The Indian Practitioner

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New Born Screening in India: A Time to Implement National Policy


Affiliations
1 Founder Chairman, Foundation for Research in Genetics and Endocrinology- Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India
2 FRIGE-Institute of Human Genetics, Ahmedabad., India
3 Department of Genomics and Bioinformatics, FRIGE-Institute of Human Genetics, Ahmedabad, India
     

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India has the second largest population in the world and ~60,000 children are born every day. Due to the high birth rate in the country, a large number of infants are born with congenital malformations, genetic conditions like inborn error of metabolic disorders (IEM). Many of these IEMs are treatable if diagnosed at an early age. Interestingly, there are a few conditions like congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), Glucose 6 phosphate dehydrogenase (G6PD) deficiency that are treatable with a minimum of cost if identified early, which is the primary norm for new born screening (NBS). Hence, the presence of a screening program that screens newborn babies for common treatable conditions is essential to identify affected babies early. This shall aid in significant reduction of infant morbidity, mortality in the country with a significant reduction in national health burden. The present article describes the key points of a successful newborn screening program. It emphasizes the need for setting up a centralized screening program in India for the treatable genetic conditions: congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency.



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  • New Born Screening in India: A Time to Implement National Policy

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Authors

Jayesh Sheth
Founder Chairman, Foundation for Research in Genetics and Endocrinology- Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India
Aadhira Nair
FRIGE-Institute of Human Genetics, Ahmedabad., India
Harsh Sheth
Department of Genomics and Bioinformatics, FRIGE-Institute of Human Genetics, Ahmedabad, India

Abstract


India has the second largest population in the world and ~60,000 children are born every day. Due to the high birth rate in the country, a large number of infants are born with congenital malformations, genetic conditions like inborn error of metabolic disorders (IEM). Many of these IEMs are treatable if diagnosed at an early age. Interestingly, there are a few conditions like congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), Glucose 6 phosphate dehydrogenase (G6PD) deficiency that are treatable with a minimum of cost if identified early, which is the primary norm for new born screening (NBS). Hence, the presence of a screening program that screens newborn babies for common treatable conditions is essential to identify affected babies early. This shall aid in significant reduction of infant morbidity, mortality in the country with a significant reduction in national health burden. The present article describes the key points of a successful newborn screening program. It emphasizes the need for setting up a centralized screening program in India for the treatable genetic conditions: congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency.



References