From 30 Conditions to Thousands: The Genomic Leap in Newborn Care
The Philippines’ Expanded Newborn Screening Program currently screens infants for approximately 30 congenital and inherited conditions. That number, while significant, represents a fraction of the estimated 7,000 rare diseases that affect populations worldwide. Many of these conditions manifest in early infancy, and delays in diagnosis can mean the difference between timely intervention and irreversible harm.
In June 2026, a government-led pilot project signaled a major shift. The Institute of Human Genetics (IHG) at the National Institutes of Health, University of the Philippines Manila, selected 3billion, an AI-powered rare disease diagnostics company, to provide whole-exome sequencing (WES)-based confirmatory testing for newborns with abnormal results from the national screening program. The project, secured through government procurement, represents the first government-led initiative for 3billion’s 3B-NEO genomic newborn screening service, which launched earlier that month.
How Genomic Newborn Screening Works in Practice
Under the pilot, newborns suspected of having genetic disorders will receive WES-based confirmatory testing. 3billion will provide reports analyzing disease-associated variants and clinical interpretations to support diagnosis of conditions including fatty acid oxidation disorders, galactosemia, biotinidase deficiency, and cystic fibrosis. The clinical utility extends beyond diagnosis: identifying the specific genetic cause enables clinicians to select targeted treatments, avoid ineffective or harmful interventions, and provide families with accurate recurrence risk counseling.
Changwon Keum, CEO of 3billion, emphasized that the project is “an early-stage collaboration to integrate genomic diagnostics into the Philippines’ newborn screening system”. The longer-term goal is to expand screening to healthy newborns, moving genomic newborn screening from a confirmatory tool to a preventive one.
The Rare Disease Landscape in the Philippines
The need is substantial. A regional program supported by Temasek Foundation and KK Women’s and Children’s Hospital in Singapore, which has provided genetic testing to families across Southeast Asia since 2022, found that 49 percent of 66 Filipino families participating in the program received a diagnosis through collaboration with IHG and the National Institutes of Health at UP Manila. That nearly half of tested families received a definitive diagnosis underscores the diagnostic power of genomic testing — and the tragedy of delayed access.
The pilot also addresses a broader equity concern. Genomic newborn screening has been available in high-income countries for years, but cost and infrastructure barriers have kept it out of reach in most low- and middle-income settings. By integrating WES into an existing public health program — the Expanded Newborn Screening Program — the Philippines is testing a model that could be replicated across Southeast Asia. 3billion has stated its intention to expand its 3B-NEO service across high-birth-rate markets in the region and in Latin America.
Infrastructure, Workforce, and Ethical Considerations
Scaling genomic newborn screening requires more than sequencing capacity. The NAST PHL roundtable in June 2026 identified insufficient numbers of genetic counselors and clinician-scientists as a critical barrier to translating genomic data into clinical action. Newborn screening programs generate large volumes of genetic information, and families need clear, culturally appropriate counseling to navigate results — including variants of uncertain significance that may not have immediate clinical implications.
Data privacy is another consideration. Genomic data is uniquely sensitive, containing information not only about the individual but also about biological relatives. The Philippines’ Data Privacy Act provides a legal framework, but the operational guidelines for genomic data sharing, storage, and secondary research use remain under development.
The pilot project is a beginning, not an endpoint. Its success will be measured not only by diagnostic yield but by whether it builds the institutional capacity, ethical safeguards, and financing pathways needed for nationwide adoption.