Newborn Screening - Use of NBS Blood Spots after Completion of Newborn Screening
Dried blood spots remaining after newborn screening has been completed are an essential part of quality assurance and quality control (QA/QC). QA/QC ensures that newborn screening tests are consistently producing accurate, reliable and repeatable results. In addition, completion of QA/QC is a requirement for federal certification of the DSHS Laboratory.
These “residual” dried blood spots are also an invaluable resource in improving the health of current and future children in Texas and beyond. Research using these dried blood spots could help with the development of improved screening tests for disorders in newborns as well as better treatments or cures.
DSHS Policy Regarding Use of Residual Dried Blood Spots
Consistent with changes to Texas state law in 2011 ( Texas Health & Safety Code Sec. 33.018), DSHS has adopted a strict policy ( CD2010.01) regarding allowable uses of residual newborn screening blood spots and associated data.
The purpose of the policy is to:
- Ensure requests for proposed uses of newborn screening (NBS) residual dried blood spots and/or associated data are processed under applicable law and reviewed as appropriate by DSHS management and/or the DSHS Institutional Review Board (IRB).
- Provide specific guidelines for the review process of all requests for NBS dried blood spots and/or associated data for QA/QC and/or research.
Quality Assurance & Quality Control Uses of NBS Blood Spots
The DSHS newborn screening quality assurance process ensures that the entire testing process is working right. A continual supply of residual blood spots that represent the diverse nature of the Texas population is needed to make sure that the tests produce accurate results in any Texas baby.
Quality control—a specific part of the quality assurance process—consists of steps to make sure that each final test result is accurate. Steps include reviewing each specimen for acceptability, ensuring chemicals and instruments are working correctly and ensuring that the results being reported to the healthcare provider are accurate.
All proposed QA/QC uses are reviewed by DSHS Management and/or the DSHS IRB to determine if the uses are appropriate, scientifically sound, and allowable under the policy.
Types of Quality Assurance and Quality Control (QA/QC) Uses
QA/QC to Maintain Standards for Laboratory Testing Established by the Federal Government
DSHS QA/QC for the Texas Newborn Screening Program
- Studies to make sure new tests, chemicals, and equipment meet standards set by the manufacturer
- Evaluations to make sure new test equipment or procedures are working correctly and are producing accurate test results
- Ongoing monitoring to make sure test systems continue to be accurate and reliable over time
- Evaluations to make sure all pieces of equipment used to run the same test give the same result
- Studies to see if different equipment or tests produce more accurate, the same, or less accurate results
CLIA-required specimen exchange
- De-identified* blood spots are sometimes sent to newborn screening laboratories in other states who are doing the same tests to make sure we are producing similar results
- De-identified* blood spots are sometimes shared with newborn screening laboratories in other states to help them validate a new test. For example, we could share samples from babies with severe combined immunodeficiency (SCID) with a state trying to add screening for SCID so they can make sure their test can accurately detect babies with SCID. (DSHS also receives de-identified blood spots from other state newborn screening laboratories when implementing new test methods.)
QA/QC to meet Food and Drug Administration (FDA) licensing requirements for manufacturing public health-related products
- Newborn Screening test kits, chemicals, and equipment
- De-identified* blood spots may be used to test whether new chemicals, equipment, or supplies for newborn screening work correctly and produce accurate results.
Chemicals and test kits for other medical conditions important to public health
- De-identified* blood spots may be used in the FDA-licensing process and for general public health related QA/QC.
* De-identified, as defined by the Newborn Screening Blood Spot and Data Use Policy (CD2010.01): Specimens or data that neither identify nor provide a reasonable basis to identify the child or the parents of the child from which the specimen was collected.
Public Health Research Uses of Newborn Screening Blood Spots
All proposed research uses are reviewed by DSHS Commissioner designees and by the DSHS IRB. The IRB is tasked with ensuring the protection of the safety, rights, and welfare of human participants involved in the project. If a project is approved, the requester may only use the blood spots and/or data in the way specified in the final IRB-approved project description.
Requests for Residual Newborn Screening Specimens or Associated Data
- If the request is for public health research or QA/QC:
- If you are a medical examiner or physician requesting release of residual dried blood spots for further testing:
List of Research Uses that have Been Allowed by DSHS
|Requestor||Title of Study||Purpose||Description of blood spots and/or data requested and approved||Date Approved|
|Asuragen||Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) assay development||To develop a Cystic Fibrosis screening and diagnostic test based on Polymerase Chain Reaction and Capillary Electrophoresis (PCR/CE) technology that accurately resolves different CFTR mutations.||37 de-identified blood spots that tested positive for Cystic Fibrosis and 30 de-identified blood spots that tested normal for Cystic Fibrosis.||12/30/2020|
|National Cancer Institute and Texas Department of State Health Services||T-cell receptor excision circles (TRECs) and risk of pediatric cancer||To assess the association between the levels of T-cell receptor excision circles (TREC) at birth and cancer risk.||1500 cases along with five controls per case. Unidentified data with TREC level, diagnosis of severe combined immunodeficiency (SCID) or any other immune conditions.||10/24/2020|
|Washington State University
Department of Pharmacotherapy
|Bloodspot GABA (4-aminobutyric acid) for identifying disorders of GABA metabolism||To develop a screening method to detect GABA (4-aminobutyric acid) in newborn dried blood spots||7000 de-identified blood spots||2/2/2018|
|Center for Applied Genomics, the Children's Hospital of Philadelphia||Testing DNA extraction protocol on external dried blood spot samples of neonates||To evaluate the quality and quantity of the DNA extracted from various dried blood spot collections and to improve upon the ability to positively impact our understanding of pediatric health and disease through genomics by developing and validating an automated protocol to efficiently extract DNA in large batches from dried blood spot collections.||20 de-identified blood spots and associate non-identifying demographic data||3/2/2017|
|PerkinElmer, Inc.||Multi-Center Evaluation of NeoLSD MSMS Kit 3093-001U||To demonstrate that the device performance is safe and effective when used for the stated intended use and that the use of this device will be beneficial for affected newborns by providing early identification of Lysosomal Storage Disorders (LSD).||De-identified analytical result data, date of specimen collection, birthweight, gender, and ethnicity for 55,000 specimens.||1/10/2017|
|Texas Department of State Health Services and University of New Mexico||
Feasibility of Estimating Prenatal Alcohol Exposure from Residual Newborn Screening Specimens
|To ascertain the feasibility of assessing PEth biomarker, as a measure of prenatal alcohol exposure, in residual dried blood spot cards.||1,100 de-identified blood spots and associated non-identifying demographic data||11/20/2014|
|PerkinElmer, Inc.||Study to Establish Screening Performance for EnLite Neonatal TREC Test System||To validate a new diagnostic method for newborn screening. The study results are needed to get permission to place the product on the market and made available for the newborn screening community in USA.||None - Request cancelled after approved.||3/28/2014|
|Texas Department of State Health Services and ARUP Laboratories||Evaluation and Implementation of Second-Tier Testing for Disorders Identified by MS/MS in Newborn Blood Spots in the Mountain States Region||To evaluate 1) the efficacy of performing second tier newborn screening tests for congenital adrenal hyperplasia and select metabolic disorders detected by tandem mass spectrometry and 2) the efficacy of establishing a regional laboratory to perform these second-tier tests.||342 De-identified blood spots||4/5/2010|
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