HYDERABAD: A major obstacle for going about a nationwide screening programme for newborns to spot predominant disorders was lack of awareness among the people. This is despite the country having state-of-the-art infrastructure facilities and competent medical personnel.
This observation was made by the director of Osmania University’s Institute of Genetics (IOG) Dr. B. Vijaya Lakshmi at an event commemorating the World Rare Disease Day organised in the IOG office at Begumpet here on Thursday.
She said that they had launched a system to screen newborns to trace predominant disorders. “This screening will help us identify and reduce preventable developmental delay, disability, morbidity and mortality during infancy and childhood,” she said.
Such screening programs are integral to national healthcare policies in Canada, Japan, the USA, South Korea, Australia and Taiwan.
R.V. Karnan, health and family welfare commissioner, said, “It is important to prevent recurrence of rare diseases. We are developing advanced carrier screening and genetic counselling to prevent the frequency of the rare diseases.”
Karnan interacted with children with special needs and distributed healthcare kits on the occasion.
Dr. Usha Dutta, cytogeneticist at the Centre for DNA Fingerprinting and Diagnostics, spoke about diagnostic detection of rare diseases with a special emphasis on spinal muscle atrophy (SMD) and duchenne muscular dystrophy (DMD).
IOG foetal medicine specialist Dr. B. Srinadh spoke about prenatal genome analysis of rare genetic diseases.
