ICMR’s affordable test kits boost diagnosis of genetic blood disorders in India

New Delhi: Simple and affordable point-of-care (POC) test kits, developed by scientists at the Indian Council of Medical Research (ICMR), are enhancing the diagnosis of genetic blood disorders like Haemophilia A, von Willebrand disease (VWD) and sickle cell disease (SCD) in the country.

Haemophilia A, VWD, and SCD are serious inherited bleeding disorders, which often go undiagnosed because the testing is expensive and only available at a few specialised hospitals.

India bears a significant burden from Haemophilia A. Estimates suggest around 136,000 individuals are affected, but only a small fraction are diagnosed and registered.

While the prevalence of VWD in India is estimated at 1 per 12,000 in some regions, limited studies suggest a 10 per cent prevalence among inherited bleeding disorders.

In the case of SCD, the disease is particularly prevalent in India, especially among the tribal population (57 per cent), though it also affects non-tribals (43 per cent).

“We have now multiple tests that are made in India and can diagnose blood disorders. That is something we all should be proud of,” Dr Manisha Madkaikar, Director, ICMR-Centre for Research, Management, and Control of Haemoglobinopathies (CRMCH) in Chandrapur district of Maharashtra, told IANS.

ICMR-National Institute of Immunohaematology (NIIH) developed a POC test kit for diagnosing Haemophilia A, VWD, which can also be used at primary health centres (PHCs), bringing diagnosis closer to the people who need it most.

Notably, “the POC test costs just Rs 582 per patient, while the current lab-based tests cost around Rs. 2,086. Using this kit could help detect over 83,000 undiagnosed cases,” Madkaikar said, adding that the kits can “save the health system about Rs 42 crore — three times cheaper than the current method”.

These tests are being integrated into the national health programme at the PHC level in different states.

“Using the cost-effective POC kits at PHCs and other local health centres can help India find and treat bleeding disorders early, improve patient outcomes, and cut healthcare costs dramatically,” the senior scientist said.

In addition, “the World Federation for Hemophilia has also shown interest in procuring these tests for deployment in countries where the disease is prevalent,” Madkaikar said.

Further, to support the fight against SCD, ICMR-NIIH in Mumbai and CRMCH in Chhattisgarh have been officially chosen by the government to test and approve new diagnostic kits.

“So far, they have checked and approved 30 different kits, including simple tests that can be done on the spot (like finger-prick tests); lab-based tests like HPLC; and tests that detect the disease at the genetic level,” said Madkaikar, adding that these test kits may play a key role in the national screening programme for SCD that targets a population of 7 crore in the country.

While the initial manufacturer’s quote for the diagnostic test was Rs 350 per test, a comprehensive analysis by ICMR determined that POC tests for sickle cell disease/trait among the high-risk population in India would be cost-effective if procured at Rs 100 per test or below.

Subsequently, the new kits validated by ICMR-NIIH are priced below Rs 50 per test.

“When the national sickle cell elimination mission was to be launched, we had only two point of care tests, which were recommended under the nation, and both of them were paid outside, and the cost of that was nearly 350 rupees,” Madkaikar said.

“But now multiple indigenous companies have come up with their point of care test. We now have different tests, right from solubility to point-of-care to molecular — all made in India and easily available,” the scientist said.

IANS