Even as genetic-sequencing technology becomes cheaper and faster, the adoption of precision medicine, which decodes a patient's DNA to treat them in a more personalised, targeted way, remains limited in India. What will it take to turn it into an everyday reality?
Scientists working on genome sequencing at the MedGenome lab in Bengaluru
Image: Himadri Sharma for Forbes India
By the time Devina Bose, 65, noticed a lump in her breast, the tumour had advanced to stage four. Tests revealed that the cancerous cells were hormone receptor positive, which means they needed estrogen and progesterone to grow and spread, but HER2 negative, referring to a growth-promoting protein found on breast cells.
She was immediately put on hormone therapy drugs to lower her female hormone levels and make them less available to the growing cancer cells. Bose, a high court judge whose name has been changed, responded well to the treatment, says Dr Pramod Kumar Julka, director of oncology at Max Hospital in Delhi and former dean of AIIMS.
But to better understand how likely the tumour was to grow and spread, Julka suggested genomic sequencing. A “liquid biopsy” or sample of blood was sent off to a specialised lab to look for pieces of DNA from the tumour cells circulating in Bose’s blood. The results revealed a mutation in a gene called PI3K found in about 30 to 40 percent of breast cancer patients. Luckily for Bose, a drug called Alpelisib, developed by Novartis to specifically inhibit the PI3K mutation in advanced breast cancer patients who are hormone receptor positive and HER2 negative, was approved by the FDA only two years ago. She’s recently started the medication; clinical trials have found it to cut the risk of death or disease progression by a third.
If not for genomic sequencing which is the key to precision medicine or idea of treating patients in a more personalised, targeted way, Julka would have relied on the cookie-cutter approach of surgery, radiation, and a blast chemotherapy to rein in Bose’s cancer. “No two patients with the same stage of disease respond to the same treatment,” says Julka. “Precision medicine is not the future, it is the present.”