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

Abstract

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.

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 Immunodeficiency-A History of the TREC Assay

“…Optimization of the assay and development of screening algorithms have made NBS for SCID life-saving, while cost-benefit analysis has repeatedly illustrated the economic advantage of early diagnosis [1,[33][34][35][36]. As a result, as of January 2017, the TREC assay is being used to screen for T cell lymphopenias and SCID in all but one state in the US, the District of Columbia, and Puerto Rico (Figure 3).…”

A Practical Guide to Implementing Population Newborn Screening (NBS) for Severe Combined Immunodeficiency (SCID)

“…A cost-benefit decision tool showing the cost savings from screening and early intervention [4]. The systematic evidence review of Lipstein et al, 2010 [5].…”