Newborn Screening Timeliness: Most States Had Not Met Screening Goals, but Some Are Developing Strategies to Address Barriers
Published: 2016-12-15T00:00:00

Fast Facts:
Each year, more than 12,000 newborns are diagnosed with conditions that can cause severe disability or death if not treated quickly. To screen for such conditions, health care providers collect blood samples from newborns and send them to labs for testing.
However, states face barriers to timely screening—such as issues with sending samples to labs—that can delay treatment. Most states had not yet met their goal to screen 95 percent of blood samples within 7 days of birth by 2017, although some have improved screening time. For example, one state expanded courier service so all rural hospitals can get their samples to the lab more quickly.

Highlights:
section_title: Why GAO Did This Study
paragraphs: 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.
section_title: What GAO Found
paragraphs: 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.

section_title: Letter
paragraphs: Each year, more than 12,000 newborns are born with heritable or other  conditions that require early detection and treatment to prevent serious  illness or death. Early detection, diagnosis, and treatment of these  conditions may prevent a child’s death, serious illness, or disability. For  example, newborns with galactosemia cannot properly digest a certain  type of sugar and must avoid milk products to prevent organ damage or  death. Newborns with maple syrup urine disease cannot properly break  down certain proteins that can build up in the blood to toxic levels; if  untreated, these newborns are at risk for brain damage, coma, or death.
Virtually all newborns in the United States (about 4 million each year) are  screened for heritable and other conditions, but barriers experienced in  any stage of the newborn screening process can lead to delays in  reporting results and beginning needed treatment. Newborn screening  involves three stages. First, after birth, a health care provider collects a  blood specimen from the newborn on a card. Next, this specimen is sent  to a state lab for testing. Lastly, the results are reported to the newborn’s  provider. Newborn screening is a state public health activity, with each  state responsible for designing and implementing its own newborn  screening system. As a result, states may experience varying barriers to timely screening—such as problems with timely preparation of specimens  for shipment to the lab—and use different strategies to address such  barriers.
While largely a state public health activity, the federal government has a  role in newborn screening. For example, the Children’s Health Act of  2000 authorized the Department of Health and Human Services (HHS) to  award grants to improve the ability of states to provide newborn screening  for heritable conditions. In addition, Congress created a clearinghouse  for newborn screening information under the Newborn Screening Saves  Lives Act of 2007. Time-frame goals for completing newborn screening  were initially identified in a 2005 report prepared for HHS’s Advisory  Committee on Heritable Disorders in Newborns and Children.  Subsequently, following news reports in late 2013 and an advisory  committee survey of states in early 2014, concerns were raised that many  states were not performing newborn screening in a timely manner. Soon  after, the Newborn Screening Saves Lives Reauthorization Act of 2014  was enacted, incorporating timeliness improvement as an explicit goal for  newborn screening efforts supported by HHS’s Health Resources and  Services Administration (HRSA). These efforts involve newborn  screening education, data collection, technical assistance, and other  activities. For example, HRSA supports the Newborn Screening Technical  assistance and Evaluation Program (NewSTEPs), which involves the  collection of newborn screening data from states on a voluntary basis  through a data repository. In 2015, the advisory committee identified new  time-frame goals and NewSTEPs updated the data repository to allow for  states to submit timeliness data on the new goals.
The Newborn Screening Saves Lives Reauthorization Act of 2014  included a provision for GAO to report on the timeliness of newborn  screening for heritable conditions. In this report, we examine  1.  what is known about the timeliness of newborn screening for heritable  2.  barriers that have been identified as contributing to delays in newborn  screening for heritable conditions, and strategies being used to  address them.
To examine what is known about the timeliness of newborn screening for  heritable conditions, we reviewed state-reported data on newborn  screening, including the percentages of specimens screened within time- frame goals recommended by the advisory committee in 2015, from an  August 2016 report prepared by NewSTEPs, a program administered by  the Association of Public Health Laboratories (APHL) in partnership with  the University of Colorado’s School of Public Health. For its report,  NewSTEPs requested data from all 53 states for 2012 through 2015, and  38 states submitted annual timeliness data that were included in the  report. This included 20 of the states that had signed a memorandum of  understanding (MOU) with APHL to enter data into the data repository  under NewSTEPs and 18 other states that submitted timeliness data  using an equivalent spreadsheet. We also reviewed documents provided  by NewSTEPs, and interviewed officials from APHL and the University of  Colorado’s School of Public Health regarding the data repository,  including methods for entering data into the repository, and regarding the  NewSTEPs August 2016 report.
In addition, we reviewed the advisory committee’s April 2015 letter to the  Secretary of Health and Human Services that included the committee’s  time-frame goals and the benchmark that states should meet each of  these time-frame goals for at least 95 percent of specimens by 2017. We  also interviewed APHL and University of Colorado School of Public  Health officials about any plans to track newborn screening timeliness in  the future. We interviewed newborn screening stakeholders identified by  APHL officials and on HRSA’s website to learn about efforts to track  newborn screening timeliness. These stakeholders included a member of  the advisory committee who co-chaired a timeliness workgroup, a  member of the advisory committee who conducted research related to  newborn screening barriers, and officials from associations (including the  Association of Maternal & Child Health Programs, Association of State  and Territorial Health Officials, Genetic Alliance, and March of Dimes).
We assessed the reliability of the annual timeliness data in the  NewSTEPs August 2016 report by, for example, reviewing whether the 38  states that submitted data used common data definitions and whether  there were mechanisms in place to mitigate data entry errors (such as  automatic calculations of percentages), and determined that they were  sufficiently reliable for our purposes. These timeliness data are not  generalizable to other states, but provided valuable insight on what is  known about newborn screening timeliness in the reporting states.
To examine barriers identified as contributing to delays in newborn  screening for heritable conditions, and strategies being used to address  them, we reviewed documents, including reports and presentations on  newborn screening timeliness. Specifically, we reviewed the advisory  committee’s 2014 Newborn Screening Timeliness Survey Report, which  identified barriers to and strategies for timely newborn screening based  on survey results from newborn screening officials in 51 states. From the  survey report, we selected barriers identified by respondents as having a  major or moderate impact on timeliness; barriers that were frequently  reported by survey respondents in written responses; and barriers in the  survey that were also highlighted by a number of state newborn screening  officials in published presentations and reports. Through a combination of  written responses and interviews, we then collected more detailed  information about these barriers and strategies developed to address  them from officials in four selected states: Arizona, Colorado, Minnesota,  and Wisconsin. We selected these states because they were focusing on  activities related to newborn screening timeliness, which would allow  them to provide more detailed information on a number of barriers and  strategies. The information from these states is not generalizable to other  states, but provided information on strategies used to address identified  barriers.
We reviewed documents provided by APHL officials, including the  NewSTEPs August 2016 report, which contained information on steps  some states had undertaken to improve timeliness. We interviewed  officials from APHL and the University of Colorado’s School of Public  Health to learn about plans to share information from NewSTEPs 360,  which is a program administered by these organizations to provide  technical assistance focused on newborn screening timeliness to states  through grants. We also interviewed these officials to clarify or elaborate  on barriers to timely newborn screening and strategies to address them.  In addition, we reviewed documents from newborn screening  stakeholders and interviewed them to elaborate on information about  barriers to timely newborn screening and strategies to address such  barriers. (See app. I for more information about our scope and  methodology.)
We conducted this performance audit from January 2016 to December  2016 in accordance with generally accepted government auditing  standards. Those standards require that we plan and perform the audit to  obtain sufficient, appropriate evidence to provide a reasonable basis for  our findings and conclusions based on our audit objectives. We believe  that the evidence obtained provides a reasonable basis for our findings  and conclusions based on our audit objectives.
subsections: section_title: Background
subsections: section_title: Newborn Screening Overview
paragraphs: Newborn screening for heritable and other conditions begins with a  provider collecting a blood specimen from a newborn within a few days of  birth. The newborn’s heel is pricked to obtain a few drops of blood,  which are placed and dried on a specimen collection card, and then sent  to a state lab for testing. (See fig. 1 for an example of a collection card.)  State departments of health may use their own lab to test newborn  screening specimens or may contract with a private lab, a lab at a  university medical school, or another state’s lab. After testing, lab staff  notify providers of either normal results or presumptive positive results,  which indicate that a newborn may have a heritable condition, subject to  follow-up testing to determine if the condition is truly present. Lab staff  may report presumptive positive results to providers by, for example, fax  or phone call before sending all normal and presumptive positive  results.
The newborn screening process involves collaboration between providers  and other hospital staff, lab staff, and state newborn screening officials.  Providers and other hospital staff are responsible for ensuring that  newborn screening specimens are collected and sent to the state lab for  testing. Lab staff and follow-up staff, such as nurses and social workers,  are responsible for entering demographic data associated with the  specimen into the state’s laboratory information management system  (LIMS), testing the newborn screening specimen, and reporting results to  providers. Newborn screening officials at state departments of health  support providers and labs with education, data, and resources.
section_title: Advisory Committee’s Time-Frame Goals
paragraphs: HHS’s Advisory Committee on Heritable Disorders in Newborns and  Children, which was chartered to recommend newborn screening  improvements in states and provide technical information and advice  about newborn screening to the Secretary of Health and Human Services,  established a Recommended Uniform Screening Panel (RUSP), which is  a list of conditions for which newborns should be screened. A 2005  report prepared for the advisory committee to make recommendations for  the RUSP also identified time-frame goals for individual stages of the  newborn screening process, such as from specimen collection to arrival  at the lab, for the conditions on the RUSP. Subsequently, in response to  a public comment during a committee meeting in September 2013, the  advisory committee took additional steps to address newborn screening  timeliness concerns:  In 2014, the advisory committee designated 16 of 32 conditions on the  RUSP as “time-critical” conditions. These are conditions for which  acute symptoms or potentially irreversible damage could develop in  the first week of life, and for which early recognition and treatment can  reduce the risk of illness and death.
Also in 2014, the advisory committee, in conjunction with APHL,  conducted a survey and issued its 2014 Newborn Screening  Timeliness Survey Report, which included information on barriers to  and strategies for newborn screening timeliness identified by newborn  screening officials in 51 states.
In April 2015, the advisory committee sent a letter to the Secretary of  Health and Human Services with new time-frame goals. For  example, the 2015 letter included time-frame goals for the full  newborn screening process (from birth to results reporting) rather than  from specimen collection to results reporting. Additionally, the 2015  letter added different time-frame goals for time-critical and non-time- critical conditions, and shortened the time-frame goal for a specimen  arriving at the lab from 3 days after collection to 24 hours after  collection.
The advisory committee’s 2015 time-frame goals included recommended  time frames for completing the full newborn screening process—that is,  from birth to results reporting:
All newborn screening results should be reported for all conditions to  a provider as soon as possible, but no later than 7 days after birth.
Presumptive positive results for time-critical conditions should be  reported immediately to a provider, but no later than 5 days after birth.
Presumptive positive results for all non-time-critical conditions should  be reported to a provider as soon as possible, but no later than 7 days  after birth.
The advisory committee’s 2015 time-frame goals also include time frames  for the first two newborn screening stages (from birth to specimen  collection and from specimen collection to lab arrival) to help states  achieve the goals for the full process; the committee did not identify a  time-frame goal for the third newborn screening stage (lab arrival to  results reporting):  1.  Newborn screening specimens should be collected in the appropriate  time frame for the newborn’s condition, but no more than 48 hours  after birth.  2.  Newborn screening specimens should arrive at the lab as soon as  possible; ideally within 24 hours of collection.
Finally, the advisory committee encouraged states to benchmark  progress by meeting each of these time-frame goals for at least 95  percent of specimens by 2017. (See fig. 2 for more information about the  2015 time-frame goals.)
section_title: HRSA’s Newborn Screening Efforts
paragraphs: HRSA’s Maternal and Child Health Bureau has responsibility for  enhancing, improving, and expanding the ability of states to provide  newborn screening. HRSA oversees a number of programs that provide  resources to improve newborn screening quality and increase newborn  screening education. Following the enactment of the Newborn Screening  Saves Lives Reauthorization Act of 2014, some of these programs  focused on newborn screening timeliness.
One of these programs is NewSTEPs, which is administered by APHL  under a cooperative agreement. NewSTEPs began in 2012 to offer a  forum for collaboration among state newborn screening officials and other  stakeholders; to facilitate continuous quality improvement and data-driven  outcome assessments through a data repository; and to create a national  newborn screening technical assistance center that provides training,  addresses challenges, and supports program improvement through  partnerships with newborn screening stakeholders. In 2013, NewSTEPs  launched its data repository to collect annual newborn screening data  from participating states. To participate in the data repository, states must  sign an MOU with APHL; 35 states had signed an MOU as of November  20, 2016, according to HHS.
In response to requirements in the Newborn Screening Saves Lives  Reauthorization Act of 2014 for HRSA to support timely newborn  screening, NewSTEPs updated the data repository to collect timeliness  data from participating states that are consistent with the advisory  committee’s 2015 time-frame goals. For example, a state’s data in the  repository include the percentage of specimens for which all results for all  conditions were reported within the advisory committee’s goal of 7 days  after birth. NewSTEPs can use each state’s reported percentage for a  given time-frame goal to monitor the state’s progress toward meeting the  advisory committee’s 95 percent benchmark in a given year—that is,  whether screening was completed within a time-frame goal (e.g., 7 days)  for 95 percent of a state’s specimens. Most of the states with signed  MOUs began entering timeliness data into the data repository in mid- 2016.
In addition to incorporating timeliness data in NewSTEPs’ data repository,  HRSA oversees NewSTEPs 360, a program that provides technical  assistance and collects monthly data on newborn screening timeliness  through grants to states. Administered by the University of Colorado’s  School of Public Health, in collaboration with APHL under a cooperative  agreement with HRSA, NewSTEPs 360 aims to improve timeliness in  newborn screening by providing quality improvement training. For  example, according to officials involved in administering the program,  NewSTEPs 360 holds monthly quality improvement coaching calls  intended to help each participating state develop innovative strategies  that focus on timeliness barriers. In addition, participating states enter  monthly timeliness data into the data repository. Twenty-eight states  were participating in this program, as of October 26, 2016.
section_title: Most States Had Not Met the Advisory Committee’s Benchmark for Newborn Screening Timeliness, but Data Challenges Limit a Full Understanding of Timeliness Trends
paragraphs: Most states that reported timeliness data to NewSTEPs had not met the  advisory committee’s 95 percent benchmark for 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.
subsections: section_title: Most States that Reported Timeliness Data Had Not Met the Advisory Committee’s Benchmark, but Improved Over Time
paragraphs: 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. However, timeliness for completing this screening process  improved over time for the majority of states.
subsections: section_title: Timeliness Data for Reporting All Results for All Conditions
paragraphs: Most states reporting 2015 timeliness data to NewSTEPs, which collects  annual newborn screening data from states, had not met the advisory  committee’s 95 percent benchmark for completing the full newborn  screening process (stages 1 through 3) for all conditions within 7 days.  According to the advisory committee’s benchmark, by 2017, states should  report newborn screening results for all conditions within 7 days of birth,  for at least 95 percent of specimens. In 2015, 5 of the 27 states reporting  timeliness data for this measure met this 95 percent benchmark. (See fig.  3.)
States’ timeliness for completing the full newborn screening process for  all conditions improved over time. The number of states meeting the  benchmark was higher in 2015 compared to the previous 3 years.  Likewise, the median percentage of specimens screened within 7 days  was higher in 2015 than in the previous 3 years. (See table 1.) According  to NewSTEPs, there were 21 states that demonstrated improvement from  2012 to 2015.
In 2015, states also had not met the advisory committee’s benchmark for  timely reporting of presumptive positive results for time-critical conditions.  According to this benchmark, by 2017, states should report these results  for 95 percent of specimens within 5 days of birth. In 2015, none of the 16  states that reported on this measure met the 95 percent benchmark. (See  fig. 4.)
The states’ data for reporting presumptive positive results for time-critical  conditions did not indicate consistent improvement over time. The median  percentage of specimens screened for time-critical conditions within 5  days increased from about 23 percent in 2012 to 28 percent in 2014, but  decreased to about 24 percent in 2015. NewSTEPs noted that reporting  results for time-critical conditions within 5 days of birth may be the most  important time-frame goal, and while the data indicate that states had  difficulty meeting this goal in 2015, the data from 2014 indicate that  achieving timely reporting for a high percentage of specimens is possible.  For example, in 2014, two states reported meeting the 95 percent  benchmark for time-critical conditions. (See table 2.) NewSTEPs also  noted that time-frame goals specifically for time-critical conditions were  not in place before April 2015 (when the advisory committee  recommended the current time-frame goals).
For non-time critical conditions in 2015, 2 of 16 states reporting on this  measure had met the benchmark of reporting presumptive positive results  within 7 days of birth for at least 95 percent of specimens. (See fig. 5.)
The states’ data for reporting presumptive positive results for non-time- critical conditions did not indicate consistent improvement over time. The  median percentage of specimens screened for non-time-critical conditions  within 7 days decreased from about 52 percent in 2012 to about 49  percent in 2013, but then increased to about 52 percent in 2014 and  about 55 percent in 2015. (See table 3.)
States that reported timeliness data to APHL generally had not met the  advisory committee’s 95 percent benchmark for stage 1. In 2015, 10 out  of 35 states that reported timeliness data for this stage had 95 percent of  specimens collected within 48 hours of birth—a stage 1 goal. An  additional 5 states did not meet the benchmark, but were close. (See fig.  6.) The median percentage of specimens collected within 48 hours of  birth was about 93 percent, meaning that half of the states reported  having about 93 percent or more of the specimens collected within 48  hours. (See table 4.)
In contrast to stage 1, none of the 34 states that reported stage 2 data for  2015 approached the 95 percent benchmark. (See fig. 7.) The median  percentage of specimens arriving at the lab within 24 hours of collection  was about 7 percent, meaning that half of the states reported having 7  percent or fewer of the specimens arriving at the lab within 24 hours of  collection. (See table 5.) The NewSTEPs August 2016 report noted that  the advisory committee’s 24-hour goal for specimen arrival is ambitious.  NewSTEPs also measured the percentage of specimens each state  reported arriving at that lab within 48 hours of collection and found that  the median percentage of specimens arriving at the lab within that more  generous time-frame goal was higher (about 53 percent).
section_title: Missing Data and Variations in Data Collection Limit a Full Understanding of Newborn Screening Timeliness Trends, but HRSA Has Been Addressing These Challenges
paragraphs: Missing data for a number of states limit a full understanding of newborn  screening timeliness trends. The NewSTEPs August 2016 report included  annual timeliness data for 38 states, but did not include any data for 15  states. According to APHL officials, none of the states expressly  declined to provide data to NewSTEPs for the August 2016 report;  however, some states did not respond to the data request, and some  states’ officials indicated that they were willing to provide data, but could  not do so in time, citing resource constraints. In addition, the 38 states  that provided data did not do so for all time-frame goals or all years (2012  through 2015). APHL officials told us that the lack of data for certain time- frame goals or years was due to factors such as competing priorities or  limitations in states’ information systems, specifically in LIMS. For  example, APHL reported that two states do not electronically capture the  date and time that test results are reported to providers, and newborn  screening officials in those states could not search paper records in time to provide the data. Additionally, a few states had recently changed their  LIMS, which resulted in limited access to data for some years.
Variations in data collection also 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.
Variation exists in how state labs define specimen arrival at the lab,  which can be the time a specimen is delivered by a courier, the time  lab staff record receipt of the specimen in LIMS, or the time lab staff  initiate testing of the specimen. This variation can affect the data  reported for stage 2 (specimen collection to lab arrival).
Many states’ LIMS do not allow lab staff to record separate dates for  when results for time-critical conditions and results for non-time- critical conditions from the same specimen card were reported to  providers, even though time-critical results may be reported earlier.  These systems typically include data entry fields that capture only the  date that all results (presumptive positive and normal) for all  conditions (time-critical and non-time-critical) were reported to  providers, which can result in the appearance of longer newborn  screening times for states with such systems.
With HRSA’s support, NewSTEPs has been taking steps to improve the  completeness and consistency of the annual newborn screening  timeliness data that states submit to the data repository. APHL officials  told us that they expect to have all 53 states sign the MOU and enter data  into the data repository. As participation in the data repository increases  and data definitions are used more consistently across states,  NewSTEPs can more accurately assess timeliness in states across the  country. Steps taken by NewSTEPs include  Increasing participation in the data repository. According to HHS, as  of November 20, 2016, 35 out of 53 states had signed an MOU with  APHL to provide annual data to the data repository for future analysis,  and, therefore, receive data-related technical assistance from  NewSTEPs. APHL officials told us they have been working with the  remaining 18 states to address issues, such as confidentiality  concerns, in an effort to have the MOUs signed. APHL officials say  they have been reaching out to achieve buy-in from the remaining  states through a variety of methods, including sending emails; making  phone calls; conducting in-person meetings; incorporating reminders  in webinars on newborn screening; and engaging with organizations,  such as the American Academy of Pediatrics. APHL officials told us  that while the data in the NewSTEPs August 2016 report provide a  meaningful understanding of timeliness in a large number of states,  they expect this understanding to improve as more states sign MOUs  and submit data to the data repository.
Clarifying data definitions. NewSTEPs has also reviewed the data  definitions used for the data repository to address variability in data  collection and reporting among states. APHL officials said that, as a  result of this review, NewSTEPs revised guidance documents for its  data dictionary to, for example, more clearly separate screening  timeliness data for first specimens from data for subsequent  specimens. 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.
APHL officials told us they plan to publish state-specific reports on the  NewSTEPs website by early 2017 to promote continuous quality  improvement by allowing states and others an opportunity to review  states’ progress toward meeting the advisory committee’s benchmarks.  According to these officials, each state will be able to track its progress on  a specific time-frame goal over time, as well as examine how its  timeliness compares to that of other states.
section_title: States Identified Numerous Barriers Affecting Timeliness, and a Variety of Strategies Have Been Developed to Address Them
paragraphs: State newborn screening officials identified numerous barriers to  timeliness in each of the three stages of the newborn screening process  and developed a variety of strategies to address these barriers. HRSA,  through its cooperative agreement for NewSTEPs 360, has been funding  activities to provide technical assistance to states to address barriers and  improve the timeliness of newborn screening.
subsections: section_title: States Identified Numerous Barriers to Timeliness throughout the Newborn Screening Process and Some States Have Developed Strategies to Address Them
paragraphs: 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.  Examples of barriers include a lack of understanding of the importance of  timely screening among providers performing out-of-hospital births (stage  1), limited courier availability (stage 2), and insufficient lab operating  hours (stage 3). Newborn screening officials in selected states told us  they developed a variety of strategies to address these barriers.
subsections: section_title: Stage 1: Birth to Specimen Collection
paragraphs: Newborn screening officials who responded to the 2014 survey identified  barriers to timely collection of newborn screening specimens. Barriers  included nursing protocols that are not always consistent with advisory  committee time-frame goals, lack of feedback to hospitals on timeliness  performance, and lack of understanding of the importance of timely  screening for out-of-hospital births. (See table 6.) Newborn screening  officials in the four selected states we interviewed reported developing  strategies to address the barriers.
Newborn screening officials from selected states reported that following  nursing protocols that are inconsistent with the advisory committee’s time- frame goals can cause delays. For example, according to newborn  screening officials in one state, nursing protocols often dictate that  specimen collection be performed as late as possible prior to the baby’s  discharge from the hospital. According to these officials, this protocol can  result in late collection of some specimens; for example, among  newborns born via Caesarean-section, who often have longer hospital  stays. To improve the timeliness of specimen collection, this state  recommended that hospitals make nursing protocols consistent with the  advisory committee goal to collect specimens within 24 to 48 hours of  birth, and has developed educational strategies to advise providers to aim  for collection to take place within 24 hours of birth.
A lack of feedback from state newborn screening officials to hospitals was  also identified as a barrier to timely specimen collection, according to  newborn screening officials who responded to the 2014 survey, because  providers may be unaware that they are not meeting timeliness goals.  Officials we interviewed from three states reported developing or  improving methods of providing feedback to hospitals through online  quality reports or report cards. For example, newborn screening officials  in one state we interviewed said they provide feedback to hospitals  through report cards that evaluate hospital performance based on the  advisory committee’s goal for timely specimen collection. The report  cards are disseminated monthly and include an outlier report that alerts  facilities when specific specimens do not meet the timeliness goal.  According to the officials, these outliers showed problems with timeliness  at neonatal intensive care units (NICU). As a result, the state began  reporting NICU timeliness separately on the report cards; subsequently,  newborn screening officials reported that NICU timeliness has improved.
Arizona’s Efforts to Address Barriers to Timely Screening for Out-of-Hospital  Births  Newborn screening officials in Arizona have focused on improving the timeliness of  newborn screening for out-of-hospital births. Generally, according to newborn screening  officials, babies born outside of a hospital—such as in birthing centers (freestanding  facilities separate from hospitals) and home births—have higher rates of delayed  specimen collection. Newborn screening officials in Arizona attributed this to a variety of  causes, including a lack of understanding among providers about the importance of  timely screening, and a lack of standardization of protocols for birthing centers and  home births. For example, for healthy, low-risk deliveries outside of hospitals, midwives  often leave 4 hours after the baby is born and may not follow up during the period when  specimen collection should occur. Since 2011, Arizona has provided education and  basic background training on newborn screening to midwives individually and through  the state’s midwifery association to help address this barrier. Newborn screening  officials explained that following the increased outreach and training, newborn  screening timeliness for out-of-hospital births has improved, but noted that midwives  continue to have problems seeking reimbursement for newborn screening services.
section_title: Stage 2: Specimen Collection to Lab Arrival
paragraphs: 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. (See table 7.)
One barrier to timely completion of stage 2 (collection to lab arrival)  identified by officials responding to the 2014 survey was providers waiting  to send specimens to the lab in batches. To address this practice,  known as batching, officials from selected states reported employing  strategies that involved providing feedback and training to providers at  hospitals. According to newborn screening officials in one state, when  specimens take more than 3 days from birth to arrive at a lab—which  corresponds with the combined time-frame goals for stage 1 and stage  2—hospitals are asked to review those cases and avoid batching in the  future.
Another barrier identified by officials responding to the 2014 survey is that  lab staff are not always available to receive newborn screening  specimens, because the lab’s operating hours do not align with courier  service, mail, or other delivery service times. In three of the selected  states, state officials told us that they addressed this barrier by having lab  staff available on Saturday to receive and test specimens or to ensure  they can be tested first thing Monday morning. Officials in one of these  states also reported developing a process for cases in which a geneticist  believes a baby’s specimen is likely positive for a time-critical condition.  Under this process, the baby’s physician calls the state newborn  screening program, and a courier or a state health official will pick up the  specimen within 2 hours for transport to the lab for immediate testing.
Colorado’s Efforts to Expand Courier Service to Mitigate Geographic Challenges  Newborn screening officials in Colorado told us that they expanded courier service to all  hospitals in 2015 to address barriers to timely arrival of specimens at the state lab after  specimen collection. According to these officials, prior to 2015, rural hospitals facing  geographic challenges, such as long distances to the state lab, relied on mail services  to transport newborn screening specimens to the lab. Beginning in April 2015, the  newborn screening program’s courier service was expanded to all hospitals in the state,  including these rural hospitals. Newborn screening officials explained that courier  service is particularly beneficial for hospitals located long distances from the state lab,  because it can include direct transport from the hospital to a nearby airport, a flight, and  direct transport from the airport to the lab. In addition, courier service was expanded to  have pick-up 6 days per week for all hospitals. This increase in courier service provides  additional opportunities for timely specimen pick up from the hospital for transporting to  the lab. According to Colorado newborn screening officials, these efforts have reduced  specimen transport time for some facilities by up to 3 days.
section_title: Stage 3: Results Reporting
paragraphs: Newborn screening officials who responded to the 2014 survey identified  barriers to timely results reporting, such as insufficient lab operating hours  and labs’ reliance on the mail to communicate results. (See table 8.)
In addition to affecting timely specimen arrival at the lab, a lab’s operating  hours may also affect how quickly staff are available to test specimens  and report results. Officials from one state told us that their strategy to  address this barrier included expanding lab operating hours to 6 days a  week: specimens are processed Monday through Saturday, allowing the  lab to report results for time-critical conditions to providers on Sunday  instead of waiting until Monday.
Additionally, according to some state newborn screening officials we  interviewed, another barrier to timely reporting is that some labs report  results to providers via mail; as a result, providers could wait up to a week  to receive results after they are sent. Newborn screening officials in one  state told us that they updated provider records to include fax numbers  and began faxing newborn screening results to providers. Newborn  screening officials in two other states told us that they are beginning or  planning to report presumptive positive results electronically prior to  sending them by mail; for example, seven hospitals in one of these states  are piloting a program that allows providers to electronically access  results as soon as screening tests are completed at the lab.
Wisconsin’s Efforts to Improve Its Laboratory Information Management System  Newborn screening officials in Wisconsin reported updating their laboratory information  management system (LIMS) to align with newborn screening quality indicators to  provide better feedback on newborn screening timeliness to hospitals, and to allow  electronic messaging between hospitals and labs in the future, increasing record  accuracy and reducing the need for manual entry. State newborn screening officials  told us that to align LIMS with newborn screening quality indicators, they added new  fields to LIMS to accurately measure time taken to complete the stages of the newborn  screening process. For example, they explained that by adding a field in LIMS to record  the time a specimen was received at a lab they can more accurately measure the  amount of time between specimen collection and receipt at the lab. Newborn screening  officials said that with this feedback, hospitals should be able to better identify changes  needed to improve timeliness. Wisconsin also reported updating its LIMS to meet  Health Level 7 standards, known as HL7, which provide a framework for health  information retrieval and exchange from one information system to another (in this case  from hospitals’ information systems to LIMS). Wisconsin newborn screening officials  are working with hospitals to standardize information in their electronic health  information systems so that newborn screening tests can be ordered electronically and  LIMS can automatically retrieve and exchange demographic and other information from  hospital systems, reducing the need for manual entry of information and increasing  accuracy. Finally, Wisconsin officials told us that they are creating a web portal that  allows providers to access the newborn screening results in LIMS for their patients  online in real-time, reducing the amount of time taken to report newborn screening test  results.
section_title: HRSA Has Started Supporting States through Technical Assistance to Help Address Timeliness Barriers
paragraphs: HRSA, through its cooperative agreement for NewSTEPs 360, has  recently focused on improving newborn screening timeliness by funding  activities to provide technical assistance to and information sharing  among states. According to officials involved in administering NewSTEPs  360, since January 2016, they have held telephone calls to provide  coaching to 20 of the 28 states participating in the program; these officials  said they expect to begin coaching calls with the remaining 8 states by  January 2017. The goal of these coaching calls is to help states achieve  the advisory committee’s benchmark of timely reporting of newborn  screening results for 95 percent of newborn screening specimens by  2017. According to newborn screening officials from two states that  participate in NewSTEPs 360, the coaching calls help states prioritize  their efforts to improve newborn screening timeliness and help states hold  themselves accountable for meeting milestones, because they report on  progress made during each monthly call. In addition, these officials said  that participating in NewSTEPs 360 allows them to learn about strategies  developed by other participating states. For example, officials in one state  told us that they formed a small group of officials from states working to  update their LIMS to meet Health Level 7 standards (known as HL7) for  electronic health information exchange. (These standards provide a  framework for health information retrieval and exchange from one  information system to another—in this case from hospital information  systems to LIMS.) According to these officials, participation in this small  group helped them identify milestones to break their project into  manageable pieces. The officials participating in the small group also said  that they compared and shared strategies for meeting both these short- term milestones and their overall goal for updating LIMS.
Officials involved in administering NewSTEPs 360 told us the program  has started taking steps to analyze and share information about barriers  and strategies gathered from states that enter monthly timeliness data,  and receive technical assistance through the program in order to help  identify and promote the use of successful strategies. According to  program officials, these steps include the following examples:
Sharing NewSTEPs’ August 2016 report on newborn screening  timeliness, which contained information on activities that some  NewSTEPs 360 states had undertaken to improve timeliness. The  report included, for example, strategies for improving newborn  screening education for providers.
Sharing information on lessons learned (such as factors that may  predict newborn screening timeliness in hospitals) through an online  video and presenting strategies at the 2016 APHL Newborn  Screening and Genetic Testing Symposium.
Sharing information in messages sent to states through a listserv. For  example, in September 2016, NewSTEPs 360 sent a message  summarizing a new cystic fibrosis newborn screening timeliness  initiative. For this initiative, NewSTEPs 360, in collaboration with the  Cystic Fibrosis Foundation, convened stakeholders to identify  strategies for reporting test results for cystic fibrosis in a more timely  way.
Analyzing monthly timeliness data from states participating in  NewSTEPs 360. According to APHL officials, as of November 16,  2016, 20 of 28 states participating in NewSTEPs 360 had entered  monthly timeliness data into the data repository and the program had  begun analyzing these data to track any progress in these states.  These officials told us they expect that the remaining states will begin  submitting monthly timeliness data by mid-December 2016.
Coding transcripts from the monthly coaching calls for states  participating in NewSTEPs 360 to categorize and track barriers  experienced by states and strategies developed to address them. As  calls are completed over time, officials involved in administering  NewSTEPs 360 believe this will allow them to compare the resulting  data with the monthly timeliness data to measure the impact of  developing a given strategy. These officials told us that they expect to  present results from this analysis to all states (regardless of  participation in NewSTEPs 360) in 2018.
In addition, HRSA also funded targeted technical assistance to help  nurses improve newborn screening timeliness through NewSTEPs 360.  Under a sub-award from NewSTEPs 360, the Genetic Alliance started  providing training to nurses on the importance of timely screening. This  includes, for example, free education on newborn screening specimen  collection through an online training portal. According to an official at  Genetic Alliance, the organization is also involved in identifying barriers  that contribute to newborn screening delays and strategies to address  such barriers. Based on information gathered in focus groups with  nursery and NICU nurses held in June 2016, Genetic Alliance drafted a  number of recommendations for hospitals and nurses to help address  barriers to timely newborn screening. These recommendations include  working with nurses to better integrate updated newborn screening  guidance—such as the advisory committee’s 2015 time-frame goal for  collecting newborn screening specimens—into nurses’ protocols for  newborn screening.
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. The  program began collecting monthly timeliness data from participating  states in January 2016, and not all states have started entering data;  eight states that were selected to participate in NewSTEPs 360 in  October 2016 have not yet started participating in monthly coaching calls.  In addition, Genetic Alliance has not yet issued its recommendations to  hospitals and nurses. According to HRSA officials, the agency will be  conducting annual monitoring of NewSTEPs 360, and a final report that  includes performance measures for NewSTEPs 360 is required to be  completed by late 2018. HRSA officials told us that the report will capture  the extent to which states’ timeliness improved as a result of technical  assistance received through the program.
section_title: Agency Comments and Our Evaluation
paragraphs: We provided a draft of this report to HHS for review and comment. In its  written comments, reproduced in appendix III, HHS generally agreed with  our data-supported findings, but noted two concerns about the  conclusions we have drawn from the findings.
First, the department noted concern with our use of the advisory  committee’s benchmark, which it encouraged states achieve to by 2017,  to assess whether states screened newborns in a timely manner. 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. Our analysis is of the most recent data available, and our  report states clearly that the advisory committee recommended states  achieve these goals by 2017. Time-frame goals for completing newborn  screening were initially identified in 2005, and concerns about the  timeliness of screening date back to at least late 2013. Our analysis  indicates that substantial work remains for the majority of states to  achieve the recommended benchmark by 2017, based on the latest  available information.
HHS also commented that our findings were limited by not including  point-of-care screening within the definition of newborn screening. In the  report, we include information on the 2 conditions—critical congenital  heart disease, and hearing loss—that use point-of-care screening, and  note that these are 2 of the 32 conditions on the RUSP. However, since  these two conditions are not subject to the advisory committee's time- frame goals (which apply to newborn screening using a blood specimen),  and NewSTEPs' August 2016 report did not include data on timeliness for  these two conditions, we did not include them in the timeliness data in our  report or in the description of barriers and strategies.
In addition, HHS provided technical comments, which we incorporated as  appropriate.
We are sending copies of this report to the Secretary of Health and  Human Services, and appropriate congressional committees. In addition,  the report will be available at no charge on GAO’s website at  http://www.gao.gov.
If you or your staff have any questions about this report, please contact  me at (202) 512-7114 or at crossem@gao.gov. Contact points for our  Office of Congressional Relations and Office of Public Affairs can be  found on the last page of this report. Other major contributors to this  report are listed in appendix IV.
section_title: Appendix I: Scope and Methodology
paragraphs: 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). The August 2016 report included data collected  from states through a data repository maintained by APHL under  NewSTEPs.
The data repository includes (but is not limited to) annual timeliness data  collected from states participating in NewSTEPs. 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. For  individual newborn screening stages (e.g., specimen collection to lab  arrival) or the full newborn screening process, the data measure the  percentages of a state’s specimens screened within the advisory  committee’s time-frame goals. For example, the data measure the  percentage of specimens for which all results for all conditions were  reported within the advisory’s committee’s goal of 7 days after birth. For  the August 2016 report, NewSTEPs requested annual timeliness data  from all 53 states, and 38 states submitted data that were included in this  report. (See table 9.) Of the 38 states reporting timeliness data included  in the report, 20 states entered data directly into the data repository and  18 additional states did not have a signed memorandum of understanding  (MOU) and submitted equivalent data using a spreadsheet provided by  NewSTEPs. For all 38 states included in the report, NewSTEPs  determined the percentages of specimens screened within each of the  committee’s 2015 time-frame goals (for the full newborn screening  process or individual stages) in 2012, 2013, 2014, and 2015. The  NewSTEPs report also included the median, quartiles, minimum, and  maximum percentage meeting the 2015 time-frame goal in each year.
We assessed the reliability of the annual data in the NewSTEPs August  2016 report for the purposes of examining what is known about the  timeliness of newborn screening by taking several steps. For example, we  reviewed spreadsheets sent to states without an MOU and confirmed that  the spreadsheets were based on the same definitions as the data  repository (used by states with signed MOUs). We also confirmed that the  spreadsheets had a built-in mechanism to mitigate data entry errors, such  as automatic calculation of percentages. We interviewed officials from  APHL and the University of Colorado’s School of Public Health to confirm  that the data repository also had mechanisms to reduce risks of error. For  example, these officials said the data repository can automatically  calculate percentages and identify obvious data errors, such as values  over 100 percent. These officials also noted that the data combined from  the data repository and spreadsheets were based on common data  definitions and that the data were carefully reviewed and searched for  outliers before being reported. Based on these steps, we determined that  these data were sufficiently reliable for the purposes of our report. The  timeliness data for the states providing data for the NewSTEPs August  2016 report are not generalizable to other states, but provided valuable  insight on what is known about newborn screening timeliness in the  reporting states.
In addition to reviewing the annual timeliness data in the August 2016  report, we reviewed time-frame goals from the advisory committee  included in an April 2015 letter to the Secretary of Health and Human  Services, as well as results from the committee’s 2014 survey, which  analyzed timeliness for specimens screened from January through May  2014. We also reviewed documents obtained from APHL officials that  describe the data repository, quality indicators, and methods for entering  data. We interviewed officials from APHL and the University of Colorado’s  School of Public Health to learn about their activities related to timeliness,  including how they manage the data repository, and to discuss the August  2016 report. We also interviewed these officials to describe any plans to  track newborn screening timeliness in the future. We interviewed newborn  screening stakeholders identified by APHL and on HRSA’s website to  learn about efforts to track newborn screening timeliness. These  stakeholders included a member of the advisory committee who co- chaired a timeliness workgroup, a member of the advisory committee who  conducted research related to newborn screening barriers, and officials  from associations (Association of Maternal & Child Health Programs,  Association of State and Territorial Health Officials, Genetic Alliance, and  March of Dimes). Stakeholders stated that NewSTEPs’ work in tracking  timeliness through the data repository represented the most  comprehensive source of information available for describing what is  known about newborn screening timeliness.
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. The committee, in conjunction with  APHL, fielded the survey in the summer of 2014 to identify barriers to and  strategies for timely newborn screening, among other things. The survey  asked respondents to identify (1) the extent to which certain barriers  (identified by newborn screening experts prior to the survey) impacted the  newborn screening timeliness in their state, and (2) the strategies that  were ongoing in their state to help the newborn screening system meet  the recommendations for timely newborn screening. State officials  indicated whether a number of barriers for each stage of the newborn  screening process identified in the survey had a “major impact,”  “moderate impact,” “minor impact,” or “no impact” on timeliness in their  state. State officials could also include in written responses additional  barriers impacting timeliness not previously identified. The advisory  committee obtained survey responses from newborn screening officials in  51 states, although not all states responded to all questions.
We selected certain barriers for which we collected more detailed  information from states. To select these barriers, we reviewed state  responses in the advisory committee’s 2014 survey report, published  presentations from APHL’s 2016 Newborn Screening and Genetic Testing  Symposium, and a 2015 report by the Association of State and Territorial  Health Officials. We selected the barriers most frequently indicated by  survey respondents as having a major or moderate impact on timeliness,  as well as additional barriers that were frequently reported in the survey’s  written responses, which were grouped into categories in the survey  report. We also selected barriers from the survey report that fewer  respondents indicated as having a major or moderate impact on timeliness, but which were highlighted by a number of state newborn  screening officials in published presentations and reports. We combined  barriers that were similar into broader topics. For example, for stage 1, we  included barriers related to staff training and turnover into one topic  related to staffing issues.
We interviewed officials from four selected states to collect more detailed  information on the barriers we selected from the survey report. These  selected states were Arizona, Colorado, Minnesota, and Wisconsin. We  selected these states because, according to our review of documents  from APHL and the Association of State and Territorial Health Officials,  they were focusing on activities related to newborn screening timeliness,  which would allow them to provide in depth information on barriers and  strategies. In addition, these four states’ activities related to a range of  barriers and strategies. For example, one state focused on improving  timeliness for out-of-hospital births, while another state focused on  improving its laboratory information management system to provide better  feedback to hospitals. Through a combination of written responses and  interviews, officials from these states provided more detailed information  on how the identified barriers may have contributed to delays in their  states, and described strategies they had developed or planned to  develop to address these barriers. The results of our review of states are  not generalizable to other states, but provided insights on these issues.
In addition to collecting information from states on barriers and strategies  for timely newborn screening, we reviewed documents from APHL and  the University of Colorado’s School of Public Health involved in  NewSTEPs and NewSTEPs 360, including NewSTEPs’ August 2016  report (which contained information on activities that some states had  undertaken to improve timeliness) and interviewed these officials to clarify  or elaborate on information about barriers to timely newborn screening  and strategies to address such barriers. Similarly we also reviewed  information and interviewed newborn screening stakeholders identified by  APHL officials and on HRSA’s website to elaborate on barriers and  strategies. These stakeholders included a member of the advisory  committee who co-chaired a timeliness workgroup, a member of the  advisory committee who conducted research related to newborn  screening barriers, and officials from associations involved in efforts to  improve newborn screening (such as the Association of State and  Territorial Health Officials and Genetic Alliance).
section_title: Appendix II: Heritable and Other Conditions on the Recommended Uniform Screening Panel (RUSP) as of March 2015
subsections: section_title: Frequency
paragraphs: Inability to process the amino acid leucine, leading to low blood sugar and accumulations  of several organic acids, especially after illness or missed meals. Untreated, can lead to  brain damage, mental retardation, coma, and death.  Treatment includes a diet low in protein and fat, and high in carbohydrates.
Buildup of argininosuccinic acid and ultimately ammonia, leading to brain swelling, coma,  and sometimes death.  Treatment consists of a low-protein diet, frequent meals, medications to prevent ammonia  buildup, nutritional supplements, and sometimes a liver transplant.
Periodic episodes of acid buildup, often triggered by illness, which can lead to coma, brain  damage, and death.  Intravenous treatment to regulate blood sugar and blood acid levels can permit normal  development.
Buildup of citrulline and ultimately ammonia, which untreated can lead to seizures, coma,  brain damage, and death.  Treatment with low-protein diet, medications to prevent ammonia buildup, and nutritional  supplements to allow normal development.
Lack of the liver enzyme needed to convert galactose, a major sugar in milk, into glucose  (blood sugar). Galactose then accumulates in and damages vital organs, leading to  blindness, severe mental retardation, infection, and death. Milk and other dairy products  must be eliminated from the baby’s diet for life. This greatly improves the outlook for  affected infants, but risk of mild developmental delays remains.
A group of inherited disorders resulting from deficiencies of hormones produced by the  adrenal gland. Severe forms of CAH, if undetected and untreated, cause life-threatening  salt loss via urine.  Treatment includes hormone replacement.
Inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxyl- lysine, and tryptophan, which are building blocks of protein. Often unrecognized for up to  18 months until childhood illness triggers onset of symptoms. Without early diagnosis and  prompt treatment when needed, can lead to brain damage, low muscle tone, cerebral  palsy-like symptoms, and death.
A condition in which the body is unable to break down proteins and carbohydrates. People  with this condition have trouble using biotin, a vitamin that helps turn certain  carbohydrates and proteins into energy for the body. It can lead to a harmful buildup of  organic acids and toxins in the body.  Early detection and treatment with biotin supplements can prevent the severe outcomes of  MCD.
Inability to process the amino acid leucine. Can cause coma, brain damage, or death in  infancy, or emerge later in childhood after infectious illness.  Early diagnosis and treatment with low-protein diet and nutritional supplements allow most  children to develop normally.
Description   Inability to convert certain fats to energy. Symptoms such as feeding difficulties, low blood  sugar, and lack of energy can begin soon after birth, and people with this condition may  experience heart problems, difficulty breathing, liver failure, and sudden death.  Treatment includes a high-carbohydrate, low-fat diet, nutritional supplements, and  frequent meals.   <1 in 100,000  Genetic metabolic disorder with mild to severe symptoms, which can lead to mental  retardation or death.  Treatment consists of a special diet, continued indefinitely.
Seemingly well infants suddenly develop seizures due to low blood sugar. People with this  condition are at risk of seizures, breathing difficulties, liver problems, brain damage, coma,  and sudden death.  Treatment includes nutritional supplements and frequent meals.
Defect in processing four amino acids, resulting in illness in first week of life. Severity  varies, but death during first month and lifelong brain damage are common.  Treatment includes low-protein diet, vitamin B12 injections, and nutritional supplements.
Defect in the processing of four amino acids leading to illness in newborns including brain  damage, coma, and death.  Even with treatment, which includes a low-protein diet and nutritional supplements, some  children have development delays, seizures, increased muscle tone, frequent infections,  and heart problems.
Seemingly healthy infants can die of what appears to be sudden infant death syndrome.  Other infants may develop low muscle tone, seizures, heart failure, and coma, often  following illness.  Treatment based on frequent meals, a low-fat diet, and nutritional supplements.
Inability to convert certain fats to energy. Unless treated, infants often develop heart and  liver failure, dying before age one.  Treatment includes a high-carbohydrate, low-fat diet, nutritional supplements, frequent  meals, and limiting exercise.
Defect in processing the amino acid leucine, leading to brain damage, seizures, liver  failure, and infant death, or sometimes no symptoms until adulthood. Symptoms may  develop after childhood illness.  Treatment includes a low-protein diet.
An inherited disorder resulting in lack of the enzyme that recycles the vitamin biotin. May  cause frequent infections, uncoordinated movement, hearing loss, seizures, and mental  retardation. Undiagnosed and untreated, can lead to coma and death.  If condition is detected soon after birth, problems can be prevented with oral high-dose  biotin.   <1 in 100,000  Cells cannot readily absorb carnitine, needed to transfer fatty acids into mitochondria  (which supply cells with energy). Results include low blood sugar and sudden death in  infancy. Older children may present with progressive heart failure.  High-dose carnitine permits normal development.
Description   Inability to process the essential amino acid phenylalanine, which accumulates and  damages the brain. Can lead to severe mental retardation unless detected soon after  birth.  Treatment includes a special formula and a low-protein diet, continued indefinitely.
A group of seven heart defects. Babies born with CCHD are at significant risk of disability  or death if not diagnosed soon after birth.
A common inherited disorder, resulting in lung and digestive problems, and death by age  35, on average. Early diagnosis and treatment may improve the growth of babies and  children with CF.
Babies with Pompe disease have trouble breaking down a large sugar called glycogen.  Too much glycogen can keep certain organs and tissues, like the heart and muscles, from  working properly. Treatment includes enzyme replacement therapy, physical therapy, and  respiratory therapy.
Sickle cell disease is an inherited disease of red blood cells. Individuals with sickle cell  disease have abnormal hemoglobin, the protein inside red blood cells that carries oxygen  to every part of the body. Hb S/BTh is a form of sickle cell anemia, in which the child  inherits one sickle cell gene and one gene for beta thalassemia, another inherited anemia.  Symptoms are milder than for Hb SS, though severity varies. Routine treatment with  penicillin may not be recommended for all affected children   Sickle cell disease is an inherited disease of red blood cells. Individuals with sickle cell  disease have abnormal hemoglobin, the protein inside red blood cells that carries oxygen  to every part of the body. Hb S/C is another form of sickle cell disease, in which the child  inherits one sickle cell gene and one gene for another abnormal type of hemoglobin. Hb  S/C tends to be milder than Hb SS; therefore, treatment with penicillin may not be  recommended.
Without early testing, most babies with hearing loss are not diagnosed until age two or  three. By then, they often have delayed speech and language development. Early  diagnosis allows use of hearing aids by six months, helping prevent serious speech and  language problems.
Lack of an enzyme that converts the amino acid homocysteine into cystathionine, needed  for normal brain development. Untreated, leads to mental retardation, eye problems,  skeletal abnormalities, and stroke.  Treatment consists of a special diet, one or more vitamins (B6 or B12), and other  supplements.
Inherited vitamin metabolism defect. Can lead to buildup of acids in blood, brain damage,  seizures, paralysis, coma, and death.  Treatment includes B12 injections and a low-protein diet.
Thyroid hormone deficiency that severely retards growth and brain development.  Treatment includes thyroid hormone replacement therapy with dietary restrictions.
A group of rare inherited disorders characterized by defects in two critical immune system  cells that are normally mobilized by the body to combat infections. SCID has also been  referred to in the popular media as the “bubble boy disease.” Without treatment, infants  with SCID are more susceptible to and can develop recurrent infections, leading to failure  to thrive and often death.
Sickle cell disease is an inherited disease of red blood cells. Individuals with sickle cell  disease have abnormal hemoglobin, the protein inside red blood cells that carries oxygen  to every part of the body.
Description   Lack of an enzyme that causes the byproducts of the amino acid tyrosine, particularly a  very toxic compound (succinylacetone), to build up in the liver. Fatal liver and kidney  failure may result.  Treatment includes dietary restrictions and medication to help protect the brain, liver, and  kidneys.
In 2014, the advisory committee identified 16 of 32 conditions as “time-critical” conditions. These are  conditions in which acute symptoms or potentially irreversible damage could develop in the first week  of life, and for which early recognition and treatment can reduce the risk of illness and death.
section_title: Appendix III: Comments from the Department of Health & Human Services
section_title: Appendix IV: GAO Contact and Staff Acknowledgments
subsections: section_title: GAO Contact
section_title: Staff Acknowledgements
paragraphs: In addition to the contact named above, Kim Yamane (Assistant Director),  Hernan Bozzolo (Analyst-in-Charge), Emily Binek, Jazzmin Cooper, Drew  Long, Vikki L. Porter, and Jennifer Whitworth made key contributions to  this report.