Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry

Abstract

Newborn bloodspot screening (NBS) began as a research project in the Philippines in 1996 and was mandated by law in 2004. The program initially included screening for five conditions, with a sixth added in 2012. As screening technology and medical knowledge have advanced, NBS programs in countries with developed economies have also expanded, not only in the number of newborns screened but also in the number of conditions included in the screening. Various approaches have been taken regarding selection of conditions to be screened. With limited resources, low- and middle-income countries face significant challenges in selecting conditions for screening and in implementing sustainable screening programs. Building on expansion experiences in the U.S. and data from California on Filipinos born and screened there, the Philippine NBS program has recently completed its expansion to include 29 screening conditions. This report focuses on those conditions detectable through tandem mass spectrometry. Expanded screening was implemented in a stepwise fashion across the seven newborn screening laboratories in the Philippines. A university-based biochemical genetics laboratory provides confirmatory testing. Follow-up care for confirmed cases is monitored and provided through the NBS continuity clinics across the archipelago. Pre-COVID-19 pandemic, the coverage was 91.6% but dropped to 80.4% by the end of 2020 due to closure of borders between cities, provinces, and islands.

Keywords: Philippines; expanded newborn screening; metabolic screening; tandem mass spectrometry.

Figure 1

Location map of the seven Newborn Screening Centers (NSCs) currently providing screening laboratory services along with the number of Newborn Screening Facilities (NSFs) served by each. The seventeen different government regions are illustrated by the different colors.

Figure 2

Timeline and screening coverage for various stages of implementation of NBS in the Philippines. National insurance coverage for ENBS was approved in 2018. Despite the COVID-19 pandemic, which began in early 2020, NBS coverage in 2020 exceeded 80% and ENBS was 79.4%. Abbreviations: CH = Congenital Hypothyroidism; CAH = Congenital Adrenal Hyperplasia; GAL = Galactosemia; HCY = Homocystinuria; PKU = Phenylketonuria; DOH = Department of Health; G6PDD = Glucose-6-Phosphate Dehydrogenase Deficiency; MSUD = Maple Syrup Urine Disease; ASA = Argininosuccinic Aciduria; ENBS = Expanded Newborn Bloodspot Screening.

Figure 3

Planning diagram (2017—2030) for expanded newborn screening (adapted from reference [48]). Abbreviations used: NBS = Newborn Bloodspot Screening; ENBS = Expanded Newborn Bloodspot Screening; ISO = International Organization for Standardization; NSC = Newborn Screening Center; NSF = Newborn Screening Facility; PHIC = Philippine Health Insurance Corporation; RO = Regional Office.