Cheaper, faster DNA tests make diagnosis better

Mumbai: Delhi IT professional Salim Khan's considers his brush with genomics at KEM Hospital in Parel a clinical marvel. He had painfully accepted that medicines would not paintings for his incurable neurological situation, myasthenia gravis. But seven years into his struggling, a sponsored genetic take a look at costing just Rs 20,000 revealed that the doctors in Delhi hadn't recognized his disease minutely sufficient to arrive on the right drugs.
"Khan has congenital form of myasthenia gravis whose symptoms could be relieved with an inexpensive bronchodilator called salbutamol," said Dr Sangeeta Ravat, head of KEM Hospital's neurology department. Khan hasn't had an assault in a 12 months, and has gained weight.

Affordable, speedy DNA sequencing has not best changed Khan's lifestyles, however that of 8 different sufferers at KEM's neurology department during the last 12 months. "Previously, we didn't have such an easy and affordable access to genetic tests. It would take months for an accurate diagnosis," said Dr Ravat.

Genomics is inflicting a revolution in medicine and healthcare globally "and it's happening now", said an Australian analysis paper published on Friday.

The Garvan Report said genomics is already riding a exceptional paradigm shift in health practices and results. "In 15 years, the cost of reading an individual's DNA sequence-their genome-has plummeted from hundreds of millions of dollars to around the cost of a shoulder MRI," the record said.

V P Ramprasad of Medgenome Labs in Bengaluru identified that 15 years in the past, genetic assessments from India have been despatched out of the country, price about Rs 1 lakh, and the consequences would take four to six months. Today, better era and infrastructure manner assessments are finished in the neighborhood, take two to a few weeks, and cost lower than half. "Genetic tests are an integral part of disease prediction in India," Ramprasad added.

Genetic mavens say India is one of the top 5 nations in assessments, and the $40-million Indian genetic diagnostic market is estimated to develop through 15% over the following couple of years. And the benefits are being felt throughout.

Seven-year-old Renu suffered over 30 epileptic fits every day and took 5 other anti-epileptic pills. The daughter of a farmer from Shegaon in Maharashtra's Buldana district, she would close her eyes and seem to fall asleep every short time. "If this happened when she was standing or sitting, she would fall and hurt herself. Her school asked us to keep her back at home as she would keep falling," said her father, P Shelke.

When the Shelkes have been referred to KEM Hospital seven months back, Dr Ravat's team in an instant sought a genetic take a look at. Three weeks later, the take a look at results showed that Renu had protein deficiency known as Glut 1 (Glucose transporter kind 1) that used to be inflicting the 'fits'. "Instead of five medications, Renu only needed a ketogenic diet that is low on carb, has moderate protein, and high fat," said Dr Ravat.

Today, Renu has resumed college and will get an epileptic have compatibility as soon as in a month, if at all. "We had spent Rs 2 lakh on doctors and tests. But it is the Rs 20,000 that I spent on the genetic test that has made all the difference," said Shelke.

Khan could not agree more. "I have a job in Mumbai that I attend every day without feeling too weak to move and I am living alone for the first time in my life, thanks to the right diagnosis by KEM doctors and the right medication," he added.

But Dr Ravat provides a caveat. "Not every genetic test will lead to a drastic change in treatment plan. Many a times, doctors have to tell their patients that they have a genetic abnormality for which there is no cure or medication."