtained cumulative antibiograms from hospitals to determine whether clinical laboratories recognized unusual resistance or reported antimicrobials inappropriate for various bacterial species, as measured before and after public health laboratory (PHL) educational and technical-support interventions. METHODS: We compared cumulative antibiogram data from 81 clinical laboratories servicing 86 hospitals in Michigan from 2000 through 2005 with a standardized checklist derived from Clinical and Laboratory Standards Institute (CLSI) antimicrobial susceptibility testing (AST) documents. We considered the reporting of unlikely percent-susceptible results and/or inappropriate antimicrobials serious errors, and we calculated error rates for each data year. We used CLSI-recommendation compliance as a measure to determine whether laboratories were implementing changes. RESULTS: Ninety-five of 239 (28%) cumulative antibiograms examined had one or more serious errors. The annual number of cumulative antibiograms with serious errors did not change radically (range: 10-13); however, when expressed as a percentage of cumulative antibiograms received, the occurrence of these errors declined from 59% in 2000 to 19% in 2005. The reporting of misleading or dangerous antimicrobial-organism combinations occurred less frequently than the reporting of unlikely percent-susceptible results. Compliance with new CLSI recommendations did not improve significantly. CONCLUSIONS: AST is complex and nuanced. PHL programs can provide resources, guidance, and technical support to help clinical microbiologists differentiate questionable AST results from true emerging antimicrobial resistance.

A comprehensive Laboratory Services Survey of State Public Health Laboratories.

In November 2004, the Association of Public Health Laboratories (APHL) conducted a Comprehensive Laboratory Services Survey of State Public Health Laboratories (SPHLs) in order to establish the baseline data necessary for Healthy People 2010 Objective 23-13. This objective aims to measure the increase in the proportion of health agencies that provide or assure access to comprehensive laboratory services to support essential public health services. This assessment addressed only SPHLs and served as a baseline to periodically evaluate the level of improvement in the provision of laboratory services over the decade ending 2010. The 2004 survey used selected questions that were identified as key indicators of provision of comprehensive laboratory services. The survey was developed in consultation with the Centers for Disease Control and Prevention National Center for Health Statistics, based on newly developed data sources. Forty-seven states and one territory responded to the survey. The survey was based on the 11 core functions of SPHLs as previously defined by APHL. The range of performance among individual laboratories for the 11 core functions (subobjectives) reflects the challenging issues that have confronted SPHLs in the first half of this decade. APHL is now working on a coordinated effort with other stakeholders to create seamless state and national systems for the provision of laboratory services in support of public health programs. These services are necessary to help face the threats raised by the specter of terrorism, emerging infections, and natural disasters.