Bio Spectrum - July 2018

CORRECT THE GENETIC BURDEN
COVER
DESIGN BY:
Neha Metha
An estimated of 495,000 infants are born each year in India with congenital malformations, 21,400 with Down
syndrome, 9,000 with thalassemia, 5,200 with sickle cell disease, and 9,760 with amino acid disorders. Currently
the diagnostic and rehabilitation facilities are scarce and focused in certain limited locations but the effects of
these diseases are immense. Research shows that Genetic and congenital abnormality in India is the second
most common cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births.
The growing burden of Genetic Disorders may be multifactorial in origin, comprising of climate changes,
environmental pollution, later age for conceiving a baby, hectic lifestyles etc. But this can be curbed by making
genetic testing centres easily accessible for expecting couples as and when needed. Currently, government has
adopted universal screening for Congenital Hearing Deficit in the state of Kerala. Also, Goa Government had
started the universal screening for all newborns for Congenital Metabolic Problems. But similar programmes
are needed across the country to deal with the outset as early as possible.
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