Genetic testing can save your newborn

An estimated 6.2 lakh of the 2.6 crore babies that are born in India every year suffer from genetic disorders. Experts feel that it is time we put a mandatory newborn genetic screening programme in place. Neha Bhayana reports.

A newborn in the United States does not leave the hospital till his/her heel is pricked for a few drops of blood required for a genetic test. The same happens in 52 countries across the world.

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In January 2007, the Chandigarh government started funding mass genetic screening of newborns. A year later, Goa became the first state to make it mandatory. But the concept is yet to take off in the rest of India.

An estimated 6.2 lakh of the 2.6 crore babies that are born in India every year suffer from genetic disorders.

Experts feel that it is time we put a mandatory newborn genetic screening programme in place. “If the conditions are detected at birth, one can start treatment and help the child lead a normal life,” said obstetrician Dr Saurabh Dani, who is attached with Bangalore-based Neo Gen Labs.

“So if a baby is diagnosed with Glucose-6-phosphate dehydrogenase deficiency, which is fairly common among Indian children, it can be managed easily if the child avoids eating kidney beans and taking sulphur-based drugs throughout his life,” he said.

Dr Murlidhar Mahajan, a Kandivli-based paediatrician, said that genetic testing is even more important in India as many communities including Parsis, Muslims and South Indians have consanguinous marriages (between relatives).

Bhopal-based Manjeet Singh’s niece, who lost her baby to a genetic disorder, agreed. “My niece is married to her cousin. Her baby looked perfectly healthy on delivery but refused to accept feeds and went into coma and died within a fortnight,” Singh said.

Experts also pointed out that it is best to do the genetic test within a week after birth.

“If the test is conducted when the child is a few months old and has already developed symptoms, then the damage is already done as over 90 per cent of disorders are present at birth and manifest at some point or the other in life,” said Vrushali Joshi, senior research associate at Preventine Life Care.

Jaslok Hospital’s neo-natologist Dr Meena Malkani agreed. “We conduct ultrasound and other tests to ensure the baby's development is normal. Genetic screening is another way of doing that,” she said.

Jaslok Hospital has tied up with Metropolis laboratories to offer a test for seven common metabolic errors to all new parents.

Over 50 families have gone for the test in the last six months. A section of doctors, however, feel that making genetic testing mandatory is not feasible in a developing country.

“Genetic tests are too expensive to be effective as a mass screening tool. We need to ensure that every child gets immunized and has access to clean drinking water first,” said Dr Soonu Udani, consultant paediatrician with PD Hinduja Hospital.