For genome services, India must be put on the map

Prajwal Hulluraiah is engrossed in a game on his mother's mobile phone and wouldn’t look up to talk to you. But that’s where his similarity with any other 11-year-old ends.

Twice a month, Prajwal checks into the Indira Gandhi Institute of Child Health (IGICH) in Bangalore for a six-hour procedure to replace the enzymes in his body made deficient by Gaucher disease. The treatment costs Rs 75-80 lakhs every year. The cost increases with age as the amount of enzyme needed for therapy is proportional to a patient’s body weight.

Prajwal is fortunate that his treatment costs are covered by the charitable access programme of the Boston-based pharmaceutical firm Genzyme. Most sufferers of genetic diseases in India aren't as lucky.

Common genetic conditions in India include haemophilia, thalassemia, Down syndrome and neural tube defects. Research shows that 5.3% of all people born have a genetic disorder, when followed up to the age of 25¹. By extrapolation, of the 26 million children born in India every year, about 1.3 million could have genetic diseases. Data on overall prevalence of genetic diseases in India is unavailable but there are some studies on prevalence of individual disorders. For instance, 1 per 3500 births have beta thalassemia², 1.4 per 1000 births have Down syndrome³ and 4.5 per 1000 have neural tube defects⁴.

Screening for risks

One factor that increases the likelihood of genetic disease is consanguinity or breeding between members of a family⁵. In communities without consanguinity, endogamy is quite the norm in India, where marriages happen within an extended but closed community. Endogamy can also amplify the risks of genetic disease⁶. Prajwal was born from a consanguineous union, but his parents underwent genetic diagnostics and counselling before having their second child.

Diagnostics and counselling are offered through various means; by screening couples for the probability of their passing on a disease to offspring, prenatal testing of the foetus for mutations, newborn screening (NBS) and subsequent child screens. Newborn scans allow afflicted kids to start with therapy (in diseases where it is possible) at the earliest.

Mandatory newborn screening is the norm in many Western countries such as the Britain, the United States, Japan and also closer to home in Korea and Thailand 6 . In India, mandatory NBS was launched in 2008 in the state of Goa. After five years, it was discontinued due to funding issues⁷. In 2013, Kerala launched an NBS programme which still runs⁸. A pilot screening programme was set up in UP recently and the Haryana government has expressed interest in starting state-wide NBS^{9, 10}. However, efforts are mostly scattered and a national programme for newborn screening remains elusive.

This means most genetic conditions remain undiagnosed at birth, and lives are blighted by health problems and hardships. Some eventually manage to get a diagnosis at a later stage but the path is often beset by misdiagnoses.

This was the fate of Prasanna Shirol's daughter, who was born with Pompe's disease 16 years ago. By the age of one, her parents had noticed certain delays in her milestones. But it wasn’t until she turned 7 that her condition was correctly diagnosed. The Shirols had a tough time to figure out what was wrong with their daughter. Prasanna, who worked in the Hubli district in Karnataka, had to make so many trips to Bangalore to see doctors that he exhausted all his leave and eventually lost his job. He now runs the Organization for Rare Diseases India (ORDI ), which works for advocacy and assistance of rare disease patients like his daughter.

The other problem for genetic disease patients is a lack of specialist doctors. A 2015 study found there were about 40 practicing geneticists in India¹¹, far too few to meet demand.

Private diagnostic centres growing

In the absence of adequate government facilities, privately owned genetic diagnostic centers are being set up across India. Apart from providing diagnostics for newborns and those with rare genetic diseases, these companies offer a range of other genetic tests. Hyderabad-based diagnostics company Mapmygenome allows you to shop online for genetic tests to figure out whether you’re a 'warrior or a worrier', whether you have a power gene or not, and what your likelihood of getting diabetes or cardiac disease is. Several other companies such as GeneBox and Xcode are also offering similar tests. But, are such tests affordable and relevant for the mass market?

“These type of prediction tests are not recommended yet. In addition to the uncertainty of predictions, many a times they cause more harm than good,” says Shubha R Phadke, head of the medical genetics department at Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow. “Whether you do these tests or not, preventive measures like balanced diet and exercise are essential for everyone,” she says. Such, direct-to-consumer services efforts have been debated worldwide, and often criticized¹².

Some companies are taking another approach to genetic diagnostics. Hiranjith GH, the director of corporate planning at Medgenome, another Bangalore-based diagnostics company, says they don’t accept any sample which has not come through a clinician, as the firms wants to focus on investigating “acute or chronic conditions”. He also acknowledges that regulatory guidelines for firms like his are at a “nascent stage”.

Lack of regulation

A lack of adequate government regulation makes it an open playing field for these diagnostic outfits. Though several claim to abide by international standards, the test reports cannot always be trusted.

Meenakshi Bhat, a consultant in clinical genetics and professor at the Centre for Human Genetics, Bangalore, said she has learned which diagnostic centres in India to refer patients to. “In nine years of practice in India, I have learnt where to refer and where not to,” she says, comparing the industry to that in the UK, where she practiced for several years before coming to India. “Irrespective of where you gave a sample for testing – England or Scotland – a certain standard could be expected.”

Unreliable test reports increase the cost and time taken for diagnosis. Take, for example, the case of four-year-old Mohammed Hassan, who has an undiagnosed rare disease. In Februrary 2016, he came into Bhat's genetics clinic at IGICH with a genetic test report that had no correlation with his symptoms forcing Bhat to request another test.

Genetic diseases have been neglected and mislabelled ‘rare diseases’ for too long. Diagnostics and medication for genetic diseases should get the same priority as other diseases. Experts call for universal access to reliable genetic diagnostics in India and emphasise that this will only be achieved if doctors, the government and the private sector chose to step up together.