Proposed Data Collections Submitted for Public Comment and Recommendations

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Proposed Project: Descriptive Epidemiology of Missed or Delayed Diagnoses for Conditions Detected by Newborn Screening—New—National Center for Environmental Health (NCEH), Centers for Disease Control and Prevention (CDC).

Every state in the United States and Washington, DC, has a public health program to test newborn babies for congenital metabolic and other disorders through laboratory testing of dried blood spots. These programs screen for between 4 and 30 different conditions including phenylketonuria (PKU) and congenital hypothyroidism, with testing performed in both state laboratories and private laboratories contracted by state health departments. The screening process or system is broader than the state public health newborn screening program, which is composed only of the laboratory and follow-up personnel. It involves the collection of blood from a newborn, analysis of the sample in a screening laboratory, follow-up of abnormal results, confirmatory testing and diagnostic work-up. Parents, hospitals, medical providers including primary care providers and specialists, state laboratory and follow-up personnel advocates, as well as other partners such as local health departments, police, child protection workers, and courts play important roles in this process.

Most children born with metabolic disease are identified in a timely manner and within the parameters defined by the newborn screening system of each state. These children are referred for diagnosis and treatment. However, some cases are not detected at all or the detection comes too late to prevent harm. These “missed cases” often result in severe morbidity such as mental retardation or death.

In this project, we will update and expand a previous epidemiological study of missed cases of two disorders published in 1986. We will assess the number of cases of each disorder missed, and the reasons for the missed and legal outcomes, if any. The reasons for the missed will be tabulated according to which step or steps of the screening process it occurred. Data will be collected by asking state public health laboratory directors, newborn screening laboratory managers, follow-up coordinators, specialists at metabolic clinics and parent groups with an interest in newborn screening, for information regarding missed cases. An estimated 269 subjects (with an expected response rate of 80% from metabolic clinics, Lab Directors and Coordinators) will be requested to complete a short questionnaire that asks for information regarding the details of any missed cases of which they are aware.

The survey will highlight procedures and actions taken by states and other participants in newborn screening systems to identify causes of missed cases and to modify policies and procedures to prevent or minimize recurrences. The information gleaned from this study may be used to help craft changes in the screening protocols that will make the process more organized and efficient and less likely to fail an affected child. Furthermore, it is not clear that there is a systematic assessment of missed cases on a population basis; this project will seek to identify procedures for routine surveillance of missed cases. The estimated annualized burden is 36 hours.