Research priorities in newborn screening

Abstract

Today, neonatal screening is the best known and most widely used genetics-related preventive pediatric public health initiative in the world. In a developing country like India although newborn screening has been started to some extent in urban cities, it still remains available to less than 1% of total newborn population.¹ Guidelines for which disorders are to be screened and which tests are to be done for identifying the disorders are still in the process of being evolved. Various research projects taken by institutions like the Indian Council of Medical Research are being done in various parts of the country to identify commonly prevalent disorders. But still a lot has to be done to specifically identify the incidence and prevalence of these disorders in various states in the country. In India, inspite of the newborn screening tests being available, specific treatments like special diets (e.g. for Phenylketonuria, MSUD and others) are not still available, thus requiring further research at a local level to find out the substitutes. Newer tests for screening and diagnosis are also being developed. For this, proper research is required to identify their sensitivity and specificity.