NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Kanika SinghSunita Bijarnia MahayV L RamprasadRatna Dua PuriSandhya NairSheetal ShardaRenu SaxenaSudha KohliSamarth KulshreshthaIndrani GanguliKanwal GujralIshwar C VermaPublished in: BMC medical genetics (2020)
A higher carrier frequency for genetic deafness, cystic fibrosis and Pompe disease was unexpected, and contrary to the generally held view about their prevalence in Asian Indians. In spite of the small sample size, this study would suggest that population-based carrier screening panels for India would differ from those in the West, and need to be selected with due care. Testing should comprise the study of all the coding exons with its boundaries in the genes through NGS, as all the variants are not well characterized. Only study of entire coding regions in the genes will detect carriers with adequate efficiency, in order to reduce the burden of genetic disorders in India and other resource poor countries.