Improving Disease Detection in Newborns
Newborn screening identifies conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential. CDC provides funding and expertise to state public health laboratories who conduct newborn screening. This funding can improve the detection of newborn conditions. The funding allows states to purchase specialized equipment and train staff so they can screen for more conditions and apply new technologies.
Building Capacity in State Public Health Laboratories
CDC’s Newborn Screening and Molecular Biology Branch in the Division of Laboratory Sciences funds pilot projects and cooperative agreements. Funded programs receive focused consultation, testing materials, training, and technical assistance.
In addition, CDC activities in support of all newborn screening programs — funded and not funded — include the following:
- Facilitating communication across newborn screening programs
- Assisting in designing, developing, and evaluating laboratory methods and training for newborn screening programs
- Improving the quality of existing and emerging newborn screening laboratory methods
- Providing technical expertise and technology transfer for new methods
- Offering quality assurance materials through the Newborn Screening Quality Assurance Program
- Supporting harmonization of newborn screening laboratory data across laboratories using CDC quality control reference materials
- Aiding in the development of training materials on laboratory methods, evaluations, risk communication, and other topics for state public health newborn screening programs
Funded State Newborn Screening Programs
The map below shows CDC’s current and previous award recipients. Learn about funded state programs below.
Enhancing Disease Detection in Newborns: Building Capacity in Public Health Laboratories
CDC is supporting its second funding cycle of “Enhancing Disease Detection in Newborns: Building Capacity in Public Health Laboratories.” Under these funding opportunities, states adopted one or more of three strategies to build capacity and enhance public health newborn screening:
- Build newborn screening laboratory capacity to screen for new Recommended Uniform Screening Panel (RUSP) conditions: Pompe Disease, Mucopolysaccharidosis Type 1 (MPS-1), X-linked Adrenoleukodystrophy (X-ALD), and Spinal Muscular Atrophy (SMA).
- Enhance newborn screening performance on dried blood spots to improve disease detection for current RUSP conditions.
- Improve state laboratories’ ability to interpret newborn screening test results on dried blood spots by increasing the use of computer science to manage and analyze complex data.
Award Period: 2022-2024
Five states are receiving funding under the current cooperative agreement. For information about funding activities by state, see below.
Arizona will increase the laboratory capacity to screen for two lysosomal storage disorders, Pompe Disease and Mucopolysaccharidosis Type-1 (MPS-1). The project will add first- and second-tier laboratory methods that will be used to detect Pompe Disease and MPS-1 and provide education for clinicians who will diagnose and treat referred newborns upon the addition of new conditions to the newborn screening panel.
Nevada will implement newborn screening tests for Spinal Muscular Atrophy (SMA) and X-linked Adrenoleukodystrophy (X-ALD). The program will also improve the turn-around-time to confirm screening results for cystic fibrosis. The program will establish a statewide education program for all stakeholders, healthcare providers, and the public; and evaluate the screening system process by the collection of short-term and long-term outcome data from specialists and primary care providers.
Texas plans to improve second- and third-tier method development and validation, and work with its Clinical Care Coordination staff to enhance follow-up algorithms. The program will expand the bioinformatic environment to analyze genomic data, improving timeliness and accuracy of screening results. These activities will enable the state to move ahead with implementing Pompe Disease and Mucopolysaccharidosis Type I (MPSI) in Texas.
The project will improve laboratory methods and workflows for molecular newborn screening analyses. The primary outcomes will include upgrades to their instrumentation, expanding the Laboratory Information Management System (LIMS), and adding cloud computing. These improvements will enhance bioinformatics analyses and data storage, and the development of a genomic module in the LIMS. The project will improve both the second- and third-tier testing which will allow Utah to use the genomic data analysis module within LIMS, store and display genomic variant results, generate NBS genomic variant reports, and send out electronic reports electronically clinical specialists.
Wisconsin will add X-linked adrenoleukodystrophy (X-ALD) to its newborn screening panel. Wisconsin will also build laboratory capability by improving the tandem mass spectrometry (MS/MS) NBS testing efficiency and performance through multiplexing and two-tier testing algorithm. Under the funding opportunity, the program will re-structure and update their current MS/MS NBS testing process to integrate X-ALD into their workflow and enhance overall MS/MS NBS testing.
Award Period: 2020-2022
Five states received funding under the previous funding opportunity. For information about funding activities by state, see below.
The Newborn Screening program implemented universal screening for Spinal Muscular Atrophy (SMA). Iowa conducts SMA screening for North Dakota and South Dakota.
New York’s program added secondary testing for 17 conditions to enhance screening and reduce the number of newborn babies needing referral for further testing and diagnosis. The program added second-tier biochemical testing for six conditions:
- Congenital adrenal hyperplasia (CAH)
- Mucopolysaccharidosis type I (MPS-I)
- Isovaleric acidemia
- Propionic acidemia
- Methylmalonic acidemia
- Cobalamin C/D deficiency
The state public health laboratory decreased the turnaround time to report positive screens for newborn screening disorders. In addition, they implemented second-tier testing for the lysosomal storage disorders, Pompe Disease, and Mucopolysaccharidosis type I (MPS-I).
North Carolina added Pompe Disease, X-linked Adrenoleukodystrophy (X-ALD), Mucopolysaccharidosis type I (MPS-I), and Spinal Muscular Atrophy (SMA). Second-tier testing for Pompe, X-ALD and MPS-I will be conducted in-house.
The Texas newborn screening program enhanced detection of congenital hypothyroidism (CH) through equipment and screening algorithm upgrades and clinical follow-up for system quality improvement.
Newborn Screening New Condition Implementation: Capacity Building and Quality Improvement through Data Harmonization (RFA-EH-18-1804)
Award Period: 2018-2020
CDC funded seven newborn screening laboratories to add the following conditions recommended by the Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children (HHS ACHDNC):
- Pompe Disease
- Mucopolysaccharidosis Type 1
- X-linked Adrenoleukodystrophy
- Spinal Muscular Atrophy
These awards increased the number of laboratory scientists with knowledge and skills to perform newborn screening for new conditions. In addition, the awards increased the number of newborns screened for conditions and added data harmonization to newborn screening quality improvement. Harmonization gathers data in different formats and naming conventions and transforms them into a cohesive data set that newborn screening laboratories can use to evaluate their testing performance.
For more information about how states used awarded funds and state-specific accomplishments, see below.
The Colorado Newborn Screening (NBS) laboratory implemented statewide screening of Spinal Muscular Atrophy (SMA) simultaneously with the Severe Combined Immunodeficiency (SCID) disorder screen. As of 2020, plans are underway to add three more new conditions: Pompe disease, Mucopolysaccharidosis type I (MPS-I), and X-linked Adrenoleukodystrophy (X-ALD).
The Kansas Newborn Screening (NBS) program added Spinal Muscular Atrophy (SMA) in combination with the existing newborn screening test for Severe Combined Immunodeficiency (SCID). They began the process to add Pompe disease and Mucopolysaccharidosis type I (MPS-I), which were implemented after the funding period ended.
The newborn screening program at the University of Massachusetts Medical School added Pompe disease, Mucopolysaccharidosis type I (MPS-I) and X-linked Adrenoleukodystrophy (X-ALD) to its state screening panel for newborns in Massachusetts and Rhode Island. As part of the Spinal Muscular Atrophy (SMA) screen, the program developed a quality control assay to evaluate the SMA screening algorithm and a method to evaluate the number of copies of the SMN2 gene, and to help determine the severity of SMA in babies that test positive. In addition, the program developed, validated, and implemented a third-tier assay for SMA to improve detection.
As a screening laboratory for the New England region, Massachusetts worked with New Hampshire to implement SMA and with Rhode Island and Vermont to strengthen follow-up protocols for Pompe disease, MPS-I, X-ALD, and SMA.
New York State Department of Health implemented and validated Spinal Muscular Atrophy (SMA) in combination with the existing Severe Combined Immunodeficiency (SCID) screen. The program designed a custom next-generation sequencing (NGS) panel for Pompe disease and X-linked Adrenoleukodystrophy (X-ALD). New York began to implement a liquid chromatography tandem mass spectrometry (MS/MS) test to detect the Mucopolysaccharidosis type I (MPS-I) analyte, glycosaminoglycan (GAG). The program began testing a second-tier analysis of the creatine/creatinine analyte to improve testing quality for Pompe disease.
Additionally, the state led a multi-state data harmonization project for X-ALD.
The Newborn Screening (NBS) program at Tennessee Department of Health implemented Spinal Muscular Atrophy (SMA) in combination with the existing Severe Combined Immunodeficiency (SCID) screen.
Tennessee’s program led a multi-state data harmonization project for lysosomal storage disorders to improve data quality and interpretation.
The Texas Department of State Health Services (TX DSHS) implemented statewide newborn screening for X-linked Adrenoleukodystrophy (X-ALD). The NBS program trained staff on first-, second-, and third-tier X-ALD testing and molecular methods, and educated healthcare providers on screening for X-ALD.
Utah’s program added X-linked Adrenoleukodystrophy (X-ALD) to its state newborn screening panel. In addition to implementing the tandem mass spectrometry (MS/MS) screening test for X-ALD, Utah also developed methods for second- and third tier testing to enhance detection.
Funding for Severe Combined Immunodeficiency (SCID) Implementation
Award Period: 2008-2017
Over a 10-year period, CDC supported laboratory method development and pilot studies to establish the feasibility of a severe combined immunodeficiency (SCID) newborn screening test in a state public health laboratory. Babies born with SCID appear healthy at birth but are unable to fight infection. If SCID is diagnosed early in life, before the onset of infection, a bone marrow transplant can successfully treat the disorder. The success of the pilot studies ensured that SCID screening tests were ready for nationwide use. It also served as a model for other states to implement population-based screening and provided evidence to support the addition of SCID to the RUSP. CDC provided funding to states to help them add SCID to their state newborn screening panels. Awardees included the following states:
- Florida, Illinois, New Jersey, North Carolina, Texas (2017)
- Louisiana, Nevada, and North Carolina (2015)
- Georgia, Virginia, and Oklahoma (2013)
- Michigan and Minnesota (2011)
- Wisconsin and Massachusetts (2008)
In 2015, CDC funded New York to develop advanced laboratory screening techniques and quality assurance materials that improved the detection of SCID.