Newborn Screening Reference Center

Newborn Screening Reference Center (NSRC) was created as one of the components of the National Institutes of Health (NIH) in 2005. Its creation was mandated Republic Act 9288 or the Newborn Screening Act of 2004. 

NSRC was established as part of the National Comprehensive Newborn Screening System (NCNBSS) to provide technical assistance to the Department of Health (DOH) in reaching the ultimate goal of screening Filipino newborns for common life-threatening heritable disorders. It also seeks to address the need for information and resources in the area of newborn screening to benefit health professionals and the public health community. NSRC works closely with two offices of the DOH - the Bureau of Health Facilities and Services (BHFS) and the National Center for Disease Prevention and Control (NCDPC) to ensure that quality services are provided to babies being screened. NSRC works with BHFS in establishing Newborn Screening Centers (NSCs) in geographically located areas, as well as, in the preparation of defined testing protocols and quality assurance programs. It works hand-in-hand with NCDPC in establishing and integrating a sustainable newborn screening system within the public health delivery system.

Objectives:

  1. To ensure that every newborn has access to newborn screening for certain heritable conditions that result to mental retardation, serious health complications or death, if left undetected and untreated;
  2. To establish and integrate a sustainable newborn screening system within the public health system;
  3. To ensure that all health practitioners are aware of the advantages of newborn screening and the respective responsibilities in offering newborns the opportunity to undergo newborn screening; and
  4. To ensure that parents recognize their responsibility in promoting their children’s right health and full development, within the context of responsible parenthood, by protecting them from preventable causes of disability and death through newborn screening.

Research Resources

Research Capabilities:

  1. Provision of enabling environment for sustained capability building of researchers on newborn screening for specialists, laboratory and program personnel through allocation of budget for research, facilitating access and network to research and academic institutions, and actual provision of funding for continuing education programs/scholarships, etc.;
  2. Provision of data and statistics on newborn screening for researchers and other end-users;
  3. Creation of the Newborn Screening Panel of Disorders Experts Committees that provide:
    1. Research questions/directions,
    2. New information on the newborn screening disorders, 
    3. Review of datasets and cutoffs of the newborn screening disorders, and
    4. Review treatment and management protocol; and
  4. Creation of the National Newborn Screening Follow-up Committee (NNSFC) which includes among its functions the following: 
    1. Review submitted Newborn Screening Centers’ (NSCs)  reports on outcome of  positive screens and confirmed cases,
    2. Review of follow-up protocol, and
    3. Recommend revisions to follow up protocol for implementation by the NSCs.
  5. Overseeing the Quality Assurance Program for G6PD confirmatory test.   As the manager of the G6PD QA Program, NSRC:
    1. Provides technical assistance to laboratories offering G6PD confirmatory test;
    2. Ensures good laboratory practice in laboratories doing G6PD confirmatory test by establishing external laboratory proficiency testing and certification program in partnership with the International QA Program in Taiwan for G6PD. NSRC sends Proficiency Testing Samples to G6PD testing Laboratories every two months and submit the results to the International QA Program in Taiwan; and
    3. Reports and make recommendations, if necessary, to the National Center for Disease Prevention and Control (NCDPC).

Research Projects:

-Ongoing

  1. “Comparison of Bone Density among children with inborn errors of metabolism on protein or galactose-restricted diet and among children without protein or galactose-restriction”
    • Research Investigator: Melissa Mae P. Baluyot, MD
  2. “System-Provider-Mother Mechanisms and Newborn Screening Uptake in Selected Provinces of Cordillera Administrative Region (CAR) and Bicol Region (Region V)”
    • Research Investigator: Mary Ann Ladia, PhD
  3. “Correlation of Plasma and Urine Organic Acid Profiles of Filipino Patients with Maple Syrup Urine Disorder (MSUD) with their Neurologic Features”
    • Research Investigator: Mary Anne Chiong, MD

Upcoming

  1.  “Lived Experiences of Parents of Children with G6PD deficiency in the Philippines – Impact on Genetic Counseling"
    • Research Investigator: Melissa Mae P. Baluyot, MD
  2. "Communication of Genetic Information in Filipino Families Affected with Congenital Adrenal Hyperplasia" 
    • Research Investigator: Peter James B. Abad, RN
  3. “Prevalence of Hypothyroidism among patients with Congenital Hypothyroidism detected through Newborn Screening”
    • Research Investigator: Sylvia C. Estrada, MD, FPPS
  4. “Molecular characterization of Alpha Thalassemia in affected Filipino patients”
    • Research Investigator: Catherine Lynn Silao, MD, PhD
  5. “Molecular characterization of Beta Thalassemia in affected Filipino patients”
    • Research Investigator: Catherine Lynn Silao, MD, PhD
  6. “Etiology of hydrops fetalis- a multi center study”
    • Research Investigator: Maria Melanie Liberty B. Alcausin, MD
  7. “Newborn screening of critical congenital heart disease - a multi center study”
    • Research Investigator: Maria Melanie Liberty B. Alcausin, MD

Director

Carmencita D. Padilla, MD, MAHPS

Assistant Director

Ma. Elouisa L. Reyes

Imelda A. de Leon, RMT

Maria Melanie Liberty B. Alcausin, MD (for appointment)

University Researcher

Evangeline Capul, MD

Fellow, Clinical Genetics

Leniza D. Hamoy, MD

Fellow, Endocrinology Program

Jackie Lou B. Soriano, MD

Visit the website