Following the enactment of the Newborn Screening  Saves Lives Reauthorization Act of 2014, some of these programs  focused on newborn screening timeliness. Missing data for several states and variations in data  collection limit a full understanding of newborn screening timeliness  trends, but HRSA has been taking steps to address these challenges. Most States that Reported Timeliness Data Had Not Met the Advisory Committee’s Benchmark, but Improved Over Time

Most states that reported 2015 timeliness data (the most recent data  available) to NewSTEPs had not met the advisory committee’s 95 percent  benchmark for newborn screening timeliness for all conditions within 7  days. Missing Data and Variations in Data Collection Limit a Full Understanding of Newborn Screening Timeliness Trends, but HRSA Has Been Addressing These Challenges

Missing data for a number of states limit a full understanding of newborn  screening timeliness trends. According to APHL officials, the data in the  NewSTEPs August 2016 report generally represent with accuracy the  time taken to screen specimens in reporting states, but there are a  number of limitations, including the following examples:
Although the advisory committee’s time-frame goals apply to first  specimens only, some states’ data did not distinguish a lab’s receipt  of a first specimen from receipt of a subsequent specimen, which can  result in the appearance of longer screening times (that is, longer  times from birth to specimen collection and birth to reporting results)  for such states. Clarifying data definitions. NewSTEPs is working with states participating in the  program to help ensure they use these revised definitions consistently  when submitting timeliness data to the data repository. States Identified Numerous Barriers to Timeliness throughout the Newborn Screening Process and Some States Have Developed Strategies to Address Them

Newborn screening officials from 51 states who responded to the  advisory committee’s 2014 survey identified numerous barriers to  timeliness in each of the three stages of the newborn screening process. Newborn screening  officials in the four selected states we interviewed reported developing  strategies to address the barriers. Stage 2: Specimen Collection to Lab Arrival

Newborn screening officials who responded to the 2014 survey identified  a variety of barriers that may delay the arrival of newborn screening  specimens at the state lab, including hospitals and other providers waiting  to send specimens to the lab in batches, insufficient lab operating hours,  and a lack of courier services for transporting specimens. It is too soon to determine which strategies, if any, developed through  HRSA-supported technical assistance have a measurable impact on  improving timeliness in states participating in NewSTEPs 360, and  whether these strategies could be effective in additional states. Agency Comments and Our Evaluation

We provided a draft of this report to HHS for review and comment. We  report that data provided by 38 states for 2012-2015 showed that states  generally had not met the advisory committee’s recommended 2017  benchmark of meeting each time-frame goal for at least 95 percent of  specimens. Appendix I: Scope and Methodology

To examine what is known about the timeliness of newborn screening for  heritable conditions, we reviewed timeliness data from states included in  an August 2016 report from the Newborn Screening Technical assistance  and Evaluation Program (NewSTEPs). NewSTEPs is administered by the  Association of Public Health Laboratories (APHL), in collaboration with  the University of Colorado’s School of Public Health, through a  cooperative agreement with the Health Resources and Services  Administration (HRSA), an agency within the Department of Health and  Human Services (HHS). These annual  timeliness data are based on time-frame goals recommended by HHS’s  Advisory Committee on Heritable Disorders in Newborns and Children in  April 2015 and data definitions developed by a workgroup composed of  newborn screening experts and stakeholders convened by APHL. To examine the barriers identified as contributing to delays in newborn  screening for heritable conditions, and strategies being used to address  them, we reviewed the advisory committee’s 2014 Newborn Screening  Timeliness Survey Report, which included findings from a survey of states  intended to assist with assessing policies and practices related to the  timeliness of newborn screening.
Why GAO Did This Study

Each year, over 12,000 newborns are born with heritable or other conditions that require early detection and treatment. Newborn screening is a state public health activity, and includes the collection of a blood specimen from the newborn, specimen arrival at a state's lab, and results reporting. Barriers at any stage of this process can lead to delays in treatment and potential harm to the newborn. The Newborn Screening Saves Lives Reauthorization Act of 2014 included improving timeliness as an explicit goal for HRSA-supported newborn screening programs, which include technical assistance for and data collection from participating states.
The act included a provision for GAO to review newborn screening timeliness. This report examines (1) what is known about the timeliness of newborn screening for heritable conditions; and (2) barriers identified as contributing to screening delays, and strategies used to address them. GAO reviewed time-frame goals from the advisory committee, an August 2016 report from NewSTEPs with an analysis of annual timeliness data from states for 2012 through 2015 (the most recently available data), and a 2014 report on a survey conducted for the advisory committee. GAO also reviewed relevant documents and interviewed officials from NewSTEPs, two advisory committee members who worked on timeliness issues, and newborn screening officials in four states selected because they were focusing on activities related to newborn screening timeliness.

What GAO Found

Most states that reported timeliness data had not screened newborns within recommended goals to detect conditions that may require treatment. The Department of Health and Human Services' (HHS) Advisory Committee on Heritable Disorders in Newborns and Children recommended time-frame goals in 2015 for newborn screening, such as reporting all results within 7 days of birth. Data provided by 38 states for 2012-2015 showed that states generally had not met the committee's suggested benchmark of meeting each time-frame goal for at least 95 percent of specimens, which the committee encouraged states to achieve by 2017. Missing data and variations in data collection limit a full understanding of timeliness trends, but HHS's Health Resources and Services Administration (HRSA) has supported activities to address these challenges. HRSA supports the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs), which collects newborn screening data. NewSTEPs has been taking steps to improve data for future analysis, such as by clarifying data definitions and working with states to help ensure they use these definitions when submitting timeliness data.
State newborn screening officials identified numerous barriers to timely newborn screening, and a variety of strategies to address them. Newborn screening officials who responded to the advisory committee's 2014 survey identified barriers, such as a lack of understanding of the importance of timely screening for out-of-hospital births, limited courier availability to transport specimens to a lab, and insufficient lab hours. Selected state newborn screening officials interviewed by GAO reported developing various strategies to address these barriers. For example, one state increased courier service so rural hospitals located far from the state's lab could shorten specimen transport time. HRSA has been providing states with technical assistance, but it is too soon to determine which strategies developed through this technical assistance, if any, will have a measurable impact on timeliness.
In commenting on a draft of this report, HHS generally agreed with the report's findings, but questioned the use of 2017 benchmark goals to measure performance and the exclusion of two conditions. GAO believes its use of the 2017 benchmark and scope were appropriate, as discussed in the report.