NEWBORN 

SCREENING 

TIMELINESS

Most States Had Not 

Met Screening Goals, 

but Some Are 

Developing Strategies 

to Address Barriers

Report to Congressional Committees

December 2016

GAO-17-196

United States Government Accountability Office
United States Government Accountability Office

Highlights of GAO-17-196, a report to 

congressional committees

December 2016

NEWBORN SCREENING TIMELINESS

Most States Had Not Met Screening Goals, but Some 

Are Developing Strategies to Address Barriers 

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.

Advisory Committee’s Newborn Screening Time-Frame Goals and Barriers Identified by States

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. 

View GAO-17-196. For more information, 

contact Marcia Crosse at (202) 512-7114 or 

crossem@gao.gov

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.
Page i GAO-17-196 Newborn Screening Timeliness

Letter 1

Background 5

Most States Had Not Met the Advisory Committee’s Benchmark 

for Newborn Screening Timeliness, but Data Challenges Limit a 

Full Understanding of Timeliness Trends 13

States Identified Numerous Barriers Affecting Timeliness, and a 

Variety of Strategies Have Been Developed to Address Them 26

Agency Comments and Our Evaluation 34

Appendix I Scope and Methodology 36

Appendix II Heritable and Other Conditions on the Recommended Uniform 

Screening Panel (RUSP) as of March 2015 42

Appendix III Comments from the Department of Health & Human Services 46

Appendix IV GAO Contact and Staff Acknowledgments 48

Tables

Table 1: Number of States Meeting the 2017 Benchmark for 

Reporting All Newborn Screening Results for All 

Conditions within 7 Days of Birth, by Year (2012-2015) 15

Table 2: Number of States Meeting the 2017 Benchmark for 

Reporting Presumptive Positive Results for Time-Critical 

Conditions within 5 Days of Birth, by Year (2012-2015) 17

Table 3: Number of States Meeting the 2017 Benchmark for 

Reporting Presumptive Positive Results for Non-TimeCritical Conditions within 7 Days of Birth, by Year (2012-

2015) 19

Table 4: Number of States Meeting the 2017 Benchmark for 

Collecting Newborn Screening Specimens within 48 

Hours of Birth, by Year (2012-2015) 21

Table 5: Number of States Meeting the 2017 Benchmark for 

Arrival of Newborn Screening Specimen at Lab within 24 

Hours of Collection, by Year (2012-2015) 23

Contents
Page ii GAO-17-196 Newborn Screening Timeliness

Table 6: Selected Barriers and Examples of Strategies for Timely 

Newborn Screening from Birth to Specimen Collection 26

Table 7: Selected Barriers and Examples of Strategies for Timely 

Newborn Screening from Specimen Collection to Lab 

Arrival 28

Table 8: Selected Barriers and Examples of Strategies for Timely 

Newborn Screening from Lab Arrival to Results Reporting 30

Table 9: States Represented in the Newborn Screening Technical 

Assistance and Evaluation Program (NewSTEPs) August 

2016 Report on Newborn Screening Timeliness 37

Figures

Figure 1: Example of a Blood Specimen Card Used for Newborn 

Screening 7

Figure 2: Activities Included in the Newborn Screening Process 

and Related Time-Frame Goals Set by the Advisory 

Committee on Heritable Disorders for Newborns and 

Children in 2015 10

Figure 3: States’ Percentages of Specimens for Which Results 

Were Reported to Providers within 7 Days of Birth, 2015 

(All Newborn Screening Results for All Conditions) 14

Figure 4: States’ Percentages of Specimens for Which Results 

Were Reported to Providers within 5 Days of Birth, 2015 

(Presumptive Positive Results for Time-Critical 

Conditions) 16

Figure 5: States’ Percentages of Specimens for Which Results 

Were Reported to Providers within 7 Days of Birth, 2015 

(Presumptive Positive Results for Non-Time-Critical 

Conditions) 18

Figure 6: States’ Percentages of Newborn Screening Specimens 

Collected within 48 Hours of Birth, 2015 20

Figure 7: States’ Percentages of Newborn Screening Specimens 

Arriving at the Lab within 24 Hours of Collection, 2015 22
Page iii GAO-17-196 Newborn Screening Timeliness

Abbreviations

APHL Association of Public Health Laboratories 

HHS Department of Health and Human Services

HL7 Health Level 7

HRSA Health Resources and Services Administration

LIMS laboratory information management system

MOU memorandum of understanding

NewSTEPs Newborn Screening Technical assistance and Evaluation

Program

NICU neonatal intensive care unit

RUSP Recommended Uniform Screening Panel

This is a work of the U.S. government and is not subject to copyright protection in the 

United States. The published product may be reproduced and distributed in its entirety 

without further permission from GAO. However, because this work may contain 

copyrighted images or other material, permission from the copyright holder may be 

necessary if you wish to reproduce this material separately.
Page 1 GAO-17-196 Newborn Screening Timeliness

441 G St. N.W.

Washington, DC 20548

December 15, 2016

The Honorable Lamar Alexander

Chairman

The Honorable Patty Murray

Ranking Member

Committee on Health, Education, Labor, and Pensions

United States Senate

The Honorable Fred Upton

Chairman

The Honorable Frank Pallone, Jr. 

Ranking Member

Committee on Energy and Commerce

House of Representatives

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.1 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.2 As a result, states may experience varying barriers to 

 1

In this report, the term provider refers to medical professionals such as physicians, 

nurses, and midwives. 

2

In this report, the term states refers to all 50 states, the District of Columbia, Guam, and 

Puerto Rico. 

Letter
Page 2 GAO-17-196 Newborn Screening Timeliness

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.3 In addition, Congress created a clearinghouse 

for newborn screening information under the Newborn Screening Saves 

Lives Act of 2007.4 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.5

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).6 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

 3

Pub. L. No. 106-310, § 2601, 114 Stat. 1101, 1164 (2000) (codified, as amended, at 42 

U.S.C. § 300b-8).

4

Pub. L. No. 110-204 § 5, 122 Stat.705, 708-709 (2008) (codified, as amended, at 42 

U.S.C. § 300b-11).

5

The advisory committee provides information and recommendations about newborn 

screening to the Secretary of Health and Human Services.

6

Pub. L. No. 113-240, § 2, 128 Stat. 2851, 2852 (2014) (codified at 42 U.S.C. § 300b8(a)(5)).
Page 3 GAO-17-196 Newborn Screening Timeliness

1. what is known about the timeliness of newborn screening for heritable 

conditions; and

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 timeframe 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.7 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 2017.8 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 

 7

Although the time-frame goals were not in place for the entire period of time captured in 

the NewSTEPs report (2012 through 2015), the data provide useful information about the 

states’ past performance relative to these goals. Not all of the 38 states reported data for 

all years or all stages of the newborn screening process.

8

For the April 2015 letter, see 

http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendatio

ns/timelynewbornscreeninggoalschainletter.pdf (accessed March 1, 2016). 
Page 4 GAO-17-196 Newborn Screening Timeliness

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.9 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.

 9

This report was prepared by APHL for the advisory committee as part of a cooperative 

agreement with HRSA to administer NewSTEPs. Not all states responded to all questions. 

We assessed the reliability of information in the survey report by comparing it to related 

documents and interviewing stakeholders, and we determined the information was 

sufficiently reliable for our purposes. For more information about the survey, see 

https://www.aphl.org/AboutAPHL/publications/Documents/NBSTimelinessSuveyReport_1

0-2014.pdf (accessed April 28, 2016). 
Page 5 GAO-17-196 Newborn Screening Timeliness

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.10

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.

Newborn screening for heritable and other conditions begins with a 

provider collecting a blood specimen from a newborn within a few days of 

birth.11 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 

 10Documents we reviewed to understand states’ experiences with barriers to newborn 

screening timeliness included reports from an initiative called the Collaborative 

Improvement and Innovation Network. APHL administered this initiative as part of 

NewSTEPs to help improve newborn screening timeliness in eight states. The initiative 

involved identifying root causes of poor timeliness, creating goals and objectives to guide 

states’ efforts, and developing and sharing strategies to improve timeliness.

11Some newborn screening may involve point-of-care testing instead of blood specimen 

testing. This report focuses on timeliness of newborn screening using a blood specimen.

Background

Newborn Screening 

Overview
Page 6 GAO-17-196 Newborn Screening Timeliness

screening specimens or may contract with a private lab, a lab at a 

university medical school, or another state’s lab.12 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.13 Lab staff 

may report presumptive positive results to providers by, for example, fax 

or phone call before sending all normal and presumptive positive 

results.14

 12In this report, the term state lab refers to a lab designated by a state to test newborn 

screening specimens. 

13Presumptive positive results are positive screening results from an initial round of 

testing; they do not confirm that a newborn has a heritable or other condition. Presumptive 

positive results indicate that a newborn may be at risk for a heritable or other condition so 

that definitive follow-up testing can be offered to determine if the condition is truly present. 

For example, following a presumptive positive result from newborn screening for 

phenylketonuria, additional tests will be performed to determine whether the newborn has 

the condition, or a milder condition, which does not require treatment. 

14Newborn screening may also include activities conducted after results reporting, such as 

screening a second specimen and patient follow-up; these additional activities are outside 

the scope of this report.
Page 7 GAO-17-196 Newborn Screening Timeliness

Figure 1: Example of a Blood Specimen Card Used for Newborn Screening

Note: This figure shows an example of one state’s newborn screening specimen card, with identifying 

information removed.

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.

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 

Advisory Committee’s 

Time-Frame Goals
Page 8 GAO-17-196 Newborn Screening Timeliness

a list of conditions for which newborns should be screened.15 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.16 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.17

• 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.

 15Two conditions on the RUSP—critical congenital heart disease and hearing loss—

involve point-of-care testing rather than blood specimen testing. According to HRSA 

officials, these two conditions, as well as primary congenital hypothyroidism (which 

involves blood specimen testing), are not strictly considered heritable conditions, but 

require early screening. See appendix II for more information about conditions on the 

RUSP.

16In 2001, HRSA contracted with the American College of Medical Genetics to convene an 

expert group to review available information on newborn screening and to make 

recommendations based on an analysis of scientific evidence in order to strengthen 

newborn screening in states. The report on this work, which recommended a minimum 

uniform panel of conditions for screening in states, also included the following time-frame 

goals: (1) all newborn screening results from first specimens should be available for the 

first post-hospital discharge visit within 5 days of specimen collection; (2) most results 

should be available within 2 days of a specimen arriving at a lab; and (3) specimens 

should arrive at a lab within 3 days of specimen collection. For more information about this 

report, see 

http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/uniformscreenin

g.pdf, page 93 (accessed February 8, 2016). In September 2005, the advisory committee 

communicated its endorsement of the report and recommended that the Secretary of 

Health and Human Services initiate action to facilitate adoption of the panel of conditions 

by every state.

17The advisory committee adopted the definition of time-critical conditions from the 

Society of Inherited Metabolic Conditions. 
Page 9 GAO-17-196 Newborn Screening Timeliness

• In April 2015, the advisory committee sent a letter to the Secretary of 

Health and Human Services with new time-frame goals.18 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-timecritical 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 

 18These time-frame goals apply to newborn screening using blood specimen tests; they 

do not apply to the two conditions (critical congenital heart disease and hearing loss) on 

the RUSP that involve point-of-care testing. 
Page 10 GAO-17-196 Newborn Screening Timeliness

percent of specimens by 2017. (See fig. 2 for more information about the 

2015 time-frame goals.)

Figure 2: Activities Included in the Newborn Screening Process and Related Time-Frame Goals Set by the Advisory 

Committee on Heritable Disorders for Newborns and Children in 2015
Page 11 GAO-17-196 Newborn Screening Timeliness

Notes: The time-frame goals shown in this figure were recommended by the Department of Health 

and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children in April 

2015. Newborn screening may include additional activities that take place after stage 3, such as 

screening for a second specimen and patient follow-up. The activities and time-frame goals shown in 

this figure do not apply to newborn screening for conditions that involve point-of-care testing, such as 

hearing loss.

HRSA’s Maternal and Child Health Bureau has responsibility for 

enhancing, improving, and expanding the ability of states to provide 

newborn screening.19 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.20 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.

 19Other HHS agencies conduct work related to newborn screening. The Centers for 

Disease Control and Prevention helps state labs implement testing for new conditions and 

ensure the quality of their newborn screening tests through a quality assurance program; 

the Centers for Medicare & Medicaid Services regulates lab testing performed on human 

specimens, including newborn screening specimens, and administers Medicaid, which 

covers newborn screening for eligible infants; the Food and Drug Administration reviews 

and clears the newborn screening cards used for specimen collection, clears or approves 

newborn screening diagnostic tests, and also approves safe and effective treatments for 

heritable conditions; and the National Institutes of Health has sponsored research on 

conditions identified through newborn screening.

20NewSTEPs was authorized by the Newborn Screening Saves Lives Act of 2007. See 

Pub. L. No. 110-204 § 2, 122 Stat.705, 705-706 (2008) (codified, as amended, at 42 

U.S.C. § 300b-8). In June 2012, HRSA entered into a cooperative agreement with APHL 

to administer NewSTEPs through June 2018. NewSTEPs is a collaborative effort between 

APHL and the University of Colorado’s School of Public Health, with both organizations 

operating in partnership. In this report, references to NewSTEPs represent the combined 

work of both organizations.

HRSA’s Newborn 

Screening Efforts
Page 12 GAO-17-196 Newborn Screening Timeliness

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 mid2016.

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.21 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 

 21NewSTEPs 360 was authorized by the Newborn Screening Saves Lives Reauthorization 

Act of 2007, as amended by the Newborn Screening Saves Lives Reauthorization Act of 

2014. See Pub. L. No. 113-204 § 2, 122 Stat.705, 705-706 (2008), as amended by Pub. L. 

No. 113-240, § 2, 128 Stat. 2851, 2851-2852 (2014) (codified at 42 U.S.C. § 200b-8). In 

June 2015, HRSA entered into a cooperative agreement with the University of Colorado’s 

School of Public Health to administer NewSTEPs 360 through August 2018. NewSTEPs 

360 is a collaborative effort between the University of Colorado’s School of Public Health 

and APHL, with both organizations operating in partnership. In this report, references to 

NewSTEPs 360 represent the combined work of both organizations. 
Page 13 GAO-17-196 Newborn Screening Timeliness

monthly timeliness data into the data repository.22 Twenty-eight states 

were participating in this program, as of October 26, 2016.23

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.

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.

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 

 22These monthly timeliness data are based on the same measures used by states 

entering annual timeliness data into the data repository under NewSTEPs.

23HRSA reported that in addition to NewSTEPs and NewSTEPs 360, the agency provided 

funding to the Association of State and Territorial Health Officials in June 2014 to support 

the development of policy and programmatic approaches to improve the quality of 

newborn screening in six states. All six states worked on newborn screening timeliness as 

a part of this work, which was completed in January 2015.

Most States Had Not 

Met the Advisory 

Committee’s 

Benchmark for 

Newborn Screening 

Timeliness, but Data 

Challenges Limit a 

Full Understanding of 

Timeliness Trends

Most States that Reported 

Timeliness Data Had Not 

Met the Advisory 

Committee’s Benchmark, 

but Improved Over Time

Timeliness Data for Reporting 

All Results for All Conditions
Page 14 GAO-17-196 Newborn Screening Timeliness

timeliness data for this measure met this 95 percent benchmark. (See fig. 

3.)

Figure 3: States’ Percentages of Specimens for Which Results Were Reported to Providers within 7 Days of Birth, 2015 (All 

Newborn Screening Results for All Conditions)

In 2015, 5 of 27 states met the 95 percent benchmark for reporting all newborn screening results for all conditions within 7 days, and 1 

state was within 1 percentage point of the benchmark. The Advisory Committee on Heritable Disorders for Newborns and Children 

encouraged states to achieve the 95 percent benchmark by 2017.

Notes: This figure shows the percentages of first specimens screened (birth to reporting of 

presumptive positive and normal results for time-critical and non-time-critical conditions) within 

various time categories in each of the 27 states that provided data for this time-frame goal. 

NewSTEPs rounded percentages to the nearest tenth of a percentage to determine the number of 

states that met the 95 percent benchmark. The 7-day time-frame goal was recommended by the 

Department of Health and Human Services’ Advisory Committee on Heritable Disorders for Newborns 

and Children in April 2015. The committee encouraged states to achieve this goal for 95 percent of 

specimens by 2017.
Page 15 GAO-17-196 Newborn Screening Timeliness

a

These five states met the 95 percent benchmark (95.38 to 98.59 percent).

b

This state did not meet the benchmark, but was within 1 percentage point (94.54 percent).

c

This state reported that less than 1 percent of all newborn screening results were reported within 7 

days of birth.

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.

Table 1: Number of States Meeting the 2017 Benchmark for Reporting All Newborn Screening Results for All Conditions 

within 7 Days of Birth, by Year (2012-2015)

Year Number of states Percentage of specimens with newborn screening results 

reported to providers within 7 days of birth

Reporting data Meeting 

benchmark

(7-day time-frame 

goal met for at 

least 95 percent 

of specimens)

Not meeting 

benchmark

(7-day time-frame 

goal met for less 

than 95 percent 

of specimens) 

Median

(half of the states 

reported 7-day 

time-frame goal met 

for at least this 

percentage of 

specimens)

Upper quartile

(one-fourth of the 

states reported 7-

day time-frame 

goal met for at 

least this 

percentage of 

specimens)

Range

(lowest - highest 

percentage 

reported by a 

state)

2012 27 3 24 45.4 77.1 0.8 – 97.8

2013 27 2 25 40.1 79.8 1.2 – 98.1

2014 28 2 26 42.6 79.6 0.0 – 98.1

2015 27 5 22 59.0 90.2 0.0 – 98.5

Source: GAO analysis of information from the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs). | GAO-17-196

Notes: This table shows the percentages of first newborn screening specimens screened (birth to 

reporting of presumptive positive and normal results for time-critical and non-time-critical conditions) 

within 7 days in the 28 states that provided data for this time-frame goal. Not all states reported data 

for all years. NewSTEPs rounded percentages to the nearest tenth of a percentage to determine the 

number of states that met the 95 percent benchmark. In 2015, 5 states met this benchmark (95.38 to 

98.59 percent), 1 additional state was within 1 percentage point of the benchmark (94.54 percent), 

and 1 state had less than 1 percent of its specimens screened within 7 days of birth. The 7-day timeframe goal was recommended by the Department of Health and Human Services’ Advisory 

Committee on Heritable Disorders for Newborns and Children in 2015. The committee encouraged 

states to achieve this goal for 95 percent of specimens by 2017.

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 

Timeliness Data for 

Presumptive Positive Results 

for Time-Critical Conditions
Page 16 GAO-17-196 Newborn Screening Timeliness

states that reported on this measure met the 95 percent benchmark. (See 

fig. 4.)

Figure 4: States’ Percentages of Specimens for Which Results Were Reported to 

Providers within 5 Days of Birth, 2015 (Presumptive Positive Results for TimeCritical Conditions)

In 2015, none of the 16 states met the 95 percent benchmark for reporting presumptive 

positive newborn screening results for time-critical conditions within 5 days. The Advisory 

Committee on Heritable Disorders for Newborns and Children encouraged states to 

achieve the 95 percent benchmark by 2017.

Notes: This figure shows the percentages of first newborn screening specimens reporting 

presumptive positive newborn screening results for time-critical conditions within various time 

categories in each of the 16 states that provided data for this time-frame goal. NewSTEPs rounded 

percentages to the nearest tenth of a percentage to determine the number of states that met the 95 

percent benchmark. The 5-day time-frame goal was recommended by the Department of Health and 

Human Services’ Advisory Committee on Heritable Disorders for Newborns and Children in April 

2015. The committee encouraged states to achieve this goal for 95 percent of specimens by 2017.

a

This state was within 1 percentage point of the 95 percent benchmark (94.26 percent).

b

This state reported that no presumptive positive newborn screening results for time-critical conditions 

were reported within 5 days of birth.
Page 17 GAO-17-196 Newborn Screening Timeliness

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).

Table 2: Number of States Meeting the 2017 Benchmark for Reporting Presumptive Positive Results for Time-Critical 

Conditions within 5 Days of Birth, by Year (2012-2015)

Year Number of states Percentage of specimens with newborn screening results 

reported to providers within 5 days of birth

Reporting data Meeting 

benchmark

(5-day time-frame 

goal met for at 

least 95 percent of 

specimens)

Not meeting 

benchmark

(5-day time-frame 

goal met for less 

than 95 percent 

of specimens)

Median

(half of the states 

reported 5-day 

time-frame goal met 

for at least this 

percentage of 

specimens)

Upper quartile

(one-fourth of the 

states reported 5-

day time-frame 

goal met for at 

least this 

percentage of 

specimens)

Range

(lowest - highest 

percentage 

reported by a 

state)

2012 14 0 14 22.7 46.9 0.0 – 88.4

2013 14 0 14 22.9 70.1 0.0 – 89.0

2014 15 2 13 28.1 61.5 0.0 – 100.0

2015 16 0 16 23.6 68.0 0.0 – 94.2

Source: GAO analysis of information from the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs). | GAO-17-196

Notes: This table shows the percentages of first newborn screening specimens screened (birth to 

reporting of presumptive positive results for time-critical conditions) within 5 days in the 16 states that 

provided data for this time-frame goal. Not all states reported data for all years. NewSTEPs rounded 

percentages to the nearest tenth of a percentage to determine the number of states that met the 95 

percent benchmark. In 2015, none of the states met the benchmark, 1 state was within 1 percentage 

point of the benchmark (94.26 percent), and 1 state had none of its specimens screened within 5 

days of birth. The 5-day time-frame goal was recommended by the Department of Health and Human 

Services’ Advisory Committee on Heritable Disorders for Newborns and Children in April 2015. The 

committee encouraged states to achieve this goal for 95 percent of specimens by 2017.
Page 18 GAO-17-196 Newborn Screening Timeliness

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.)

Figure 5: States’ Percentages of Specimens for Which Results Were Reported to 

Providers within 7 Days of Birth, 2015 (Presumptive Positive Results for Non-TimeCritical Conditions)

In 2015, 2 of 16 states met the 95 percent benchmark for reporting presumptive positive 

newborn screening results for non-time-critical conditions within 7 days. The Advisory 

Committee on Heritable Disorders for Newborns and Children encouraged states to 

achieve the 95 percent benchmark by 2017.

Notes: This figure shows the percentages of first newborn screening specimens reporting 

presumptive positive newborn screening results for non-time-critical conditions within various time 

categories in each of the 16 states that provided data for this time-frame goal. The 7-day time-frame 

goal was recommended by the Department of Health and Human Services’ Advisory Committee on 

Heritable Disorders for Newborns and Children in April 2015. The committee encouraged states to 

achieve this goal for 95 percent of specimens by 2017.

Timeliness Data for 

Presumptive Positive Results 

for Non-Time-Critical 

Conditions
Page 19 GAO-17-196 Newborn Screening Timeliness

a

These two states met the 95 percent benchmark (95.91 and 100.00 percent).

The states’ data for reporting presumptive positive results for non-timecritical 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.)

Table 3: Number of States Meeting the 2017 Benchmark for Reporting Presumptive Positive Results for Non-Time-Critical 

Conditions within 7 Days of Birth, by Year (2012-2015)

Year Number of states Percentage of specimens with newborn screening results 

reported to providers within 7 days of birth

Reporting data Meeting 

benchmark

(7-day time-frame 

goal met for at 

least 95 percent 

of specimens) 

Not meeting 

benchmark

(7-day time-frame 

goal met for less 

than 95 percent 

of specimens) 

Median

(half of the states 

reported 7-day 

time-frame goal met 

for at least this 

percentage of 

specimens)

Upper quartile

(one-fourth of the 

states reported 7-

day time-frame 

goal met for at 

least this 

percentage of 

specimens)

Range

(lowest - highest 

percentage 

reported by a 

state)

2012 14 0 14 51.7 75.0 13.8 – 93.8

2013 14 0 14 48.5 75.2 5.6 – 94.9

2014 15 2 13 51.9 92.6 0.0 – 100.0

2015 16 2 14 54.8 79.2 12.0 – 100.0

Source: GAO analysis of information from the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs). | GAO-17-196

Notes: This table shows the percentages of first newborn screening specimens screened (birth to 

reporting of presumptive positive results for non-time-critical conditions) within 7 days in the 16 states 

that provided data for this time-frame goal. Not all states reported data for all years. The 7-day timeframe goal was recommended by the Department of Health and Human Services’ Advisory 

Committee on Heritable Disorders for Newborns and Children in April 2015. The committee 

encouraged states to achieve this goal for 95 percent of specimens by 2017.

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.)

Timeliness Data for Stage 1 of 

the Newborn Screening 

Process
Page 20 GAO-17-196 Newborn Screening Timeliness

Figure 6: States’ Percentages of Newborn Screening Specimens Collected within 48 Hours of Birth, 2015

In 2015, 10 of 35 states met the 95 percent benchmark for collecting specimens within 48 hours of birth, and 5 additional states were 

within 1 percentage point of the benchmark. The Advisory Committee on Heritable Disorders for Newborns and Children encouraged 

states to achieve the 95 percent benchmark by 2017.

Notes: This figure shows the percentages of first newborn screening specimens collected within 

various time categories in each of the 35 states that provided data for this time-frame goal. 

NewSTEPs rounded percentages to the nearest tenth of a percentage to determine the number of 

states that met the 95 percent benchmark. The 48-hour time-frame goal was recommended by the 

Department of Health and Human Services’ Advisory Committee on Heritable Disorders for Newborns 

and Children in April 2015. The committee encouraged states to achieve this goal for 95 percent of 

specimens by 2017.

a

These 10 states met the 95 percent benchmark (94.98 to 99.90 percent).

b

These five states were within 1 percentage point of the benchmark (94.22 to 94.70 percent).
Page 21 GAO-17-196 Newborn Screening Timeliness

Table 4: Number of States Meeting the 2017 Benchmark for Collecting Newborn Screening Specimens within 48 Hours of 

Birth, by Year (2012-2015)

Year Number of states Percentage of specimens collected within 48 hours of 

birth

Reporting data Meeting 

benchmark

(48-hour timeframe goal met 

for at least 95 

percent of 

specimens)

Not meeting 

benchmark

(48-hour timeframe goal met 

for less than 95 

percent of 

specimens) 

Median

(half of the states 

reported 48-hour 

time-frame goal met 

for at least this 

percentage of 

specimens)

Upper quartile

(one-fourth of the 

states reported 

48-hour timeframe goal met for 

at least this 

percentage of 

specimens)

Range

(lowest - highest 

percentage 

reported by a 

state)

2012 33 3 30 86.3 90.4 13.5 – 99.8

2013 33 5 28 87.8 92.8 13.2 – 99.9

2014 35 7 28 89.6 94.5 13.0 – 100.0

2015 35 10 25 92.8 96.6 13.0 – 99.9

Source: GAO analysis of information from the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs). | GAO-17-196

Notes: This table shows the percentages of first newborn screening specimens collected within 48 

hours of birth in the 35 states that provided data for this time-frame goal. Not all states reported data 

for all years. NewSTEPs rounded percentages to the nearest tenth of a percentage to determine the 

number of states that met the 95 percent benchmark. In 2015, 10 states met the benchmark (94.98 to 

99.90 percent) and 5 additional states were within 1 percentage point of the benchmark (94.22 to 

94.70 percent). The 48-hour time-frame goal was recommended by the Department of Health and 

Human Services’ Advisory Committee on Heritable Disorders for Newborns and Children in April 

2015. The committee encouraged states to achieve this goal for 95 percent of specimens by 2017.

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).

Timeliness Data for Stage 2 of 

the Newborn Screening 

Process
Page 22 GAO-17-196 Newborn Screening Timeliness

Figure 7: States’ Percentages of Newborn Screening Specimens Arriving at the Lab within 24 Hours of Collection, 2015

In 2015, none of the 34 states met the 95 percent benchmark for specimens arriving at a state lab within 24 hours of specimen 

collection. The Advisory Committee on Heritable Disorders for Newborns and Children encouraged states to achieve the 95 percent 

benchmark by 2017.

Notes: This figure shows the percentages of first newborn screening specimens arriving at the lab 

within 24 hours of collection in each of the 34 states that provided data for this time-frame goal. 

Twelve of the states had less than 1 percent or none of its specimens arriving at the lab within 24 

hours of collection. The 24-hour time-frame goal was recommended by the Department of Health and 

Human Services’ Advisory Committee on Heritable Disorders for Newborns and Children in April 

2015. The committee encouraged states to achieve this goal for 95 percent of specimens by 2017.
Page 23 GAO-17-196 Newborn Screening Timeliness

Table 5: Number of States Meeting the 2017 Benchmark for Arrival of Newborn Screening Specimen at Lab within 24 Hours of 

Collection, by Year (2012-2015)

Year Number of states Percentage of specimens arrived at lab within 24 hours

Reporting data Meeting 

benchmark

(24-hour timeframe goal met 

for at least 95 

percent of 

specimens)

Not meeting 

benchmark

(24-hour timeframe goal met 

for less than 95 

percent of 

specimens)

Median

(half of the states 

reported 24-hour 

time-frame goal 

met for at least this 

percentage of 

specimens)

Upper quartile

(one-fourth of the 

states reported 

24-hour timeframe goal met for 

at least this 

percentage of 

specimens)

Range

(lowest - highest 

percentage 

reported by a 

state)

2012 32 0 32 3.4 12.1 0.0 – 52.8

2013 32 0 32 3.5 12.9 0.0 – 50.7

2014 33 0 33 3.4 23.5 0.0 – 54.7

2015 34 0 34 7.4 25.6 0.0 – 66.6

Source: GAO analysis of information from the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs). | GAO-17-196

Notes: This table shows the percentages of first newborn screening specimens arriving at a newborn 

screening lab within 24 hours of specimen collection in the 34 states that provided data for this timeframe goal. Not all states reported data for all years. In 2015, 12 states had less than 1 percent or 

none of its specimens arriving at the lab within 24 hours of birth. The 24-hour time-frame goal was 

recommended by the Department of Health and Human Services’ Advisory Committee on Heritable 

Disorders for Newborns and Children in April 2015. The committee encouraged states to achieve this 

goal for 95 percent of specimens by 2017.

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.24 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 timeframe 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 

 24The 15 states that were not included in the NewSTEPs August 2016 report were: 

Connecticut, District of Columbia, Guam, Idaho, Kansas, Kentucky, Maryland, 

Massachusetts, Michigan, Mississippi, Montana, Nevada, Oklahoma, Utah, and West 

Virginia.

Missing Data and 

Variations in Data 

Collection Limit a Full 

Understanding of Newborn 

Screening Timeliness 

Trends, but HRSA Has 

Been Addressing These 

Challenges
Page 24 GAO-17-196 Newborn Screening Timeliness

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-timecritical 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 
Page 25 GAO-17-196 Newborn Screening Timeliness

NewSTEPs.25 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.

 25Not all of the 35 states with signed MOUs have started entering data into the data 

repository. APHL officials told us they expect all states with signed MOUs to be entering 

annual timeliness data on a yearly basis by April 2017. 
Page 26 GAO-17-196 Newborn Screening Timeliness

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.

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.

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.

Table 6: Selected Barriers and Examples of Strategies for Timely Newborn Screening from Birth to Specimen Collection

Newborn screening officials who responded to a 2014 survey identified barriers to timely newborn screening from birth to specimen 

collection, and selected states involved in newborn screening activities developed strategies to address barriers.

Barrier Strategy

Hospital nursing protocols are not always consistent with 

advisory committee goals. 

Change hospital nursing protocols to be consistent with timeliness 

goals, and provide education to providers on such changes.

Lack of feedback from newborn screening officials at the 

state level to hospitals on timeliness performance.

Provide feedback to hospitals regularly, including information on 

performance related to timeliness goals and cases where the 

timeliness goals were not met.

States Identified 

Numerous Barriers 

Affecting Timeliness, 

and a Variety of 

Strategies Have Been 

Developed to Address 

Them

States Identified 

Numerous Barriers to 

Timeliness throughout the 

Newborn Screening 

Process and Some States 

Have Developed 

Strategies to Address 

Them

Stage 1: Birth to Specimen 

Collection
Page 27 GAO-17-196 Newborn Screening Timeliness

Barrier Strategy

Premature infants and infants transferred shortly after birth. Provide hospital feedback with a subset of information specific to 

neonatal intensive care units (NICU) and targeted educational 

presentations to NICUs.

Lack of understanding of the importance of timely screening 

among providers performing out-of-hospital births.

Conduct focused outreach and training to midwives on the importance 

of timely screening.

Staffing issues, such as high turnover, result in some 

providers being unfamiliar with newborn screening timeliness 

initiatives.

Provide ongoing and reinforced education through, for example, an 

educational video for new hospital staff.

Source: GAO analysis of information from the Advisory Committee on Heritable Disorders in Newborns and Children, and newborn screening officials in selected states. | GAO-17-196

Note: The selected barriers shown in this table include barriers identified by respondents to the 

advisory committee’s 2014 survey as having a major or moderate impact on timeliness; barriers that 

were frequently reported by survey respondents in the written responses; or barriers in the survey 

that were highlighted by a number of state newborn screening officials in published presentations and 

reports.

Newborn screening officials from selected states reported that following 

nursing protocols that are inconsistent with the advisory committee’s timeframe 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 
Page 28 GAO-17-196 Newborn Screening Timeliness

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.

Source: GAO analysis of information from the Advisory Committee on Heritable Disorders in Newborns and Children, and newborn 

screening officials in Arizona. | GAO-17-196

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.)

Table 7: Selected Barriers and Examples of Strategies for Timely Newborn Screening from Specimen Collection to Lab Arrival

Newborn screening officials who responded to a 2014 survey identified barriers to timely newborn screening from specimen collection 

to lab arrival, and selected states involved in newborn screening activities developed strategies to address barriers.

Barrier Strategy

Waiting to send specimens to the lab in batches. Conduct site visits and provide education on the importance of timely 

transport of specimens.

Operating hours of the lab may result in specimens not 

arriving in a timely way.

Increase lab operating hours to include Saturday hours for receipt and 

testing of specimens.

Transport of specimens by mail due to lack of courier service. Expand courier service to all providers and offer transport services 6 

days per week.

Geographic distance from the lab. Expand courier service to all providers, including transport of 

specimens further from the lab by flight.

Lack of understanding of the importance of timely specimen 

transport for out-of-hospital births.

Provide courier service to all midwives, and provide education on the

importance of timely transport of specimens.

Stage 2: Specimen Collection 

to Lab Arrival
Page 29 GAO-17-196 Newborn Screening Timeliness

Barrier Strategy

Problems tracking date and time specimen was sent to or 

arrived at the lab, and lack of feedback to hospitals on their 

performance.

Update laboratory information management systems to include date 

and time specimen was sent and arrived at the lab, and provide report 

cards to hospitals on transit times. 

Source: GAO analysis of information from the Advisory Committee on Heritable Disorders in Newborns and Children, and newborn screening officials in selected states. | GAO-17-196

Note: The selected barriers shown in this table include barriers identified by respondents to the 

advisory committee’s 2014 survey as having a major or moderate impact on timeliness; barriers that 

were frequently reported by survey respondents in the written responses; or barriers in the survey 

that were highlighted by a number of state newborn screening officials in published presentations and 

reports.

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.26 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. 

 26According to officials in one selected state, batching has occurred for a variety of 

reasons, including when lab staff thought they were saving the state money by sending 

larger shipments of specimens every few days, rather than sending specimens to the lab 

daily. Batching has also occurred unintentionally, when, for example, there was no 

designated provider to collect specimen cards from the drying rack to prepare them for 

transport. 
Page 30 GAO-17-196 Newborn Screening Timeliness

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.

Source: GAO analysis of information from the Advisory Committee on Heritable Disorders in Newborns and Children, and newborn 

screening officials in Colorado. | GAO-17-196

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.)

Table 8: Selected Barriers and Examples of Strategies for Timely Newborn Screening from Lab Arrival to Results Reporting

Newborn screening officials who responded to a 2014 survey identified barriers to timely newborn screening from lab arrival to results 

reporting, and selected states involved in newborn screening activities developed strategies to address barriers.

Barrier Strategy

Lab operating hours limit times that test results can be 

reported.

Expand operating hours to include reporting 6 days per week. 

Reliance on mail limits how quickly test results are shared 

with provider.

Implement more timely reporting methods, such as fax or electronic 

reporting. 

Lack of standardization of laboratory information 

management systems (LIMS) hinders feedback and slows 

reporting.

Update LIMS to align with relevant quality indicators to provide more 

accurate feedback, and to allow electronic messaging, reducing the 

burden on lab staff. 

Delays in lab processes, such as some tests being run only 

twice per week.

Evaluate lab hours and staffing levels and increase the frequency of 

some testing procedures.

Specimen arrival at the lab past the time-frame goal, which 

may indicate problems with specimen quality for testing (e.g., 

specimen stored outside room temperature). 

If specimen arrives outside the time frame, notify sender to request a 

new specimen.

a

Source: GAO analysis of information from the Advisory Committee on Heritable Disorders in Newborns and Children, and newborn screening officials in selected states. | GAO-17-196

Note: The selected barriers shown in this table include barriers identified by respondents to the 

advisory committee’s 2014 survey as having a major or moderate impact on timeliness or barriers 

that were frequently reported by survey respondents in the written responses.

a

Officials told us that they request an additional specimen if the first specimen is received more than 7 

days after collection, because the age of the first specimen and unknown storage conditions while 

delayed in transit may compromise test results. However, the first specimen is still tested to help 

ensure timely results. Officials stated that this type of delay is an infrequent occurrence.

Stage 3: Results Reporting
Page 31 GAO-17-196 Newborn Screening Timeliness

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.

Source: GAO analysis of information from the Advisory Committee on Heritable Disorders in Newborns and Children, and newborn 

screening officials in Wisconsin. | GAO-17-196
Page 32 GAO-17-196 Newborn Screening Timeliness

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 shortterm 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 

HRSA Has Started 

Supporting States through 

Technical Assistance to 

Help Address Timeliness 

Barriers
Page 33 GAO-17-196 Newborn Screening Timeliness

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 
Page 34 GAO-17-196 Newborn Screening Timeliness

collecting newborn screening specimens—into nurses’ protocols for 

newborn screening.27

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.

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 

 27As of October 31, 2016, these recommendations had not been finalized. According to a 

Genetic Alliance official involved in developing the recommendations, the organization 

plans to present its findings and recommendations from the focus groups at association 

conferences in 2017.

Agency Comments 

and Our Evaluation
Page 35 GAO-17-196 Newborn Screening Timeliness

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 timeframe 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.

Marcia Crosse

Director, Health Care
Appendix I: Scope and Methodology

Page 36 GAO-17-196 Newborn Screening Timeliness

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).1 The August 2016 report included data collected 

from states through a data repository maintained by APHL under 

NewSTEPs.2

The data repository includes (but is not limited to) annual timeliness data 

collected from states participating in NewSTEPs.3 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.4 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 

 1

NewSTEPs is a collaborative effort between APHL and the University of Colorado’s 

School of Public Health, with both organizations operating in partnership. Timeliness data 

we obtained from NewSTEPs in the August 2016 report reflect the combined work of both 

organizations.

2

In this report, the term states refers to all 50 states, the District of Columbia, Guam, and 

Puerto Rico. States are required to have a signed memorandum of understanding (MOU) 

with APHL in order to enter timeliness data into the data repository. According to HHS, as 

of November 20, 2016, 35 of 53 states had a signed MOU.

3

The data repository also includes, for example, equivalent monthly timeliness data 

collected from states participating in another program called NewSTEPs 360 and public 

health surveillance case data from states participating in NewSTEPs. The case data 

measure timeliness for each newborn, including hours from birth to specimen collection, 

days from birth to specimen receipt at the lab, days from birth to reporting results, days 

from birth to intervention, and days from birth to a confirmed diagnosis. This allows 

NewSTEPs and states entering data to track continuous timeliness measures for 

confirmed cases throughout the newborn screening process by condition, by condition 

category, and by the time-critical nature of treating the condition.

4

Although the time-frame goals were not in place for the entire period of time captured in 

NewSTEPs August 2016 report (2012 through 2015), the data provide useful information

about the states’ past performance relative to these goals.

Appendix I: Scope and Methodology
Appendix I: Scope and Methodology

Page 37 GAO-17-196 Newborn Screening Timeliness

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 2015.5 The 

NewSTEPs report also included the median, quartiles, minimum, and 

maximum percentage meeting the 2015 time-frame goal in each year.

Table 9: States Represented in the Newborn Screening Technical Assistance and 

Evaluation Program (NewSTEPs) August 2016 Report on Newborn Screening 

Timeliness

States represented in report (total=38) States not represented in report 

(total=15)

Alabama, Alaska, Arizona, Arkansas, 

California, Colorado, Delaware, Florida, 

Georgia, Hawaii, Illinois, Indiana, Iowa, 

Louisiana, Maine, Minnesota, Missouri, 

Nebraska, New Hampshire, New Jersey, 

New Mexico, New York, North Carolina, 

North Dakota, Ohio, Oregon, Pennsylvania, 

Puerto Rico, Rhode Island, South Carolina, 

South Dakota, Tennessee, Texas, 

Vermont, Virginia, Washington, Wisconsin, 

and Wyoming. 

Connecticut, District of Columbia, Guam, 

Idaho, Kansas, Kentucky, Maryland, 

Massachusetts, Michigan, Mississippi, 

Montana, Nevada, Oklahoma, Utah, West 

Virginia

Source: GAO analysis of information from NewSTEPs. | GAO-17-196

Notes: In this table, states include all 50 states, the District of Columbia, Guam, and Puerto Rico. This 

table shows the 38 states for which annual timeliness data were represented in NewSTEPs’ August 

2016 report. Not all of the reporting states provided data for all time-frame goals or all years (2012-

2015).

 5

In addition to calculating percentages based on the advisory committee’s 2015 timeframe goals, NewSTEPs calculated percentages for stage 3 of the newborn screening 

process (specimen lab arrival to reporting of results) based on a 4-day time-frame goal. 

The advisory committee, however, does not have a time-frame goal for stage 3. 

NewSTEPs used the 4-day time-frame goal, because it is the difference between the 

combined time-frame goals for stages 1 and 2 (48 hours for specimen collection and 24 

hours for lab arrival) and the 7-day goal for the full newborn screening process. In our 

review, we only included data based on advisory committee time-frame goals. 
Appendix I: Scope and Methodology

Page 38 GAO-17-196 Newborn Screening Timeliness

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 cochaired 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 
Appendix I: Scope and Methodology

Page 39 GAO-17-196 Newborn Screening Timeliness

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.6 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 

 6

This report was prepared by APHL for the advisory committee as part of a cooperative 

agreement with HRSA to administer NewSTEPs. We assessed the reliability of 

information in the survey report by comparing it to related documents and interviewing 

stakeholders, and we determined the information was sufficiently reliable for our purposes. 

For more information about the survey, see 

https://www.aphl.org/AboutAPHL/publications/Documents/NBSTimelinessSuveyReport_1

0-2014.pdf (accessed April 28, 2016). 
Appendix I: Scope and Methodology

Page 40 GAO-17-196 Newborn Screening Timeliness

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.7 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 

 7

Documents we reviewed to understand states’ experiences with barriers to newborn 

screening timeliness included reports from an initiative called the Collaborative 

Improvement and Innovation Network. APHL administered this initiative to help improve 

newborn screening timeliness in eight states. The initiative involved identifying root causes 

of poor timeliness, creating goals and objectives to guide states’ efforts, and developing 

and sharing strategies to improve timeliness.
Appendix I: Scope and Methodology

Page 41 GAO-17-196 Newborn Screening Timeliness

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).
Appendix II: Heritable and Other Conditions on 

the Recommended Uniform Screening Panel 

(RUSP) as of March 2015

Page 42 GAO-17-196 Newborn Screening Timeliness

Condition Frequency Description 

Time-critical conditions

3-Hydroxy-3-

Methyglutaric Aciduria 

(HMG)

<1 in 100,000 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. 

Argininosuccinic 

Aciduria (ASA)

<1 in 100,000 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. 

Beta-Ketothiolase 

Deficiency (BKT)

<1 in100,000 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. 

Citrullinemia, Type I 

(CIT)

<1 in 100,000 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. 

Classic Galactosemia 

(GALT)

>1 in 50,000 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. 

Congenital adrenal 

hyperplasia (CAH)

>1 in 25,000 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. 

Glutaric Acidemia Type 

1 (GA1)

>1 in 75,000 Inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxyllysine, 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. 

Holocarboxylase 

Synthase Deficiency 

(MCD)

1 in 87,000 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.

Isovaleric Acidemia 

(IVA)

<1 in 100,000 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. 

Appendix II: Heritable and Other Conditions 

on the Recommended Uniform Screening 

Panel (RUSP) as of March 2015
Appendix II: Heritable and Other Conditions on 

the Recommended Uniform Screening Panel 

(RUSP) as of March 2015

Page 43 GAO-17-196 Newborn Screening Timeliness

Condition Frequency Description 

Long-chain L-3 

Hydroxyacyl-CoA 

Dehydrogenase 

Deficiency (LCHAD)

>1 in 75,000 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. 

Maple Syrup Urine 

Disease (MSUD)

<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.

Medium-chain Acyl-CoA 

Dehydrogenase 

Deficiency (MCAD)

>1 in 25,000 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. 

Methylmalonic Acidemia 

or methylmalonyl-CoA 

mutase (MUT)

>1 in 75,000 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. 

Propionic Acidemia 

(PROP)

>1 in 75,000 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. 

Trifunctional Protein 

Deficiency (TFP)

<1 in 100,000 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. 

Very Long-chain AcylCoA Dehydrogenase 

Deficiency (VLCAD) 

>1 in 75,000 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. 

Non-time-critical conditions

3-Methylcrotonyl-CoA 

Carboxylase Deficiency 

(3-MCC)

>1 in 75,000 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. 

Biotinidase Deficiency 

(BIOT)

>1 in 75,000 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. 

Carnitine Uptake

Defect/Carnitine 

Transport Defect (CUD)

<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. 
Appendix II: Heritable and Other Conditions on 

the Recommended Uniform Screening Panel 

(RUSP) as of March 2015

Page 44 GAO-17-196 Newborn Screening Timeliness

Condition Frequency Description 

Classic Phenylketonuria 

(PKU)

>1 in 25,000 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. 

Critical Congenital Heart 

Disease (CCHD)a 18 in 10,000 A group of seven heart defects. Babies born with CCHD are at significant risk of disability or death if not diagnosed soon after birth. 

Cystic Fibrosis (CF) >1 in 5,000 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. 

Glycogen Storage 

Disease Type II –

Pompe (GSDII) 

~1 in 40,000 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. 

Hb S/Beta-Thalassemia 

(Hb S/BTh) 

>1 in 50,000 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 

Hb S/C Disease (Hb 

S/C)

>1 in 25,000 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.

Hearing Lossa >1 in 5,000 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. 

Homocystinuria (HCY) <1 in 100,000 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. 

Methylmalonic Acidemia 

– Cobalamin disorders 

(Cbl A, B)

<1 in 100,000 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. 

Primary Congenital 

Hypothyroidism (CH)

>1 in 5,000 Thyroid hormone deficiency that severely retards growth and brain development.

Treatment includes thyroid hormone replacement therapy with dietary restrictions. 

Severe Combined 

Immunodeficiencies 

(SCID)

>1 in 100,000 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 Anemia – S, 

S Disease (Hb SS)

>1 in 5,000 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. 
Appendix II: Heritable and Other Conditions on 

the Recommended Uniform Screening Panel 

(RUSP) as of March 2015

Page 45 GAO-17-196 Newborn Screening Timeliness

Condition Frequency Description 

Tyrosinemia, Type I 

(TYR I) 

<1 in 100,000 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. 

Source: GAO analysis of information from the Advisory Committee on Heritable Disorders in Newborns and Children, the American College of Medical Genetics, and March of Dimes. | GAO-17-196

Notes: The Department of Health and Human Services’ (HHS) Advisory Committee on Heritable 

Disorders in Newborns and Children established the RUSP, which is a list of conditions for which 

newborns should be screened. Nearly all of the conditions on the RUSP are heritable conditions. 

According to officials from HHS’s Health Resources and Services Administration, three conditions—

critical congenital heart disease, hearing loss, and primary congenital hyperthyroidism—are not 

strictly considered heritable conditions.

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.

a

Newborn screening for critical congenital heart disease and hearing loss are performed using pointof-care tests instead of the blood specimen testing used for other conditions.
Appendix III: Comments from the Department 

of Health & Human Services

Page 46 GAO-17-196 Newborn Screening Timeliness

Appendix III: Comments from the 

Department of Health & Human Services
Appendix III: Comments from the Department 

of Health & Human Services

Page 47 GAO-17-196 Newborn Screening Timeliness
Appendix IV: GAO Contact and Staff 

Acknowledgments

Page 48 GAO-17-196 Newborn Screening Timeliness

Marcia Crosse, (202) 512-7114 or crossem@gao.gov

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.

Appendix IV: GAO Contact and Staff 

Acknowledgments

GAO Contact

Staff 

Acknowledgements

(100570)
The Government Accountability Office, the audit, evaluation, and investigative 

arm of Congress, exists to support Congress in meeting its constitutional 

responsibilities and to help improve the performance and accountability of the 

federal government for the American people. GAO examines the use of public 

funds; evaluates federal programs and policies; and provides analyses, 

recommendations, and other assistance to help Congress make informed 

oversight, policy, and funding decisions. GAO’s commitment to good government 

is reflected in its core values of accountability, integrity, and reliability.

The fastest and easiest way to obtain copies of GAO documents at no cost is 

through GAO’s website (http://www.gao.gov). Each weekday afternoon, GAO 

posts on its website newly released reports, testimony, and correspondence. To 

have GAO e-mail you a list of newly posted products, go to http://www.gao.gov

and select “E-mail Updates.”

The price of each GAO publication reflects GAO’s actual cost of production and 

distribution and depends on the number of pages in the publication and whether 

the publication is printed in color or black and white. Pricing and ordering 

information is posted on GAO’s website, http://www.gao.gov/ordering.htm. 

Place orders by calling (202) 512-6000, toll free (866) 801-7077, or 

TDD (202) 512-2537.

Orders may be paid for using American Express, Discover Card, MasterCard, 

Visa, check, or money order. Call for additional information.

Connect with GAO on Facebook, Flickr, Twitter, and YouTube.

Subscribe to our RSS Feeds or E-mail Updates. Listen to our Podcasts.

Visit GAO on the web at www.gao.gov.

Contact:

Website: http://www.gao.gov/fraudnet/fraudnet.htm

E-mail: fraudnet@gao.gov

Automated answering system: (800) 424-5454 or (202) 512-7470

Katherine Siggerud, Managing Director, siggerudk@gao.gov, (202) 512-4400, 

U.S. Government Accountability Office, 441 G Street NW, Room 7125, 

Washington, DC 20548

Chuck Young, Managing Director, youngc1@gao.gov, (202) 512-4800

U.S. Government Accountability Office, 441 G Street NW, Room 7149 

Washington, DC 20548

James-Christian Blockwood, Managing Director, spel@gao.gov, (202) 512-4707

U.S. Government Accountability Office, 441 G Street NW, Room 7814, 

Washington, DC 20548

GAO’s Mission

Obtaining Copies of 

GAO Reports and 

Testimony

Order by Phone

Connect with GAO

To Report Fraud, 

Waste, and Abuse in 

Federal Programs

Congressional 

Relations

Public Affairs

Strategic Planning and 

External Liaison

Please Print on Recycled Paper.