Journal of Community Genetics

, Volume 3, Issue 1, pp 35–45

Consolidating newborn screening efforts in the Asia Pacific region

Networking and shared education

Authors

    • Department of Pediatrics, College of MedicineUniversity of the Philippines Manila
    • Newborn Screening Reference CenterNational Institutes of Health (Philippines)
  • Bradford L. TherrellJr.
    • Department of PediatricsUniversity of Texas Health Science Center at San Antonio
    • National Newborn Screening and Genetics Resource Center
  • on behalf of the Working Group of the Asia Pacific Society for Human Genetics on Consolidating Newborn Screening Efforts in the Asia Pacific Region
Original Article

DOI: 10.1007/s12687-011-0076-7

Cite this article as:
Padilla, C.D., Therrell, B.L. & on behalf of the Working Group of the Asia Pacific Society for Human Genetics on Consolidating Newborn Screening Efforts in the Asia Pacific Region J Community Genet (2012) 3: 35. doi:10.1007/s12687-011-0076-7

Abstract

Many of the countries in the Asia Pacific Region, particularly those with depressed and developing economies, are just initiating newborn screening programs for selected metabolic and other congenital disorders. The cultural, geographic, language, and economic differences that exist throughout the region add to the challenges of developing sustainable newborn screening systems. There are currently more developing programs than developed programs within the region. Newborn screening activities in the Asia Pacific Region are particularly important since births there account for approximately half of the world’s births. To date, there have been two workshops to facilitate formation of the Asia Pacific Newborn Screening Collaboratives. The 1st Workshop on Consolidating Newborn Screening Efforts in the Asia Pacific Region occurred in Cebu, Philippines, on March 30–April 1, 2008, as a satellite meeting to the 7th Asia Pacific Conference on Human Genetics. The second workshop was held on June 4–5, 2010, in Manila, Philippines. Workshop participants included key policy-makers, service providers, researchers, and consumer advocates from 11 countries with 50% or less newborn screening coverage. Expert lectures included experiences in the United States and the Netherlands, international quality assurance activities and ongoing and potential research activities. Additional meeting support was provided by the U.S. National Institutes of Health, the Centers for Disease Control and Prevention, the U.S. National Newborn Screening and Genetics Resource Center, the International Society for Neonatal Screening, and the March of Dimes. As part of both meeting activities, participants shared individual experiences in program implementation with formal updates of screening information for each country. This report reviews the activities and country reports from two Workshops on Consolidating Newborn Screening Efforts in the Asia Pacific Region with emphasis on the second workshop. It also updates the literature on screening activities and implementation/expansion challenges in the participating countries.

Keywords

Newborn screening Asia Pacific Cebu Declaration Manila Declaration

Abbreviations

APSHG

Asia Pacific Society of Human Genetics

ASEAN

Association of Southeast Asian Nations

BH4

Tetrahydrobiopterin

BIA

Bacterial immunoassay

BIO

Biotinidase deficiency

CAH

Congenital adrenal hyperplasia

CDC

Centers for Disease Control and Prevention

CF

Cystic fibrosis

CH

Congenital hypothyroidism

CMV

Cytomegalovirus

ELISA

Enzyme-linked immunosorbent assay

EPI

World Health Organization Expanded Program on Immunization

FIA

Fluoro immunoassay

FT4

Free thyroxin

G6PD

Glucose-6-phosphate dehydrogenase

GAL

Galactosemia

GAL-1-P

Galactose-1-phosphate

GALT

Galactose transferase deficiency

IAEA

International Atomic Energy Agency

ICMR

Indian Council for Medical Research

IRMA

Immunoradiometric assay

IRT

Immunoreactive trypsinogen

ISNS

International Society for Neonatal Screening

IYCF

World Health Organization Global Bank on Infant and Young Child Feeding

JICA

Japanese International Cooperation Agency

N/A

Not available

NCBS

Newborn cord blood screening

NDBS

Newborn dried bloodspot screening

NIH

National Institutes of Health

NNSGRC

National Newborn Screening and Genetics Resource Center (United States)

NSQAP

Newborn Screening Quality Assurance Program

NSRC

Newborn Screening Reference Center (Philippines)

MS/MS

Tandem mass spectrometry

MSUD

Maple syrup urine disease

PAH

Phenylalanine hydroxylase

PHE

Phenylalanine

PKU

Phenylketonuria

RIA

Radioimmunoassay

SAARC

Southeast Asian Association for Regional Cooperation

T4

Thyroxine

TR-FIA

Time resolved fluoroimmunoassay

TSH

Thyrotropin (thyroid-stimulating hormone)

UNFPA

United Nations Fund for Population Activities (now called the UN Population Fund)

UNICEF

United National International Children’s Emergency Fund (now called the UN Children’s Fund)

USAID

United States Agency for International Development

WHO

World Health Organization

Copyright information

© Springer-Verlag 2012