Delhi government facility brings free newborn screening for genetic diseases, to be replicated across city

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Just inside Gate 1 of Lok Nayak Jai Prakash Hospital, Delhi’s largest government-run tertiary-care hospital, a low, rectangular building sits beside the new medical block. It houses the hospital’s Medical Genetics Lab.Inside, a brightly lit corridor runs past about 10 rooms. Near the entrance is the sample-collection area. Farther down, behind a door closed to the public, stands an ultra low temperature freezer, its silver body resting on a blue base. It stores biological samples for long-term preservation. Next door is the newborn screening laboratory.This is where the Delhi government’s free screening programme for newborns, Mission ANMOL (Advanced Newborn Monitoring for Optimal Lifecare) is being run since March, making genetic screening accessible for families who may otherwise be unable to afford such advanced diagnostics.The programme, announced in the Delhi government’s 2026-27 Budget earlier this year, aims to screen 250,000 newborns annually for 56 genetic diseases, including congenital hypothyroidism, congenital heart defects, hearing impairment, and eye diseases.Currently, this is the only such facility run by the Delhi government. But Delhi Health Minister Pankaj Kumar Singh said the genetic testing facilities would soon be expanded to other government hospitals across the city.“At a recent Cabinet meeting, we decided to expand the coverage of Mission ANMOL. Our aim is to screen every child born in Delhi, free of cost, for 56 genetic diseases so that these conditions can be detected early and children can receive timely care. Gradually, we will expand the scope of the programme and increase the number of genetic testing laboratories across Delhi,” he said.Dr Seema Kapur, professor of genetics at the Medical Genetics Lab, said an average of about 14,000 newborn samples are being screened each month. However, she underlined that not all genetic conditions are identified through these tests.Story continues below this ad“Newborns may be referred for testing if they have developmental delays, birth defects or an illness that doctors cannot explain. Apart from newborn screening, the department receives around 30-40 such referrals each day,” she said.The laboratory screens for a range of genetic and other conditions that can be difficult to detect at birth.“In newborn babies, we primarily look for G6PD deficiency, which can cause red blood cells to break down; thyroid problems that can affect the baby’s development; and congenital adrenal hyperplasia, a condition in which the adrenal glands do not produce some hormones properly, along with around 50 other markers,” said Dr Sunil Polipalli, a senior scientist at the laboratory.Besides screening newborns, Dr Kapur said the facility also offers genetic testing for parents, particularly when a genetic condition has been identified in a family member.Story continues below this adAmong those waiting outside the sample collection centre is Pratibha Kumari, 25, who is 16 weeks pregnant. She and her husband, Amit Kumar, 29, were referred by the outpatient department at LNJP. Pratibha had undergone a complete blood count and a TORCH profile — a group of blood tests to screen pregnant women for specific infections. The results prompted doctors to take a closer look.Pratibha and Amit have been sent to the genetics laboratory for two tests: high-performance liquid chromatography, or HPLC, which checks the different types of haemoglobin in the blood, and HBB gene analysis, which looks for changes in a gene involved in making haemoglobin. Together, the tests can help doctors determine whether either parent carries conditions like thalassemia or sickle cell disease, and if there could be a risk to the baby.“For most parents referred here, our main goal is to find out if one or both carry a haemoglobin trait — thalassemia, sickle cell anaemia or other genetic abnormality — and what that means for the baby,” said Dr Polipalli. “If both parents carry the sickle cell trait, there is a 25 per cent chance that the child will inherit the disease.”Parents are screened for the thalassemia trait one at a time. “Wife first, then husband, then both together — HPLC before anything more invasive is considered,” said Dr Polipalli. “If both parents carry the trait, the next step may be chorionic villus sampling, or CVS, in which a small amount of tissue is taken from the placenta to test the foetus’s DNA,” he said.Story continues below this adPregnancy-related tests, including the dual-marker, triple-marker and alpha-fetoprotein (AFP) tests, are conducted to estimate the risk of certain genetic conditions, including Down syndrome, in an unborn baby.“Early detection is not simply about making a diagnosis. It gives parents time to understand what the findings mean, consult a genetic counsellor and consider what to do next,” Dr Polipalli said.