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Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results

Caroline Thomas1, Isabelle Durand-Zaleski2, Jérôme Frenkiel2

  • 1Service d'oncologie-hématologie et immunologie pédiatrique, CHU Nantes, Nantes, France.

Clinical Immunology (Orlando, Fla.)
|April 5, 2019
PubMed

Insights

Newborn screening for Severe Combined Immunodeficiency (SCID) using T-cell receptor excision circles (TRECs) is feasible and effective. This method aids in early diagnosis and treatment, potentially preventing infant mortality from SCID.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Severe Combined Immunodeficiency (SCID) comprises genetic disorders severely impairing cellular and humoral immunity.
  • Infants with SCID are vulnerable to fatal infections within months if untreated.
  • Quantification of T-cell receptor excision circles (TRECs) is a sensitive screening method for SCID.

Purpose of the Study:

  • To evaluate the feasibility, economic, and clinical utility of nationwide newborn screening for SCID in France.
  • To assess the effectiveness of TREC quantification for detecting severe T-cell lymphopenia.

Main Methods:

  • A nationwide newborn screening program for SCID was implemented, analyzing TRECs on Guthrie cards.
  • The study compared 190,517 screened infants with a control group of 1.4 million infants diagnosed without screening.
  • Data on lymphopenia, SCID diagnoses, and costs were collected and analyzed.

Main Results:

  • The screening identified 62 lymphopenic infants, including three with SCID.
  • The cost per newborn screening ranged from €4.7 to €8.15.
  • The average 18-month cost for screened infants was higher than for the control group, though the difference was not fully ascertainable.

Conclusions:

  • Routine newborn screening for SCID is demonstrated to be feasible and effective in a large-scale study.
  • SCID screening aids in diagnosing non-SCID lymphopenia and can prevent SCID-related deaths before treatment.
  • Economic evaluation provides cost-per-test data for implementing nationwide screening programs.
Abstract

Keywords:
Clinical resultsEconomicsNewborn screeningSCIDTREC quantification

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