title: Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data.
abstract: BACKGROUND
  The inclusion of severe combined immunodeficiency (SCID) in a Europe-wide screening program is currently debated.
  
  
  OBJECTIVE
  In making a case for inclusion in the French newborn screening program, we explored the costs incurred and potentially saved by early management of SCID.
  
  
  METHODS
  For test costs, a microcosting study documented the resources used in a laboratory piloting a newborn screening test on Guthrie cards using the T-cell receptor excision circle quantification method. For treatment costs, patients with SCID admitted to the national reference center for primary immunodeficiency in France between 2006 and 2010 were included. Costs of admission were estimated from actual national production costs. We estimated the costs for patients who underwent early versus delayed hematopoietic stem cell transplantation (HSCT; age, ≤3 vs. >3 months, respectively).
  
  
  RESULTS
  The unit cost of the test varied between €4.69 and €6.79 for 33,800 samples per year, depending on equipment use and saturation. Of the 30 patients included, 27 underwent HSCT after age 3 months. At 1 year after HSCT, 10 of these had died, and all 3 patients undergoing early transplantation survived. The medical costs for HSCT after 3 months were €195,776 (interquartile range, €165,884-€257,160) versus €86,179 (range, €59,014-€272,577) when performed before 3 months of age. In patients undergoing late transplantation, active infection contributed to high cost and poor outcome.
  
  
  CONCLUSIONS
  Early detection of SCID could reduce the cost of treatment by €50,000-100,000 per case. Assuming a €5 unit cost per test, the incidence required to break even is 1:20,000; however, if the survival advantage of HSCT before 3 months is confirmed, universal screening is likely to be cost-effective.
authors.affiliation: URC Eco (Clinical Research Unit in Health Economics), Assistance Publique-Hôpitaux de Paris, Hôtel Dieu Hospital, Paris, France.
authors.forename: Marie Caroline
authors.initials: MC
authors.lastname: Clément
authors.affiliation: Pediatric Hematology-Immunology and Rheumatology Unit, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades University Hospital, Paris, France; CEREDIH (French National Reference Center for Primary Immune Deficiencies), Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades University Hospital, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France.
authors.forename: Nizar
authors.initials: N
authors.lastname: Mahlaoui
authors.affiliation: CEREDIH (French National Reference Center for Primary Immune Deficiencies), Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades University Hospital, Paris, France.
authors.forename: Cécile
authors.initials: C
authors.lastname: Mignot
authors.affiliation: Medical information unit, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades University Hospital, Paris, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Le Bihan
authors.affiliation: URC Eco (Clinical Research Unit in Health Economics), Assistance Publique-Hôpitaux de Paris, Hôtel Dieu Hospital, Paris, France.
authors.forename: Hasina
authors.initials: H
authors.lastname: Rabetrano
authors.affiliation: URC Eco (Clinical Research Unit in Health Economics), Assistance Publique-Hôpitaux de Paris, Hôtel Dieu Hospital, Paris, France.
authors.forename: Ly
authors.initials: L
authors.lastname: Hoang
authors.affiliation: Pediatric Hematology-Immunology and Rheumatology Unit, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades University Hospital, Paris, France; CEREDIH (French National Reference Center for Primary Immune Deficiencies), Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades University Hospital, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France.
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Neven
authors.affiliation: Pediatric Hematology-Immunology and Rheumatology Unit, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades University Hospital, Paris, France; CEREDIH (French National Reference Center for Primary Immune Deficiencies), Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades University Hospital, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France.
authors.forename: Despina
authors.initials: D
authors.lastname: Moshous
authors.affiliation: Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France; Biotherapy Department, Necker Children's University Hospital, AP-HP, Paris, France; Biotherapy Clinical Investigation Center, Groupe Hospitalier Universitaire Ouest, AP-HP, INSERM, Paris, France.
authors.forename: Marina
authors.initials: M
authors.lastname: Cavazzana
authors.affiliation: Pediatric Hematology-Immunology and Rheumatology Unit, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades University Hospital, Paris, France; CEREDIH (French National Reference Center for Primary Immune Deficiencies), Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades University Hospital, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Blanche
authors.affiliation: Pediatric Hematology-Immunology and Rheumatology Unit, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades University Hospital, Paris, France; CEREDIH (French National Reference Center for Primary Immune Deficiencies), Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades University Hospital, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France; Collège de France, Paris, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.affiliation: Immunology Laboratory, Nantes University Hospital, Nantes, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Audrain
authors.affiliation: URC Eco (Clinical Research Unit in Health Economics), Assistance Publique-Hôpitaux de Paris, Hôtel Dieu Hospital, Paris, France; Public Health Unit, Henri Mondor Hospital, Assistance Publique-Hôpitaux de Paris, INSERM UMR 1123, Créteil, France. Electronic address: isabelle.durand-zaleski@hmn.aphp.fr.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Durand-Zaleski
mesh_terms: D001681:Biological Assay / Q000191:economics*; D003362:Cost-Benefit Analysis; D042241:Early Diagnosis; D005260:Female; D005602:France; D017048:Health Care Costs; D018380:Hematopoietic Stem Cell Transplantation / Q000191:economics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008231:Lymphopenia / Q000175:diagnosis* / Q000191:economics / Q000401:mortality / Q000628:therapy; D008297:Male; D015997:Neonatal Screening / Q000191:economics* / Q000379:methods; D011948:Receptors, Antigen, T-Cell / Q000032:analysis; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000191:economics / Q000401:mortality / Q000628:therapy; D016019:Survival Analysis; D013601:T-Lymphocytes / Q000276:immunology / Q000473:pathology
chemical_list: D011948:Receptors, Antigen, T-Cell
keywords: Primary immunodeficiency; cost-effectiveness; health economics; health policy; newborn screening; severe T-cell lymphopenia; severe combined immunodeficiency