Tests for detecting genetic diseases vulnerability becoming a reality

You can now know in advance if you are prone to genetic diseases, that too, within a week and at affordable rates.

The Council of Scientific and Industrial Research (CSIR) on Thursday entered into partnership with PathLabs, one of the largest chain of diagnostic centres in the country, to transfer the unique DNA based technology GOMED (Genomics and other Omics technologies for Enabling Medical Decision) to enable diagnosis of close to 30 genetic diseases. This is for the first time that such tests would be done in the country itself. These tests cover a variety of diseases/disorders such as movement disorders, motor neuron disease and Inborn error of metabolism among others. (See Box)

With seven crore Indians affected by genetic diseases and the diagnostic costs being exorbitant, the CSIR's lab Institute of Genomics Integrated Biology (IGIB) has developed GOMED, carrying out over 14,000 genetic tests and benefiting 4000 plus needy patients in the country in the last few years.

"Now, the testing facility for 27 genetic diseases will be commercially available with Dr Lal PathLabs which is expected to use its wide network to cover large number of patients across the country," said CSIR DG Dr. Girish Sahni adding that in many cases, an appropriate diagnosis is not arrived at, due to lack of general awareness, lack of  access and high-cost of services.

Dr Anurag Mathur, director of the IGIB said that early genetic diagnosis and treatment of a large and increasing number of genetic diseases like Achondroplasia and Turner syndrome could significantly improve the quality of life and outcome of patients. "Till now, we had to send the DNA samples to detect genetic diseases abroad which came with huge bill, ranging between Rs 4000to Rs 45,000, depending on the nature of test.

However, with this indigenous technology, the cost will come down by half while result time will also reduce," said Dr Atul Thatai, National Head(Molecular Diagnostic and R&D) for Dr Lal PathLabs.

Dr Arvind Lal, from Dr Lal PathLabs noted that availability of an accessible, affordable system and equitable access to such services is in keeping with Prime Minister's "Make In India" vision in healthcare sector.