Chennai: The advent of Next Generation Sequencing (NGS) has changed the way clinicians now diagnose and manage genetic disorders. This technology is currently at the forefront of genetic diagnosis in India and globally. NGS has not only changed routine diagnostics but has also helped in identifying novel mutations in common diseases in the Indian population. In one such research study MedGenome Labs in partnership with Sir Ganga Ram Hospital New Delhi conducted a pilot research to determine the carrier frequency and to look for any novel mutations seen in the Indian population for common genetic disorders. The study was conducted over a period of 22 months with a sample size of 200 unrelated individuals in the North Indian population. After pre-test genetic counselling the 200 individuals were screened for pathogenic variants in shortlisted 88 genes using NGS technology. These variants were classified as per the guidelines of American College of Medical Genetics. Out of the 200 participants 52 (26 per cent) were found to be carriers of one or more rare genetic disorders 12 individuals (6 per cent) were identified to be carriers for congenital deafness and the nine individuals (4.5 per cent) were observed to be carriers for cystic fibrosis. Three individuals were detected to be carriers for Pompe disease. This study showed a higher carrier frequency for these disorders which was contrary to the generally held view about their low prevalence in Asian Indians. Another interesting finding was that the disease causing variants observed for disorders such as deafness cystic fibrosis Pompe disease Canavan disease primary hyperoxaluria junctional epidermolysis bullosa galactosemia medium chain acyl CoA deficiency etc. were different from what is seen in the Western population. Thus this pilot study highlights the importance of having a Genetic Variant Database for the Indian population.

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