Texas Department of State Health Services - Use of Newborn Screening Blood Spots

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Use of Newborn Screening Blood Spots After Completion of Newborn Screening

Blood spot cards remaining after testing has been completed have many beneficial public health uses including public health-related research, and quality assurance and quality control (QA/QC) to make sure newborn screening tests produce accurate, reliable and repeatable results.

Newborn Screening Blood Spot and Data Use Policy effective August 6, 2010

On August 6, 2010, the Department of State Health Services (DSHS) adopted CD2010.01, a new policy regarding allowable uses of newborn screening blood spots and data. The purpose of the policy is to make sure appropriate DSHS management and/or Institutional Review Board review of requests occur. The policy provides specific guidelines for the review process of all requests for newborn screening blood spots or data for quality assurance/quality control (QA/QC) or research. As indicated in the policy, some requests require approval by the Commissioner of Health and the DSHS Institutional Review Board (IRB).

The DSHS IRB reviews proposed project requests, as required by DSHS policy, based on state law (Texas Health & Safety Code Sec. 33.017) and federal requirements (Code of Federal Regulations 45 CFR 46 et seq.), ensuring the safety, rights, and welfare of human participants involved in the project. If the project is approved, the requester may then receive and use the blood spots and/or data only in the way specified in the final IRB approved project description. All information that can identify a child is removed from the blood spot card and/or data, for these types of uses outside of DSHS, unless parents provide advance written consent.

Newborn Screening Quality Assurance and Quality Control

The newborn screening quality assurance plan includes many steps to monitor the laboratory screening processes and identify successful procedures as well as potential problems before they affect the test results. The plan includes monitoring the entire process, from the time the specimen is collected until the results are reported to the healthcare provider.

Quality control is a specific part of the quality assurance process, with steps to make sure that the final test result is correct. It includes making sure each specimen is acceptable for testing, that the instruments and chemicals work correctly, and that the results being reported to the healthcare provider are accurate.

Different Types of Quality Assurance and Quality Control(QA/QC)

QA/QC to maintain standards for laboratory testing established by the federal government [Federal Clinical Laboratory Improvement Amendments of 1988 (CLIA)]
- Department of State Health Services (DSHS) QA/QC for the Texas Newborn Screening Program
  - Studies to make sure new tests, chemicals, and instruments meet standards set by the manufacturer
  - Studies to make sure new test instruments 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
  - Studies to make sure all instruments running the same test give the same result
  - Studies to see if different instruments or tests give more accurate, the same, or less accurate results
- CLIA-required specimen exchange
  - Texas specimens are sent to newborn screening laboratories in other states who are doing the same tests to make sure we are producing similar results
  - Texas specimens are sometimes shared with newborn screening laboratories in other states to make sure their new test systems are able to identify babies who have the targeted medical condition. (DSHS also receives 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 instruments
- Blood spots with all patient information removed may be used to help develop test chemicals, test kits, and instruments for newborn screening. The tests developed through this process may be used to test Texas babies.
Chemicals and test kits for other medical conditions important to public health
- Blood spots with all patient information removed may be used in the FDA-licensing process and for general QA/QC. (E.g. HIV test kits used by DSHS in its HIV screening program)

Public Health Research Uses of Newborn Screening Blood Spots

The table below lists all research projects, as shown in DSHS records, where blood spots were released prior to adoption of CD2010.01 on August 6, 2010. The table also lists projects where blood spots were released, which required commissioner-level approval under CD2010.01.

Research Uses of Newborn Screening Blood Spots
Requestor	Title of Study	Purpose of Study	Number of Blood Spots Released for Study	Date of Release
DSHS 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.	245 de-identified blood spots (as of 3/24/11)	September 2010 through March 2011 (ongoing)
DSHS and University of Massachusetts	A pilot study for newborn screening of Severe Combined Immunodeficiency (SCID)	To evaluate, validate and implement pilot SCID newborn screening tests and algorithms for identification of infants with SCID.	979 de-identified blood spots (as of 4/25/11)	September 2010 through April 2011 (ongoing)
University of Minnesota	Feasibility of Retrospectively Obtaining Guthrie Spots (FROGS) Study	Assess the feasibility of obtaining newborn screening blood spots from childhood cancer cases on a nationwide basis.	2 identified blood spots (advance parental consent obtained)	February 2010
PerkinElmer Life and Analytical Sciences	Development of a biotinidase screening assay	Left untreated, biotinidase deficiency can result in seizures, hearing loss, and death in severe cases. The aim of this study was to develop a semi-quantitative assay to measure biotinidase levels.	20 de-identified blood spots	December 2008
Department of State Health Services	Assessing the role of prenatal lead exposure on infant blood lead levels	Lead is toxic to many organs and tissues in the human body and is particularly toxic to children, causing potentially permanent learning and behavior disorders and in severe cases may cause seizures, coma, and death. The study aimed to determine whether high blood lead levels in infants are associated with prenatal lead exposure from the mother.	251 identified blood spots (used for internal DSHS research)	December 2008
University of Texas Health Science Center at Houston	Candidate gene testing in nonsyndromic cleft lip and palate	Cleft lip and palate are birth defects that affect the upper lip and the roof of the mouth. They can cause failure to gain weight, feeding problems, poor growth, ear infections, and speech problems. The research sought to identify the specific genes causing nonsyndromic cleft lip and palate.	1376 de-identified blood spots	May 2008, October 2008, November 2008
University of California at Los Angeles, Department of Pediatrics	Development of a newborn screening test for severe combined immunodeficiency using ELISA and dried blood spots	Severe Combined Immunodeficiency (SCID) is a severe genetic disorder in which the immune system is severely disabled. Without treatment, babies affected with SCID typically die before one year of age due to recurrent infection. The goal of the study was to develop a newborn screening test to detect primary immunodeficiencies such as SCID.	397 de-identified blood spots	January 2008
Centers for Disease Control and Prevention	Development of a method to determine concentrations of polyfluoroalkyl compounds (PFC) in dried blood spots	PFCs have demonstrated developmental, reproductive, genotoxic, and carcinogenic effects in laboratory animal studies. In an effort to determine effects of PFCs on newborns, the study aimed to develop and validate a method for measuring PFC in blood spots as a method for determining perinatal exposure.	200 de-identified blood spots	September 2007
Texas A&M University	Feasibility of using stored Texas newborn screening dried blood spots (DBS) for childhood cancer epidemiological research	To assess the feasibility of using newborn screening blood spots for childhood cancer epidemiology studies and to determine the distribution of polymorphisms of the PON1 gene (a gene involved in the metabolism of organophosphate pesticides) in a sample of childhood cancer cases and non-cancer controls.	100 de-identified blood spots	July 2007
Baylor College of Medicine	Precursor study to identify genetic markers for selected cardiovascular birth defects	To determine the feasibility of using blood spots for genome wide association studies.	10 de-identified blood spots	May 2007
Centers for Disease Control and Prevention	Development of reference ranges for use in screening newborns for X-linked adrenoleukodystrophy	Children with X-linked adrenoleukodystrophy experience learning and behavioral problems by 10 years of age. The disease is degenerative and total disability within several years is not uncommon. The study goal was to determine normal newborn reference ranges for use in a new test to screen newborns for X-linked adrenoleukodystrophy.	300 de-identified blood spots	September 2006
University of Minnesota	Neonatal blood spot bank for childhood cancer studies	To establish a control database for studies of childhood cancer.	100 de-identified blood spots	March 2006
University of Texas Health Science Center at Houston	Association study of genetic study markers & Idiopathic Talipes Equinovarus (ITEV)	Research into hereditary causes of ITEV (club foot), following up on 'Pilot study of association study of genetic study markers & Idiopathic Talipes Equinovarus,' listed immediately above.	1548 de-identified blood spots	August 2007, May 2008, October 2008 and November 2008
University of Texas Health Science Center at Houston	Pilot study for association study of genetic study markers & Idiopathic Talipes Equinovarus (club foot)	To assess the feasibility of using newborn screening blood spots for Birth Defects research.	84 de-identified blood spots	May 2005
National Institutes of Health; University of California at San Francisco	Investigation of inherited immune disorders	Individuals with a severe immune disorder have frequent infections and subsequently, a reduced lifespan. The inherited disorders of the immune system were studied with the goal of developing a newborn screening test for severe immune disorders.	8 identified blood spots (advance parental consent obtained)	August 2004 through September 2007, as individual parental consent was received
Centers for Disease Control and Prevention	Technical evaluation of cytokine measurements in dried blood spots (2nd follow-up)	Second follow-up study to 'Technical evaluation of cytokine measurements in dried blood spots.' To determine if cytokine measurements in blood spots using refined MSA assays could be reproduced.	120 de-identified blood spots	July 2004
Centers for Disease Control and Prevention	Technical evaluation of cytokine measurements in dried blood spots (follow-up)	Follow-up study to 'Technical evaluation of cytokine measurements in dried blood spots.' To determine if refinements in assay methods improved cytokine measurements in blood spots using MSA assays.	100 de-identified blood spots	October 2003
Centers for Disease Control and Prevention	Technical evaluation of cytokine measurements in dried blood spots	Cytokines are critical to the development and function of an individual's immune response. The study goal was to determine if cytokine levels could be reliably measured in blood spots using microbead suspension array (MSA) assays.	220 de-identified blood spots	July 2003
Armed Forces Institute of Pathology	Enhancing the size, sampling, and quality of forensic mtDNA databases	To improve data used in forensic analyses.	600 de-identified blood spots	May 2007
Armed Forces Institute of Pathology	Precursor study to 'Enhancing the size, sampling, and quality of forensic mtDNA databases' (immediately following)	To assess genetic variation in mitochondrial DNA as preliminary groundwork for improving data used in forensic analyses.	200 de-identified blood spots	May 2003
PerkinElmer Life and Analytical Sciences	Preliminary development of immunoassay to identify hemoglobin variants	This was an effort to improve efficiencies of newborn screening methodologies. The goal was to assess the feasibility of creating an automated test to detect hemoglobin variants.	36 de-identified blood spots	March 2003
Centers for Disease Control and Prevention	Using newborn dried blood spots to assess the contribution of selected congenital infections (Cytomegalovirus (CMV), Lymphocytic Choriomeningitis Virus (LCMV), and Toxoplasmosis gondii) to the etiology of hydrocephalus	There is strong evidence that congenital infections cause birth defects. Hydrocephalus is a birth defect in which cerebrospinal fluid builds up inside the skull, typically requiring surgical treatment. The goal of this study was to determine the contribution of congenital infection with CMV, LCMV or Toxoplasmosis gondii to the occurence of hydrocephalus.	183 de-identified blood spots	January 2008
University of California at Los Angeles, Department of Pediatrics	Genetic variation in Glycerol Kinase and adjacent genes	Glycerol kinase is a key enzyme in the regulation of glycerol uptake and metabolism. The goal of the study was to identify mutations in the glycerol kinase gene and surrounding genes.	100 de-identified blood spots	May 2002
University of Texas MD Anderson Cancer Center	Role of genetic polymorphisms of glutathione S-transferases and related genes in the pediatric population	The glutathione S-transferase pi gene (GSTP1) is a gene thought to play a role in susceptibility to cancer and other diseases. The study aimed to establish the frequency of GSTP1 mutations in a normal pediatric population and to determine any correlations of the mutations with specific demographics.	1000 de-identified blood spots	March 2002
University of California at Los Angeles, Department of Pediatrics	Development of alternative mutation detection technologies for hemoglobinopathies	Hemoglobinopathies are inherited defects of the hemoglobin molecule that cause mild to acute anemia, among other symptoms. Sickle cell anemia is one of the most common and well known hemoglobinopathies. The goal was to develop a simple yet accurate technique using blood spots to detect known mutations causing hemoglobinopathies.	3 de-identified blood spots	February 2002
University of California at Los Angeles, Department of Pediatrics	Development of rapid and efficient PCR approach to detect common α°-thalassemia deletions in Southeast Asians and Filipinos in newborn screening specimens	Alpha-thalassemia can cause mild to severe anemia. Rapid identification and treatment are needed for survival in severe cases. The listed populations have an abnormally high incidence of alpha-thalassemia. The research involved developing a rapid test to identify common mutations.	97 de-identified blood spots	November 2001 and February 2002
Baylor College of Medicine	Population incidence of mitochondrial mutations associated with aminoglycoside-induced deafness	Aminoglycosides like streptomycin and gentamycin appear to generate free radicals within the inner ear, with subsequent permanent damage to sensory cells and neurons, resulting in permanent hearing loss. The study aimed to determine the frequency of two mutations that are associated with aminoglycoside-induced damage to the ear.	1173 de-identified blood spots	March 2001 and July

Contact Us

If you have questions regarding the DSHS Newborn Screening Laboratory:

Contact:

Texas Department of State Health Services
Newborn Screening Laboratory, MC 1947
PO Box 149347
Austin, TX 78714-9347

(512) 458-7333
(888) 963-7111, ext. 7333 toll free
email Newborn Screening Laboratory

Note: External links to other sites are intended to be informational and do not have the endorsement of the Texas Department of State Health Services. These sites may not be accessible to people with disabilities

Newborn Screening - Use of NBS Blood Spots After Completion of Newborn Screening