Expanded Newborn Screening Program in the Philippines: A Lifesaving Leap Forward for Rare Diseases 

The Department of Health (DOH) has taken a significant step toward improving the health outcomes of Filipino infants by expanding the country’s Newborn Screening (NBS) Program to include more rare congenital disorders. This landmark move, implemented in collaboration with the Newborn Screening Reference Center (NSRC) and the National Institutes of Health (NIH) of the University of the Philippines Manila, underscores the government’s commitment to early detection, intervention, and equitable access to healthcare.

What is the Newborn Screening Program?

Launched in 1996, the Philippine Newborn Screening Program aims to detect certain congenital metabolic disorders that, if left untreated, can lead to mental retardation, severe physical disability, or even death. Initially, the standard screening included five conditions: Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Galactosemia, Phenylketonuria, and G6PD Deficiency.

Over time, scientific and clinical advancements have enabled the program to evolve. In 2014, the Expanded Newborn Screening (ENBS) was introduced, increasing the number of conditions tested from 6 to over 20. Today, that number has been further expanded to include a total of 29 conditions, with additional disorders in consideration as technology, capacity, and data grow.

What’s Included in the Expanded Panel?

The current ENBS includes screening for the following conditions:

• Endocrine Disorders: Congenital Hypothyroidism, Congenital Adrenal Hyperplasia

• Amino Acid Disorders: Phenylketonuria, Maple Syrup Urine Disease, Tyrosinemia Type 1

• Organic Acid Disorders: Methylmalonic Acidemia, Propionic Acidemia

• Fatty Acid Oxidation Disorders: Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD), Very Long-chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)

• Hemoglobinopathies: Alpha and Beta Thalassemias, Sickle Cell Disease

• Others: G6PD Deficiency, Galactosemia, Biotinidase Deficiency, Cystic Fibrosis, and more.
  
  

Why Focus on Rare Diseases?

While individually rare, collectively, rare diseases affect millions of people. Many of these conditions present no obvious symptoms at birth, and by the time symptoms emerge, irreversible damage may have occurred. Early detection through ENBS gives children a better chance at normal development through timely treatment or dietary interventions.

By expanding coverage to include rare disorders such as Citrullinemia, Homocystinuria, and Multiple Carboxylase Deficiency, the program ensures that more Filipino children will have a fighting chance at life before symptoms can set in.

The Implementation Process

The expansion of ENBS follows a rigorous validation and implementation roadmap:

1. Pilot Studies – Conducted across select hospitals and birthing centers to evaluate testing protocols.

2. Training Programs – Health workers and midwives undergo continued training on the procedures for sample collection, handling, and counseling.

3. Infrastructure Support – New regional NBS centers have been set up to accommodate increased testing capacity.

4. Partnerships – DOH works closely with LGUs, UNICEF, WHO, and NGOs to ensure equitable access, especially in rural and underserved communities.
   
   

Challenges and How They Are Addressed

Awareness Gaps: Many parents and even some healthcare providers are not fully aware of the importance of ENBS. The DOH and NSRC continue to push for public awareness campaigns and education programs.

Accessibility: Not all birthing centers have the facilities to collect and send NBS samples. To address this, the government has launched a strategy to integrate ENBS into the Universal Health Care (UHC) Law implementation and PhilHealth coverage.

Cost Barriers: Though the basic NBS is subsidized, ENBS initially had a co-payment requirement. However, through partnerships with PhilHealth and increased government funding, the goal is to provide expanded screening at no additional cost to families.

Integration with UHC and Future Plans

The expanded program aligns with the UHC Law’s vision of preventive healthcare. In 2023, the DOH announced plans to make ENBS universal across all accredited birthing facilities, with a target of screening at least 95% of all newborns nationwide.

Future plans include integrating genomic testing, expanding laboratory capacities, and digitizing records for better tracking and follow-up of patients with positive screening results.