Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines.

Anna Lea G Elizaga,Maria Beatriz P Gepte,Carmencita D Padilla,J Edgar Winston C Posecion,Alma P Andal,Ma Elouisa L Reyes,Conchita G Abarquez,Maria Paz Virginia K Otayza,Reynaldo C De Castro,Carolyn C Hoppe,Charity M Jomento,Bernadette C Halili-Mendoza,Riza Concordia N Suarez,Maria Melanie Liberty B Alcausin,Ebner Bon G Maceda,Bradford L Therrell

doi:10.3390/ijns7020030

Abstract

The Philippine newborn bloodspot screening (NBS) program began in 1996 with 24 hospitals and was formalized by legislation in 2004. The NBS panel was recently expanded to include a number of additional hereditary congenital conditions. Expertise and experiences from other NBS programs already screening for hemoglobinopathies were essential to its successful integration into the ongoing dried bloodspot NBS program in the Philippines. Building on clinical experiences and population data from Filipinos born in California, USA, hemoglobinopathies (including thalassemias) were selected for inclusion in the expanded screening panel. Hemoglobinopathy NBS, using high performance liquid chromatography, was implemented in a stepwise manner into the seven regional NBS screening laboratories. A central university laboratory provides confirmatory testing using both capillary electrophoresis and molecular methodologies. NBS results indicating carriers are followed up with educational fact sheets, while results of presumptive disease are referred for confirmatory testing and follow-up with a hematologist. Long-term care is provided through newborn screening continuity clinics across the country. Hemoglobinopathy NBS is now included in the national insurance package and screening uptake continues to increase nationally, exceeding 90% of all newborns in 7400+ hospitals and birthing centers nationwide prior to the COVID-19 pandemic.

Highlights

This included the methods for selecting conditions for inclusion on the screening panel and various other expansion considerations Gaining from these experiences, the Philippine newborn bloodspot screening (NBS) program initiated a review of its options regarding expansion
A review of available data from NBS programs screening large numbers of Filipino expatriates was initiated in order to ascertain: (1) whether NBS results on disorders not currently included in the Philippine NBS program were available, and (2) whether any such results were suitable to serve as a proxy for pilot testing in the Philippines
The addition of hemoglobinopathy screening to the Philippine NBS panel was a multi-step process that began with the collection of population incidence data and evaluation of the possible costs and benefits

Summary

Introduction

The initial intent was: (1) to establish the incidence of 6 congenital conditions, congenital hypothyroidism (CH), phenylketonuria (PKU), galactosemia (GAL), congenital adrenal hyperplasia (CAH), homocystinuria (HCY), and glucose-6-phosphate dehydrogenase (G6PD) deficiency; and (2) to make recommendations for the adoption of newborn screening nationwide. Building on the data obtained, a 5-condition screening panel, excluding G6PD deficiency, was initiated in 1996 funded by the USD 9 fee-for-service [1,2,3]. NBS for G6PD deficiency was added to the screening panel in 1998. NBS services for other hospitals (generically referred to as Newborn Screening Facilities or NSFs) was opened in 1999 and, by 2000, 153 hospitals were providing NBS, 114 of which were outside of Metro Manila [1]. In 2000, HCY was discontinued due to a lack of case findings and later, in 2012, maple syrup urine disease (MSUD) was added to the screening panel, completing the basic panel in place prior to the most recent expansion discussed here [4]

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Results

Discussion

Conclusion