India shares a huge burden of genetic and rare diseases across the world. As per the Organization of Rare diseases in India (ORDI), 1 in 20 Indians is affected by a rare disorder. Statistics show more than 7,000 rare diseases are known and reported worldwide; from these approximately 80 per cent are known to have a genetic predisposition. In the recent years, genetic tests, one of the tools to detect and manage such diseases along with other ailments is gaining popularity in the country. These tests are mainly into oncology, reproductive health, predictive and pre-symptomatic testing and ancestry and they are usually done to confirm or rule out a suspected genetic condition and the probability of the development of a genetic disorder or the same being passed on to the next generation.

According to a study report by Market Research Future (MRFR), the global genetic testing market is set to reach a compounded annual growth rate (CAGR) of 11.50 per cent, worth over $22,800 million between 2019-2024. Of this, the prescribed genetic testing segment is expected to be over $21,600 million by the end of 2024. Interestingly, these tests which used to cost above Rs. 2 lakhs with results being procured from abroad, are priced around Rs 3,000 to Rs 60-70,000 per test.

One such test is Noninvasive prenatal testing (NIPT) which is done to determine the risk that the fetus will be born with certain genetic abnormalities. Financial Express.com reached out Dr. Kirti Chadha, Chief Scientific Officer, Metropolis Healthcare Ltd. and she highlighted the importance of such tests, scope of genomics in India, genetic abnormalities among others. Excerpts:

What is Noninvasive prenatal testing (NIPT)? Why is it conducted?

Non-Invasive Prenatal Testing (NIPT) test analyses small fragments of fetal DNA, called cell-free DNA, that are circulating in a pregnant woman’s blood with the goal of determining the risk that the fetus has certain genetic abnormalities. When used appropriately, these tests offer a non-invasive approach for prenatal testing and may provide useful information to assess the risk that a fetus has (or does not have) a genetic abnormality. Worldwide, the estimated incidence of Down Syndrome is between 1 in 1,000 to 1 in 1,100 live births. In India alone, it occurs in approximately 1 out of 830 live births, as per the Down Syndrome Federation of India. Maternal first and second trimester screening helps diagnose this condition and other chromosomal disorders…