Only 2% infants go through screening for IEM: Doctor

New Delhi: As compared to 90 per cent of children in China, only 2 percent in India go through newborn screening, said doctor Seema Kapoor, Division of Genetics in the Department of Paediatrics at Lok Nayak Hospital, at a panel discussion on Inborn Errors of Metabolism (IEM), held at AIIMS. Often referred to as congenital metabolic diseases or inherited metabolic disorders, IEMs are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in proteins that help breakdown food.

In India, the exact incidence is not known, but based on estimates in other countries, 3-4 babies out of 1,000-sick newborns suffer from IEMs, which if not diagnosed timely and treated adequately, may be life threatening. The panelists noted that newborn screening can identify some of these disorders. Metabolic physicians and registered dietitians and other healthcare providers can help manage these babies optimally, however, the Centre is yet to have a national mandatory screening program for newborn babies for IEM disorders. Some States, however, have initiated newborn screening for a limited number of disorders.

Doctors said that awareness is limited among the parents and the tests are expensive in private labs, and the medicines are not readily available for treatment. The discussion was organised by the Division of Genetics in the Department of Paediatrics at Lok Nayak Hospital; AIIMS, Delhi; MERD INDIA Foundation, Jaipur; and IEM Support Charitable Trust, Delhi, in collaboration with Division of Genetics, Department of Paediatrics, MAMC.

Professor VK Paul, member NITI Aayog, urged doctors and social organisations to present a paper on Inborn Errors of Metabolism so that the government can include it in their upcoming health agenda. "The health budget has increased from current 1.3 to 2.5 per cent of GDP in the coming year, there is a lot of scope to reduce the burden of parents of IEM children," he said.

Dr IC Verma, also known as Father of genetics in India, emphasized on the need of duty free import of special diets for the IEM children. As these diets are required life long and are expensive and not within the reach of common man, governments should consider subsidising these diets.