For Genes that Fit

 Taslima Khan        Print Edition: Feb 3, 2013

NAVIGENE GENETIC SCIENCE
LOCATION: Mumbai
BUSINESS: Genetic diagnostics and research
FOUNDED IN: August 2012
LED BY: Rishi Dixit, Vrushali Joshi
COOL QUOTIENT: Screens babies to detect genetic defects early, so they can be effectively managed

The name sounds innocuous, but Maple Syrup Urine Disease is a deadly genetic disorder. It is inherited, and those affected cannot break down certain proteins.

Vrushali Joshi, Chief Technology Officer at genetic diagnostic firm Navigene Genetic Science, has personally seen 40 to 45 cases and says it is one of the most common high-risk diseases in Indian babies. "The urine of the baby smells sweet, like maple juice. It can cause mental retardation or even death within five to seven days of birth." About 50 per cent of the babies she saw with the disease died.

Other life-threatening disorders among newborns include Methylmalonic Acidemia, which can cause breathing problems, brain swelling, stroke and coma; and Biotinidase Deficiency, which can lead to developmental delays, hearing disorders and eczema.

While testing for genetic disorders to rule out inherited health problems is yet to catch on in India, in the United States, the government spends billions of dollars providing such screenings.

Bacteriologist and physician Robert Guthrie began it in the late 1960s. Today, private companies such as PerkinElmer also offer such screening of newborns. In India, Navigene is one of the early movers in genetic screening of babies. The company was cofounded by Joshi and Rishi Dixit, 33, last year. It collects urine samples of newborns from hospitals and paediatric clinics across six major cities and tests them at its lab in Thane, Maharashtra. The test results are released in 48 to 72 hours. The samples are tested for as many as 110 possible genetic disorders, which are medically known as Inborn Errors of Metabolism or IEM. "Genetic diagnostics for newborns is at the stage at which stem cell banking was five years ago," says Dixit, who tested 600 samples in November 2012 and is targeting 15,000 samples in 2013.

The potential market is huge, given the number of babies born in India, though the chances of tests revealing abnormalities is just about two per cent. "India produces over 51 babies per minute, the highest in the world," says Surojit Nandy, Co-founder at investment firm IncuCapital, which has invested in Navigene. "As awareness improves, the number of tests can go up to two million samples in a year from less than 30,000 currently."

Navigene is also counting on increasing affordability as a driver of growth. There are different testing packages, ranging from Rs 5,500 for screening for 110 disorders, to Rs 2,000, which checks out the eight most common disorders. If a sample tests positive, counselling is provided to parents after which paediatricians follow up with how to manage the problem through diet changes, among other things. "Genetic disorders can only be managed, not fully treated. But awareness at the earliest stage helps a lot," says Dixit.

He is targeting Rs 20 lakh in revenue by March 2013. But there are bottlenecks. "These tests are unlikely to become part of the medical protocol in India at least in the short run because of accuracy concerns," says Dr Balbir Singh, Chairman, Department of Cardiology, Medanta Medicity Hospital, Gurgaon.

"Doctors are advising parents to opt for genetic screening of babies only when there is a high risk of the baby inheriting critical diseases because of the family history." One of the biggest challenges for Navigene will be to prove the accuracy of its tests.

Another challenge is the lack of experienced talent in the market, but that is also an opportunity. "Big hospital chains would prefer to outsource these tests to companies such as Navigene because of the lack of expertise and low volumes - few people currently opt for these tests," says Nandy.

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