This is a science that is going to change the way we look at medicine,” Dr Somnath Chatterjee, chairman and joint managing director, Suraksha Clinic and Diagnostics, told The Telegraph Salt Lake minutes before taking the stage to inaugurate a scientific session on Advances in Genetics and Reproductive Health. “Almost everything is possible today. You can grow cell lines very easily, hold clinical trials…” he explained.
The programme was taking place at Swabhumi and featured three international experts who spoke on the evolving landscape of prenatal, post-natal and pre-implantation genetic testing.
“If you look at the number of publications and start-ups, India would be among the top three in the world after China and the US. The central government has built genomics institutes across the country. There are also so many private research groups coming and working in this field. India is one of the best places to be at this moment. The infrastructure in our labs is as good as anywhere else in the world. Tata Memorial Centre and IIT Bombay have discovered CAR-T-cell therapy. That is something unique and we are so proud of that.”
Suraksha, he pointed out, has got equal numbers of medical doctors and technologists. “The technologists are among the best in the country. This should fill up a large void in pathology,” he said.
But, Dr Chatterjee said, he was unsure about the level of awareness among medical professionals and the general public about advances in genomics. “This session will serve as CME (continuous medical education). The three scientists will talk on the subject of fertility/ infertility. This is a wonderful opportunity for domain knowledge gathering,” he said, as doctors in related fields took up seats in the audience.
The three scientists who took the stage were Dr Michael Richardson, senior director, APAC, Yourgene Health, Alain Rico, senior product manager, LSG, Thermo Fisher Scientific, and Dr. Xin Yue Chan, product specialist (reproductive health), APJ, Thermo Fisher Scientific.
In India, around 70 million people suffer from rare diseases with nearly 50-70% of rare diseases occurring in children, necessitating early intervention and genetic testing.
As of 2025, the birth rate of India is around 25 million births and one in 850 babies is affected by Down syndrome, caused by Trisomy 21, translating to around 30,000 to 40,000 kids being born with Down syndrome every year. Trisomy 13 affects one in every 10,000 to 20,000 newborns globally and leads to Patau syndrome. Trisomy 18, which results in Edwards syndrome, occurs in one out of every 5,000 to 6,000 live births, according to available data. Prenatal genetic testing helps in the identification of the three types of Trisomies and is conducted by taking a blood sample from the mother, analysing cell-free foetal DNA.
Non-Invasive Prenatal Testing (NIPT) was one of the highlights of the speeches. “Current NIPT, using cell-free foetal DNA, can detect common trisomies (genetic conditions where a person has three copies of a particular chromosome instead of the usual two, resulting in 47 chromosomes in total, instead of 46) such as Down’s (T21), Edwards’ (T18), and Patau’s (T13) syndromes — with more than 99% sensitivity and specificity for T21, and slightly lower but still high accuracy for T18 and T13, which is much higher than conventional first and second trimester screening,” one of the speakers said.
In response to the question whether pre-natal testing has reached a level of advancement to completely eliminate risk of the birth of babies with these syndromes, a Suraksha official clarified: “While NIPT is a powerful screening tool, it is not diagnostic and still requires confirmatory testing, such as amniocentesis with QF-PCR or microarray.”
In the future, the official predicted, “as genomic and foetal DNA analysis technologies advance, early and more comprehensive prenatal detection may become routine, reducing but not entirely eliminating the birth of babies with these chromosomal disorders, given biological and ethical limitations.”