A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID)

Abstract

Objective To evaluate the cost-effectiveness of universal neonatal screening for T cell lymphocytopenia in enhancing quality of life and life expectancy for children with severe combined immunodeficiency (SCID). Methods Decision trees were created and analyzed to estimate the cost, life years, and quality adjusted life years (QALYs) across a population when universal screening for lack of T cells is used to detect SCID, as implemented in five states, compared to detection based on recognizing symptoms and signs of disease. Terminal values of each tree limb were derived through Markov models simulating the natural history of three cohorts: unaffected subjects; those-diagnosed with SCID as neonates (early diagnosis); and those diagnosed after becoming symptomatic and arousing clinical suspicion (late diagnosis). Models considered the costs of screening and of care including hematopoietic cell transplantation for affected individuals. Key decision variables were derived from the literature and from a survey of families with children affected by SCID, which was used to describe the clinical history and healthcare utilization for affected subjects. Sensitivity analyses were conducted to explore the influence of these decision variables. Results Over a 70 year time horizon, the average cost per infant was $8.89 without screening and $14.33 with universal screening. The model predicted that universal screening in the U.S. would cost approximately $22.4 million/year with a gain of 880 life years and 802 QALYs. Sensitivity analyses showed that screening test specificity and disease incidence were critical driving forces affecting the incremental cost-effectiveness ratio (ICER). Assuming a SCID incidence of 1/75,000 births and test specificity and sensitivity each at 0.99, screening remained cost-effective up to a maximum cost of $15 per infant screened. Conclusion At our current estimated screening cost of $4.22/infant, universal screening for SCID would be a cost effective means to improve quality and duration of life for children with SCID.

Primer estudio piloto en España sobre el cribado neonatal de las inmunodeficiencias primarias: TRECS y KRECS identifican linfopenias T y B graves

“…En España, no existe un cribado neonatal para enfermedades del sistema inmunitario potencialmente letales, aunque se ha demostrado que estas patologías cumplen con los requisitos adaptados de Wilson y Jungner, que determinan la adecuación de incluir patologías en un cribado poblacional: alta morbimortalidad, intervalo asintomático inicial, disponibilidad de una metodología accesible y poco invasiva, beneficio de diagnóstico precoz, existencia de tratamientos curativos o eficaces y, finalmente, un análisis coste-beneficio favorable [17][18][19] .…”

Newborn screening for severe combined immune deficiency (technical and political aspects)

“…The sensitivity of this assay is estimated to be 99.5% [29] with a specificity of 99.98% [33]. TREC qPCR is sensitive, specific, and suitable for use in a high throughput laboratory.…”

Consanguinity and Primary Immunodeficiencies

“…T lymphocyte deficiencies such as severe CID can be detected using the T cell receptor excision circle (TREC) as- say, while kappa-deleting recombination excision circles (KREC) can detect abnormalities in B cell development in primary B cell immunodeficiencies [54] . Both tests were found to be cost effective and sensitive [55,56] . Hence, their implementation in countries with a high frequency of PIDs is crucial and will remarkably improve long-term survival and decrease mortality for these disorders.…”