Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri.

OBJECTIVE: To evaluate the performance of a statewide full-population pilot study in Missouri on newborn blood spots for screening of lysosomal storage disorders (LSDs) using digital microfluidics. STUDY DESIGN: A full-population pilot study using a multiplexed fluorometric enzymatic assay to detect Pompe disease, Fabry disease, Gaucher disease, and mucopolysaccharidosis type I (MPS I) in the Missouri newborn population is ongoing. Provisional cutoff values were determined during a prepilot study. All newborn dried blood spots received at the Missouri State Public Health Laboratory for routine newborn screening were screened for the 4 LSDs during the pilot study. Newborns determined to be screen-positive were referred for confirmatory testing. RESULTS: The study commenced on January 11, 2013; during the first 6 months, 43,701 specimens were screened, and 27 newborns with a confirmed diagnosis of an LSD genotype (8 with Pompe disease, 1 with Gaucher disease, 15 with Fabry disease, and 3 with MPS I) were identified. These numbers correspond to detection rates of 1:5463 for Pompe disease, 1:43,701 for Gaucher disease, 1:2913 for Fabry disease, and 1:14,567 for MPS I. The positive predictive values were 47% for Pompe disease with 1 lost to follow-up, 10% for Gaucher disease, 58% for Fabry disease with 2 lost to follow-up, and 11% for MPS I with 4 pending. CONCLUSION: The first 6 months of the Missouri LSD pilot study provided the opportunity to validate the effectiveness of the digital microfluidic screening method, refine the cutoffs for detection of these LSDs, and test the entire system of infant referral, follow-up, confirmation, treatment, and screening program communication.

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-lessons learned.

To determine how US newborn dried bloodspot screening (NDBS) programs obtain patient-level data on clinical genetic counseling services offered to families of newborns identified through newborn NDBS and the extent to which newborns and their families receive these services. These data should serve to inform programs and lead to improved NDBS follow-up services. Collaborations were established with three state NDBS programs that reported systematically tracking genetic counseling services to newborns and their families identified through NDBS. A study protocol and data abstraction form were developed and IRB approvals obtained. Data from three state NDBS programs on a total of 151 patients indicated that genetic services are documented systematically only by metabolic clinics, most often by genetic counselors. Data from 69 endocrinology patients indicated infrequent referrals for genetic services; as expected higher for congenital adrenal hyperplasia than congenital hypothyroidism. Endocrinology patients were often counseled by physicians. While systematic tracking of genetic counseling services may be desirable for quality assurance of NDBS follow-up services, current systems do not appear conducive to this practice. Clinical records are not typically shared with NDBS programs and tracking of follow-up clinical genetic services has not been generally defined as a NDBS program responsibility. Rather, tracking of clinical services, while recognized as useful data, has been viewed by NDBS programs as a research project. The associated IRB requirements for patient-related research may pose an additional challenge. National guidance for NDBS programs that define quality genetic service indicators and monitoring responsibilities are needed. US experiences in this regard may provide information that can assist developing programs in avoiding tracking issues.

Overweight among low-income preschool children associated with the consumption of sweet drinks: Missouri, 1999-2002.

OBJECTIVE: To examine the association between sweet drink consumption and overweight among preschool children. METHODS: A retrospective cohort design was used to examine the association between sweet drink consumption and overweight at follow-up among 10904 children who were aged 2 and 3 years and had height, weight, and Harvard Service Food Frequency Questionnaire data collected between January 1999 and December 2001 and height and weight data collected 1 year later. Sweet drinks included vitamin C-containing juices, other juices, fruit drinks, and sodas as listed on the Harvard Service Food Frequency Questionnaire. Logistic regression was used to adjust for age; gender; race/ethnicity; birth weight; and intake of high-fat foods, sweet foods, and total calories. Results were stratified by baseline BMI. RESULTS: Among children who were normal or underweight at baseline (BMI <85th percentile), the association between sweet drink consumption and development of overweight was positive but not statistically significant. Children who were at risk for overweight at baseline (BMI 85th-<95th percentile) and consumed 1 to <2 drinks/day, 2 to <3 drinks/day, and > or =3 drinks/day were, respectively, 2.0 (95% confidence interval [CI]: 1.3-3.2), 2.0 (95% CI: 1.2-3.2), and 1.8 (95% CI: 1.1-2.8) times as likely to become overweight as the referent (<1 drink/day). Children who were overweight at baseline (BMI > or =95th percentile) and consumed 1 to <2 drinks/day, 2 to <3 drinks/day, and > or =3 drinks/day were, respectively, 2.1, 2.2, and 1.8 times as likely to remain overweight as the referent. CONCLUSIONS: Reducing sweet drink consumption might be 1 strategy to manage the weight of preschool children. Additional studies are needed to understand the mechanism by which such consumption contributes to overweight.