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Pilot study for the neonatal screening of congenital T cell lymphopenias

Isaura P. Sánchez1, 2*, Jose L. Franco2, Andres A. Arias2, Julio C. Orrego2, Mónica L. Giraldo2, Sebastian Gutierrez Hincapie2, Frank D. Rojo1, Enrique M. Velásquez3, Augusto Quevedo3, Antonio Condino-Neto4 and Claudia M. Trujillo2
  • 1 Corporación Universitaria Remington, Colombia
  • 2 Universidad de Antioquia, Colombia
  • 3 Universidad de Antioquia, Colombia
  • 4 University of São Paulo, Brazil

Introduction: T-cell lymphopenias involved at least 24 conditions characterized by a marked decrease or absence of T lymphocytes in peripheral blood (PB). The frequency of these diseases vary from 1:3000 live births for DiGeorge Syndrome (DGS, the most common cause of T-cell lymphopenia) to 1:33.000 for Severe Combined Immunodeficiency (SCID), the most life-threatening T-cell lymphopenia. Although SCID and other severe T cell lymphopenias fulfill the requirements to be included in newborn screening (NBS) programs, these are performed neither worldwide nor in Colombia. T-cell lymphopenias NBS would allow promptly intervention of such conditions through haematopoietic stem cell transplantation (HSCT), preventing severe infections, organ damage, long hospitalization periods, expensive medication and death, which cause tremendous costs for our health care system. T-cell lymphopenias NBS can be easily implemented by quantifying T-cell receptor excision circles (TRECs). The main goal from our study is to lead the implementation of a NBS program for T-cell lymphopenias in Medellín, and at long term, to shape a laboratory network for the prenatal and neonatal diagnosis of these conditions in Colombia based in formally established public health acts about the issue. Methods: This pilot study will conform a network for sample collection with several Medellín Neonatology Units. Quantification of TRECs will be perform by real-time quantitative polymerase chain reaction (qPCR) using DNA isolated from filter paper dried blood spots collected from the heel of 100 newborns. Results: Our proposal was well received by five neonatologist units from Medellin and we are currently applying for the IRB approval. We have also advanced in comparing the TRECs costs using commercial kits with available research-used-only (RUO) reagents already established for the NBS program according to the Jeffrey Modell Centers Network (JMCN, calculated in USD 5 in the USA per test). The use of the kit increases costs by 21-fold. These data emphasize the need of adjusting the protocols for standardizing the TRECs in our country according to the JMCN. We also extrapolate the cost-effective balance of the TRECs testing in Medellin. Considering that the 2013 live birth number in our city was calculated in 27,569 (according to Departamento Administrativo Nacional de Estadística-DANE) and assuming that the DGS incidence in the city is similar to that calculated in the USA, the NBS would detect approximately 9 cases per year. The cost of the NBS program, taking into account an individual screening value of USD 5 in the USA, would be USD 137,845. Taking into account that the cost of an individual HSCT together with the post-transplant care is approximately USD 320,000, the cost for the annual NBS program plus curative treatment for lymphopenias in Medellín would be approximately USD 3,017,845. By contrast, if newborns with a possible T-cell lymphopenia are not screened at birth, they will develop infections requiring prolonged hospitalization and special treatment with an estimated cost of USD 2,000,000 per year. Thus, the total annual health care costs for the 9 calculated affected newborns with lymphopenia in Medellín would amount to USD 18 million, representing a 5.9 fold increase for the system. Moreover, an undiagnosed child suffering from lymphopenia would hopelessly die in the first five years of live, decreasing the statistics for childhood wellbeing in Colombia, a good indicator of country development. Conclusions: Our results will demonstrate that is profitable and cost-effective to adopt NBS programs for T-cell lymphopenias in Medellín despite administrative and logistics restrictions and more importantly, the educational limitations of the health care agencies and medical community, that have not experienced the advantages of disease prevention and promptly management in primary immunodeficiencies. We pretend to expand this initiative for the early diagnosis of other rare diseases and to establish procedures for the early treatment and complications prevention of affected patients by personalized medicine strategies. Conflict of interest: The authors declare that they have no conflict of interest.

Keywords: TRECs, newborn screening (NBS) programs, T-cell lymphopenias in Medellín, Severe Combined Immunodeficiency, DiGeorge Syndrome

Conference: IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología, Medellin, Colombia, 13 Oct - 16 Oct, 2015.

Presentation Type: Poster Presentation

Topic: Immunodeficiencies

Citation: Sánchez IP, Franco JL, Arias AA, Orrego JC, Giraldo ML, Gutierrez Hincapie S, Rojo FD, Velásquez EM, Quevedo A, Condino-Neto A and Trujillo CM (2015). Pilot study for the neonatal screening of congenital T cell lymphopenias. Front. Immunol. Conference Abstract: IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología. doi: 10.3389/conf.fimmu.2015.05.00127

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Received: 28 May 2015; Published Online: 14 Sep 2015.

* Correspondence: PhD. Isaura P Sánchez, Corporación Universitaria Remington, Medellin, Antioquia, N/A, Colombia, isapisan@gmail.com