BENGALURU: Rukhsar Bibi (name changed), 41, was diagnosed with acute myeloid leukemia (AML), a kind of blood cancer. To understand the effects of chemotherapy and bone marrow transplantation and to predict a relapse, doctors from Advanced Medical Research Institute (AMRI) hospital in Kolkata, where she was being treated, sent her bone marrow samples to a genetic testing lab in Bengaluru.
Next generation sequencing (NGS) genetic test was conducted for 57 genes associated with leukaemia and the results found presence of mutation in two genes -- IDH2 and CEBPA. A mutation meant change in structure of the DNA from what is considered normal otherwise, and indicated a possible relapse.
Next Generation Sequencing is a method of genetic testing which is lesser known in India. Checking for relapse is also not a widely-followed practice in the country. The unique aspect here, according to experts, is that one can predict if a relapse is going to happen or find that there is no relapse at present.
“Understanding the mutation status initially acted as a guide in clinical decision-making. The role of NGS is increasingly turning into standard care in leukaemia. Apart from monitoring the possibility of a relapse, it helps in understanding whether the disease is going to be aggressive or not, helping the doctor decide the course of treatment,” Dr Vidya Veldore, principal scientist, oncology, MedGenome Labs, said.
Rukhsar’s samples were sent four times to the lab at different stages of treatment to consistently check for the two mutations. It was confirmed that Rukhsar would not have a relapse. After over a year of tests, she was found to be cured of leukaemia this March.Treating oncologist, Dr Joydeep Chakraborty from AMRI Hospital, said, “This case demonstrated the utility of NGS testing in different types of leukaemia and how it helps medical oncologists in decision-making and management of patients, thus improving the survival rate and their quality of life.”
The trend of genetic testing is picking up slowly in the country, according to Dr Sandeep Nayak, senior consultant, surgical oncology, Fortis Hospital. “We recommend genetic testing for most patients, especially those in the fourth stage of cancer. I send around 10 reports per week to different labs in the city,” Nayak said.
Dr Nanda Rajaneesh, breast and obesity surgeon, Sakra World Hospital, emphasised that it is not recommended for all cancer patients and depends on the disease as well as the patient.“With breast cancers, the BRCA genetic test can tell us if there is a possibility of cancer spreading from one breast to the other, or if there is a risk of some other woman in the family getting it, but these are not very beneficial for the patient to spend thousands of rupees on, when they are already under financial burden owing to cancer treatment,” Rajaneesh said.“In advanced cancer cases, it can help them live longer,” she said.
Cost is, however, an issue, doctors said, as it can range between `20,000 and `65,000 per test.
assessing risk
Hollywood star Angelina Jolie had a family history of breast and ovarian cancers. She opted for genetic testing and found that she tested positive for BRCA1, a gene which put her at significant risk of breast cancer. She undertook preventative double mastectomy and later removed her ovaries and fallopian tubes as well, to reduce the risk of developing ovarian cancer.
WHAT IS Ngs?
Next Generation Sequencing (NGS) is a platform that has enabled the sequencing of thousands to millions of DNA molecules simultaneously.