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Potential costs and benefits of newborn screening for severe combined immunodeficiency
Sean A McGhee1, E Richard Stiehm, Edward R B McCabe
1Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, 90095-1752, USA. smcghee@mednet.ucla.edu
Insights
Newborn screening for severe combined immunodeficiency (SCID) is cost-effective. Implementing a SCID screening program can save lives, but requires an accurate and affordable diagnostic test.
Area of Science:
- Immunology
- Public Health
- Health Economics
Background:
- Severe combined immunodeficiency (SCID) is a rare but treatable immune system disorder.
- Underdiagnosis may occur due to early mortality from infection before diagnosis.
- SCID is a potential candidate for universal newborn screening programs.
Purpose of the Study:
- To determine the cost-effectiveness of universal newborn screening for SCID.
- To compare universal screening with targeted screening based on family history.
Main Methods:
- A cost-utility analysis was performed.
- The study compared universal SCID screening with screening only infants with a family history of SCID.
- T-cell lymphopenia was used as the screening criterion.
Main Results:
- A SCID screening test costing <$5 with a false-negative rate of 0.9% and false-positive rate of 0.4% is cost-effective at $50,000 per quality-adjusted life-year.
- A nationwide screening program would cost an additional $23.9 million annually.
- This program could save 760 years of life per year, with a cost of $485,000 per detected SCID case.
Conclusions:
- SCID screening offers substantial benefits to affected individuals.
- Screening is relatively cost-effective despite the low incidence of SCID.
- The development of an adequate screening test is crucial for cost-effectiveness.
Objective:
Severe combined immunodeficiency (SCID) is a rare, treatable disorder of the immune system. The incidence is unknown but may be more common than published estimates because infants frequently die of infection before diagnosis. SCID is a candidate for universal newborn screening, so there is a need to determine under which circumstances screening would be cost-effective.
Study Design:
We assumed a screening program for SCID would use T-cell lymphopenia as the screening criterion and performed a cost-utility analysis comparing universal screening with screening only those with a family history of SCID.
Results:
Assuming society is willing to pay $50,000 for every quality-adjusted life-year saved, a SCID screening test that cost less than $5 with a false-negative rate of 0.9% and a false-positive rate of 0.4% would be considered cost-effective. A nationwide screening program would cost an additional $23.9 million per year for screening costs but would result in 760 years of life saved per year of screening. The cost to detect 1 case of SCID would be $485,000.
Conclusion:
SCID screening could result in a large benefit to detected individuals, making screening relatively cost-effective in spite of the low incidence of the disease. However, an adequate test is critical to cost-effectiveness.
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