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

Abstract

SCID fulfills criteria for a condition that should be included in routine newborn screening. Data presented from multiple newborn screening programs in the United States and Europe have shown that high throughput screening of all newborns is cost-effective. Screening improves early detection of this life-threatening condition and follow-up studies have shown a clear improvement in survival for early treatment.

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).…”

Societal value of newborn screening for severe combined immune deficiency in Arkansas: An economic analysis

“…Evidence presented in this review concerning universal screening for SCID includes clinical arguments to support the timely treatment and cure of an otherwise fatal condition (Gaspar et al, ; Kobrynski, ). Gaspar et al () suggested that the incidence of SCID may be higher than originally believed; previously, the deaths of infants who had SCID may have been attributed to the opportunistic infections and not recognized or diagnosed as a genetic disorder.…”

“…Severe combined immune deficiency (SCID) is a primary immune deficiency found in the absence of functioning T and B lymphocytes (Kobrynski, ). Without treatment, the condition is fatal in the first 2 years of life due to severe viral, bacterial, fungal, and opportunistic infections.…”

“…Hematopoietic cell transplantation within the first 42 months of life is a potentially curative treatment with greatly improved long‐term outcomes (Bonilla, ; Gaspar, Hammarstrom, Mahlaoui, Borte, & Borte, ; Kwan et al, ). Survival rates for patients transplanted after 42 months, however, dramatically decrease (Clement et al, ; Kobrynski, ). SCID was added to the recommended uniform newborn screening panel in 2010, and 49 US states, the District of Columbia, Guam, and Puerto Rico currently screen for the condition.…”

Managing Newborn Screening for SCID in a Referral Centre

“…Yet, major limitations have been noted with the expansion of experience. Certain types of phenotypical SCID, such as Zap70 deficiency, can evade detection and most cases of non-SCID profound combined immunodeficiencies (CID) are not identified by this approach (Kobrynski 2015). Further, the test cannot discriminate between SCID and a variety of other conditions such as prematurity and maternal/ infant exposure to certain medications.…”