State, Federal Efforts Under Way to Identify Children With “Bubble Boy Syndrome”

Kuehn, Bridget M.

doi:10.1001/jama.2010.1485

Cited by 6 publications

(2 citation statements)

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“…An unpublished study from the United Kingdom estimated average treatment costs with and without NBS at approximately $120 000 and $1.2 million, respectively. 32 Another modeling study assumed a cost of $2 million per infant without NBS 30 based on an unpublished estimate from Wisconsin of the hospital bill for one child 55 ; the cost may have been <$700 000. Kubiak et al 31 reported mean charges for 25 infants treated at 3 referral hospitals of $1.43 million for infants treated ≤3.5 months and $365 785 for those treated <3.5 months.…”

Section: Discussionmentioning

confidence: 99%

Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State

Ding

Thompson

Kobrynski

et al. 2016

The Journal of Pediatrics

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Objective To evaluate the expected cost-effectiveness and net benefit of the recent implementation of newborn screening (NBS) for severe combined immunodeficiency (SCID) in Washington State. Study design We constructed a decision analysis model to estimate the costs and benefits of NBS in an annual birth cohort of 86 600 infants based on projections of avoided infant deaths. Point estimates and ranges for input variables, including the birth prevalence of SCID, proportion detected asymptomatically without screening through family history, screening test characteristics, survival rates, and costs of screening, diagnosis, and treatment were derived from published estimates, expert opinion, and the Washington NBS program. We estimated treatment costs stratified by age of identification and SCID type (with or without adenosine deaminase deficiency). Economic benefit was estimated using values of $4.2 and $9.0 million per death averted. We performed sensitivity analyses to evaluate the influence of key variables on the incremental cost-effectiveness ratio (ICER) of net direct cost per life-year saved. Results Our model predicts an additional 1.19 newborn infants with SCID detected preclinically through screening, in addition to those who would have been detected early through family history, and 0.40 deaths averted annually. Our base-case model suggests an ICER of $35 311 per life-year saved, and a benefit-cost ratio of either 5.31 or 2.71. Sensitivity analyses found ICER values <$100 000 and positive net benefit for plausible assumptions on all variables. Conclusions Our model suggests that NBS for SCID in Washington is likely to be cost-effective and to show positive net economic benefit.

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Section: Discussionmentioning

confidence: 99%

Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State

Ding

Thompson

Kobrynski

et al. 2016

The Journal of Pediatrics

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“…In 2010, SCID was judged to meet the criteria for inclusion in the nationally recommended uniform newborn screening panel in the U.S. [23]. With compelling evidence from pilot studies and population-based data from states such as Wisconsin, Massachusetts and the Navajo Nation [21, 24–26, J. Puck, unpublished data], several states have initiated TREC screening of all newborns.…”

Section: Introductionmentioning

confidence: 99%

Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples

Punwani

González-Espinosa

Comeau

et al. 2012

Molecular Genetics and Metabolism

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T cell receptor excision circles (TRECs) are circular DNA molecules formed during rearrangement of the T cell receptor (TCR) genes during lymphocyte development. Copy number of the junctional portion of the δRec-ψJα TREC, assessed by quantitative PCR (qPCR) using DNA from dried blood spots (DBS), is a biomarker for newly formed T cells and absent or low numbers of TRECs indicate SCID (severe combined immunodeficiency) or T lymphocytopenia. No quantitation standard for TRECs exists. To permit comparison of TREC qPCR results with a reliable method for counting TRECs across different laboratories, we sought to construct a stable cell line containing a normal human chromosomal constitution and a single copy of the TREC junction sequence. A human EBV (Epstein Barr virus) transformed B cell line was transduced with a lentivirus encoding mCherry fluorescence, puromycin resistance and the δRec-ψJα TREC sequence. A TREC-EBV cell line, with each cell carrying a single lentiviral insertion was established, expanded and shown to have one TREC copy per diploid genome. Graded numbers of TREC-EBV cells added to aliquots of T lymphocyte depleted blood showed TREC copy number proportional to TREC-EBV cell number. TREC-EBV cells, therefore, constitute a reproducible cellular calibrator for TREC assays, useful for both population-based screening for severe combined immunodeficiency and evaluation of naïve T cell production in clinical settings.

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An analysis and decision tool to measure cost benefit of newborn screening for severe combined immunodeficiency (SCID) and related T-cell lymphopenia

2014

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Severe combined immunodeficiency (SCID) is a group of syndromes resulting from genetic defects causing absence in T-cell and B-cell function, leading to serious and life-threatening infections. SCID is often fatal in the first 2 years of life if not identified and properly treated. While additional laboratory methods are being developed, the current T-cell receptor excision circle assay has proven to have outstanding specificity and sensitivity to accurately identify infants with SCID and other T-cell lymphopenia. The Jeffrey Modell Foundation (JMF) has a long history of advocacy and continues to promote newborn screening for SCID to be implemented in the United States and worldwide. Based on reports provided by California, New York, Texas, and Wisconsin on the results of their population based newborn screening programs, the overall incidence of SCID averaged 1:33,000 and T-cell lymphopenia averaged 1:6,600. JMF has developed a working algorithm or "decision tree", validated by peer-reviewed scientific literature, to be used by Public Health Departments and Health Ministries in states, countries, and regions throughout the world. This decision tool allows for local or regional data to be applied to measure the threshold and economic impact of implementing newborn screening for SCID and T-cell lymphopenia.

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State, Federal Efforts Under Way to Identify Children With “Bubble Boy Syndrome”

Cited by 6 publications

References 0 publications

Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State

Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State

Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples

An analysis and decision tool to measure cost benefit of newborn screening for severe combined immunodeficiency (SCID) and related T-cell lymphopenia

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