GENETIC TESTING - door to a computer-led medical future 

Tech November 19, 2017 09:26


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AS PEOPLE increasingly take control of their own personal wellness, a unicorn Silicon Valley firm, 23andMe (pronounced as "two-three-and-me"), has focussed on creating a personalised health profile and care program based on customers' genetic data.

A blend of science and computational biology has allowed the company to provide individualised genetic and heath information individually to people, making 23andMe the pioneer in direct-to-consumer genetic testing services. 

The two main categories of DNA testing services are those seeking a customer's ancestry, and those compiling health data for each individual customer.

Fah Sathirapongsasuti, senior scientist at computational biology at 23andMe, said that their direct-to-consumer genetic testing service allows people to buy a testing kit set online or from a physical outlet, such as Best Buy and Target. Then they spit into the kit set before sending it back to the company and waiting for genetic testing results.

The service comes with two testing options: ancestry tracing and providing health information. So far, the company has collected genetic data from nearly three million people, a database that enables them to create value-added information that further personalises the report sent back to customers. 

"We utilise our genetic database to predict something or to create a model of something, such as the potential of their being some disease, or to find the pattern of some diseases, for each individual," said Fah.

The service is available in the United States, Canada, and some countries in Europe.

He said the beauty of the process lies in computational biology, in which a computer empowers the calculations far beyond that possible from classic biology, helping reduce times and costs for people to discover and compute meaning from genetic data. 

Just 15 years ago, genetic sequencing took both a long time and great cost to analyse a DNA sample - about US$3,000 (Bt98,510) to $3 billion to put together one genetic profile. Today's approach - focusing in on identifying only the approximately 1 per cent of human genes that holds the majority of genetic variation between individuals, rather than sequencing the whole gene - has reduced time and costs by orders of magnitude. 

Now the service charge is only $100 for ancestry information, and $200 for a combination of ancestry information and health data. The health data could include sensitive information, such as predicting the likelihood of that person getting Alzheimer's disease (a form of dementia involving protein misfolding that can be predicted in advance through genetic data) and Parkinson's disease.

According to the latest market study released by Technavio (a leading global technology research and advisory company), the global direct-to-consumer genetic testing market is expected to grow at a compound average growth rate (CAGR) of almost 12 per cent between 2017 and 2021. And 23andMe were ranked as a leader in this market.

Technavio's research analysts ranked 23andMe, LabCorp, Myriad Genetics, Quest Diagnostics, and Personalized medicine as the top vendors in a report titled "Global DTC Genetic Testing Market 2017-2021".

Fah said that the beauty of their genetic database is that the company has a valuation of $2 billion, which made it easy to raise funds of $250 million recently. Most of that funding will be invested in personalised medicine, which the company views as the future for human health and based on genetic data optimisation, and also to grow its core competency through building the genetic database.

"From statistics, [we know that] only half of approved drugs are working for people, and they are working for less people or sometimes only one drug in 100 is working," said Fah. "Meanwhile, medicine doses are often not accurate. Genetic data will solve these painpoints of drug efficiency and drug accuracy."

Genetic data can help to find drugs to target specific genetic issues. Having seen the potential business opportunities, two years ago the company began developing personalised medicines, and now has seven medicines under development. 

"The drug development process is totally long, expensive, and with promises of failure sometimes," said Fah. "Only one in 10 drugs actually go into a clinical trail. It costs an average of around $1 billion to develop one drug. The cost should be less than this."

He said within the next 10 years, the company would have a drug approved and on the market. With almost three million genetic profiles in the database, he said, it can find "super human" examples and develop personalised medicine. Further, the company aims to increase its genetic database up to 10 million in the next five years. 

The drug development "is not spun off, but is a business expansion, from providing simply genetic information for individual service to create personalised drugs that target a specific gene," said Fah.

He said the company has a total of 300 staff, with half overseeing the website and database management, while the rest are scientists and work in product development. The sensitive nature of direct-to-consumer genetic testing requires clear communication to help people understand the service and avoid confusion and panic.

Only 20 people work directly on computational biology, in a sense the very soul of the company and the output of the valuable information that so much depends on. This new field applies computer science, statistics, and mathematics to problems in biology. Fah sees it as the new field lying between computer engineering and biology, a thrilling zone of rich potential where computer engineering enhances biology itself.