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Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of
Marie Caroline Clément1, Nizar Mahlaoui2, Cécile Mignot3
1URC Eco (Clinical Research Unit in Health Economics), Assistance Publique-Hôpitaux de Paris, Hôtel Dieu Hospital, Paris, France.
Insights
Early detection of severe combined immunodeficiency (SCID) through newborn screening can save €50,000-€100,000 per case. Universal screening is likely cost-effective, especially if early hematopoietic stem cell transplantation (HSCT) improves survival rates.
Area of Science:
- Immunology
- Genetics
- Public Health
Background:
- Severe combined immunodeficiency (SCID) is a group of rare genetic disorders characterized by profound defects in T-cell and B-cell immunity.
- The debate continues regarding the inclusion of SCID in Europe-wide newborn screening programs.
Purpose of the Study:
- To evaluate the economic impact of early SCID detection and management within the French newborn screening program.
- To determine the costs incurred and potential savings associated with early versus delayed treatment of SCID.
Main Methods:
- A microcosting study assessed laboratory test costs using T-cell receptor excision circle quantification on Guthrie cards.
- Treatment costs were analyzed for SCID patients (2006-2010) undergoing hematopoietic stem cell transplantation (HSCT), comparing early (≤3 months) versus delayed (>3 months) procedures.
- National production costs were used to estimate patient admission costs.
Main Results:
- The unit cost per newborn screening test ranged from €4.69 to €6.79.
- Patients undergoing delayed HSCT (>3 months) had significantly higher medical costs (€195,776) compared to those with early HSCT (≤3 months; €86,179).
- Delayed HSCT was associated with higher mortality (10/27 deaths) and increased costs due to active infection.
Conclusions:
- Early SCID detection can reduce treatment costs by €50,000-€100,000 per case.
- The break-even incidence for screening is estimated at 1:20,000, assuming a €5 test cost.
- Universal newborn screening for SCID is likely cost-effective if the survival benefit of early HSCT is confirmed.
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.
Conclusion:
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.
