Newborn screening — From ‘Guthrie age to Genomic age’

摘要

Many countries across the world have made newborn screening (NBS) mandatory. It is a laboratory test which screens the newborns for metabolic & genetic disorders, some of which can be treated or modified if detected early in life, and thereby preventing potentially disastrous consequences and saving the baby’s life. The last four decades have witnessed rapid evolution in implementation & strategies used for NBS in US, Europe, Japan & other industrialised nations where NBS is well accepted public health policy. India is going through a progressive transitional phase of control over infant mortality & morbidity due to infections and emergence of genetic conditions. This is the right time to review NBS program in totality considering the global scenario of its initiation, growth, advances in technologies & its transfer from conventional to mass spectrometry techniques, as well as selection & nature of candidate NBS disorders. Nevertheless, the impact of this worldwide movement of NBS is inadequate in India; this review article discusses the various efforts required to successfully introduce this significant health service for population benefits as well as the lacunae & limitations still exist in 21st century in India. Based on the high-risk screening of congenital metabolic conditions using mass spectrometry in India, the first hand experience of more than a decade is shared here to provide better opportunities & guidelines to those who have serious urge to pursue NBS as an important preventive public health program, be it at government, public or private level for the masses of India.