The purpose of this study was to describe private insurance reimbursements for newborn hearing screening (NBHS) in the United States. Data from the MarketScan® Commercial Databases were used to estimate itemized reimbursements for privately insured infants born between January 1, 2013-December 31, 2014. Estimates were based on billed claims for hearing screening services during infancy among 456,407 infants with birth hospitalization claims (71,820 infants with inpatient NBHS and 1,104 infants with outpatient NBHS). The median reimbursement for NBHS was almost three times greater when performed in an inpatient setting than outpatient setting. Median reimbursement for NBHS performed in a hospital and billed as inpatient service was $148.00 (interquartile range [IQR] $99.52-$210.00) and $57.53 (IQR $34.40-$120.91) when billed as an outpatient service. The mean reimbursement for NBHS performed in an outpatient hospital setting was $136.48 (IQR $86.08-$220.15) and $41.60 (IQR $28.15-$57.52) for NBHS billed in conjunction with an office visit (e.g., performed in an audiology clinic, an audiologist's office, or physician's office during a routine check-up). No NBHS claims were filed for 84.3% of infants (384,587‬/456,407), as NBHS is generally included as a covered service bundled along with delivery and newborn care.

INTRODUCTION: Data on muscular dystrophies (MDs), a heterogeneous group of heritable diseases hallmarked by progressive muscle deterioration, are scarce. OBJECTIVE: We describe cross-sectional sociodemographic and clinical characteristics of individuals with congenital, distal, Emery-Dreifuss, facioscapulohumeral, limb-girdle, myotonic, or oculopharyngeal MD. METHODS: The study was conducted in four sites (Arizona, Colorado, Iowa, and 12 western New York counties) as a pilot expansion of the Muscular Dystrophy Surveillance, Tracking and Research Network, funded by the Centers for Disease Control and Prevention. MDs were detected in healthcare facilities and administrative data sources using International Classification of Disease codes. Our sample contains 1,723 individuals with a MD diagnosis and a healthcare encounter between January 1, 2007 and December 31, 2011. RESULTS AND CONCLUSIONS: Individuals were mostly non-Hispanic and white. Median ages ranged from 9.2 to 66.0 years. Most (98%) had health insurance. The proportion of individuals who were disabled or unable to work increased with age (range: 8.6-46.4%). People with limb-girdle MD aged ≥18 years were more likely to be nonambulatory (range: 24.5-44.7%). The percentages of individuals with documented clinical interventions during the surveillance period were low. The most common cause of death was respiratory causes (46.3-57.1%); an ICD-10 code for MD (G71.1 or G71.0) was reported for nearly one-half. Our findings show wide variability in sociodemographic and clinical characteristics across MDs.

Using national data, we examined emergency department (ED) encounters during 2006-2011 for which a diagnosis code for fragile X syndrome (FXS) was present (n = 7,217). Almost half of ED visits coded for FXS resulted in hospitalization, which is much higher than for ED visits not coded for FXS. ED visits among females coded for FXS were slightly more likely to result in hospitalization. These findings underscore the importance of surveillance systems that could accurately identify individuals with FXS, track healthcare utilization and co-occurring conditions, and monitor quality of care in order to improve care and reduce FXS-associated morbidity.

OBJECTIVES: Published cost estimates for cystic fibrosis (CF) are based on older data and do not reflect increased use of specialty drugs in recent years. We assessed recent trends in healthcare expenditures for CF patients in the United States (US) with employer-sponsored health insurance. METHODS: The study is a retrospective analysis of claims data for privately insured individuals aged 0-64 years who were continuously enrolled in non-capitated plans for at least 1 calendar year during 2010-2016. Mean annual expenditures during a calendar year were calculated for individuals who met a claims-based CF case definition. Average annual growth rates were calculated through linear regression of the natural logarithm of annual expenditures. RESULTS: The annual CF prevalence was 1.1-1.4 per 10 000 adults and 2.9-3.0 per 10 000 children. Average spending adjusted for inflation nearly doubled from roughly $67 000 per patient in 2010 and 2011 to approximately $131 000 per patient in 2016. Inflation-adjusted spending on outpatient and inpatient care increased by 0.5% and 2.5% per year, respectively, whereas pharmaceutical spending increased by 20.2% per year. Virtually all of the growth in pharmaceutical spending was accounted for by spending on specialty drugs; inflation-adjusted spending on other medications increased by 1.3% per year. The annual growth rate in pharmaceutical spending rose by 33.1% during 2014-2016, the years during which lumacaftor/ivacaftor was introduced. CONCLUSIONS: Per-patient expenditures for privately-insured patients with CF almost doubled during 2010-2016; specialty drugs were largely responsible for this increase, with a major contribution from new, genotype-targeted CFTR modulator medications.