Implementing routine testing for severe combined immunodeficiency within Wisconsin's newborn screening program.

Severe combined immunodeficiency (SCID) is the result of genetic defects that impair normal T-cell development. SCID babies typically appear normal at birth, but acquire multiple life-threatening infections within a few months. Early diagnosis and treatment with a bone-marrow transplant markedly improves long-term outcomes.

Statewide newborn screening for severe T-cell lymphopenia.

Context: A newborn blood screening (NBS) test that could identify infants with a profound deficiency of T cells may result in a reduction in mortality.

Objective: To determine if quantitating T-cell receptor excision circles (TRECs) using real-time quantitative polymerase chain reaction on DNA extracted from dried blood spots on NBS cards can detect infants with T-cell lymphopenia in a statewide program.

Design, Setting, And Participants: Between January 1 and December 31, 2008, the Wisconsin State Laboratory of Hygiene screened all infants born in Wisconsin for T-cell lymphopenia by quantitating the number of TRECs contained in a 3.

Regulatory compliance for point-of-care testing: 2009 United States perspective.

All clinical laboratory testing in the United States is regulated by the Clinical Laboratory Improvement Amendments of 1988 (CLIA'88 or CLIA) and overseen by the Centers for Medicare and Medicaid Services. CLIA profoundly changed the prevailing United States regulatory philosophy by imposing uniform requirements for all clinical laboratory testing regardless of where tests are performed. In the hospital, regulatory compliance is usually ensured by regular inspections of the laboratory by either the Joint Commission or by the College of American Pathologists.

Development of a routine newborn screening protocol for severe combined immunodeficiency.

Background: Severe combined immunodeficiency (SCID) is characterized by the absence of functional T cells and B cells. Without early diagnosis and treatment, infants with SCID die from severe infections within the first year of life.

Objective: To determined the feasibility of detecting SCID in newborns by quantitating T-cell receptor excision circles (TRECs) from dried blood spots (DBSs) on newborn screening (NBS) cards.

Point-of-care testing, medical error, and patient safety: a 2007 assessment.

Point-of-care testing (POCT) is the fastest growing segment of a US$30 billion worldwide market. "Errors" in the testing process, as well as medical data interpretation and treatment associated with POCT, are recognized as leading to major compromises of patient safety. In today's environment, most testing errors (pre-analytical, analytical and post-analytical) can be virtually eliminated by proper design of testing systems.

Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing.

Objective: To describe the development and follow-up confirmatory results of the routine cystic fibrosis (CF) newborn screening (NBS) program in Wisconsin.

Methods: CF NBS has been performed on a routine clinical basis in Wisconsin since July 1994. The 2-tiered immunoreactive trypsinogen (IRT)/DNA technique was used on dried blood on filter paper spots.

Evidence on improved outcomes with early diagnosis of cystic fibrosis through neonatal screening: enough is enough!

Objective: To generate and examine evidence in support of diagnosing cystic fibrosis (CF) early through newborn screening (NBS).

Study Design: Using a randomized controlled trial with unique unblinding/surveillance, we evaluated patients with CF receiving similar treatment after assignment to an early diagnosis (screened) group or to a control group. Outcomes studied at diagnosis and longitudinally included measures of nutritional status and lung disease.

Polybrominated diphenyl ethers (PBDEs): new pollutants-old diseases.

Polybrominated diphenyl ethers (PBDEs) are a class of recalcitrant and bioaccumulative halogenated compounds that have emerged as a major environmental pollutant. PBDEs are used as a flame-retardant and are found in consumer goods such as electrical equipment, construction materials, coatings, textiles and polyurethane foam (furniture padding). Similar in structure to polychlorinated biphenyls (PCBs), PBDEs resist degradation in the environment.

Multiplexed genetic analysis using an expanded genetic alphabet.

Background: All states require some kind of testing for newborns, but the policies are far from standardized. In some states, newborn screening may include genetic tests for a wide range of targets, but the costs and complexities of the newer genetic tests inhibit expansion of newborn screening. We describe the development and technical evaluation of a multiplex platform that may foster increased newborn genetic screening.

Has compliance with CLIA requirements really improved quality in US clinical laboratories?

Background: The Clinical Laboratory Improvement Amendments of 1988 (CLIA'88) mandate universal requirements for all U.S. clinical laboratory-testing sites.

Screening newborns for congenital disorders.

The Newborn Screening Laboratory at the Wisconsin State Laboratory of Hygiene (WSLH) tests all newborn babies in the state of Wisconsin for 26 congenital disorders. The screening is mandated by state statute (253.13) and attempts to identify those babies at highest risk for any of the screened-for congenital disorders.

Analysis of the costs of diagnosing cystic fibrosis with a newborn screening program.

Objectives: To compare the cost of diagnosing cystic fibrosis (CF) through a newborn screening program with the traditional method and to estimate the cost of CF diagnosis if a national newborn screening program is implemented.

Study Design: Surveys were conducted to determine the annual number of sweat tests in 1991 and in 2000 after implementation of statewide screening. A national survey of sweat test costs was used to estimate the annual expense for diagnosing CF in the United States through newborn screening.

Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel.

Objective: To examine the cost-effectiveness of tandem mass spectrometry (MS/MS) in a neonatal screening panel for 14 fatty acid oxidation and organic acidemia disorders in the Wisconsin Newborn Screening Program.

Study Design: An incremental cost-effectiveness analysis with a hypothetical cohort of 100,000 infants was performed. A threshold of $50,000/QALY (quality-adjusted life-year) was used to determine whether screening for medium-chain acyl-CoA dehydrogenase deficiency (MCAD) alone is cost-effective or whether additional disorders would need to be incorporated into the analysis to arrive at a conclusion regarding the overall cost-effectiveness of MS/MS.