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

Area of Science:

• Medical Genetics
• Public Health
• Biochemistry

Background:

• The Philippine Newborn Bloodspot Screening (NBS) program, established in 1996 and mandated in 2004, initially screened for five conditions.
• Advancements in screening technology and medical knowledge have led to program expansions in developed nations, prompting similar considerations for resource-limited countries.

Purpose of the Study:

• To detail the recent expansion of the Philippine NBS program to include 29 screening conditions, focusing on those detectable by tandem mass spectrometry.
• To describe the implementation strategy and challenges faced in expanding NBS services in a low- and middle-income country context.

Main Methods:

• The expansion was implemented in phases across seven laboratories nationwide.
• Confirmatory testing is centralized at a university-based biochemical genetics laboratory.
• Follow-up care is managed through a network of NBS continuity clinics.

Main Results:

• The Philippine NBS program now screens for 29 conditions, incorporating tandem mass spectrometry capabilities.
• Screening coverage, which was 91.6% pre-pandemic, decreased to 80.4% by late 2020 due to pandemic-related travel restrictions.
• The expansion was informed by international experiences and data from specific demographic groups.

Conclusions:

• The expanded NBS program in the Philippines represents a significant step in improving early detection of genetic disorders.
• Sustaining high screening coverage remains a challenge, particularly in the context of global health crises and logistical hurdles.