Smartphones Could Help Fuel Personal Genomics Revolution

Editor's note: More information on this topic is available from our sister publication EETimes.

After claiming in January that it brought the cost of sequencing a human genome to $1000, Illumina Inc. has set its sights on a consumer product. The company aims to deliver a chip that plugs into a smartphone, bringing genetic medicine to the individual.

The smartphone will become "a molecular stethoscope," said Mostafa Ronaghi, Illumina's chief technology officer, speaking at the Imec Tech Forum in Brussels, Belgium. "We will not need a primary doctor in the future, you will get tested [at home or in a clinic] and go directly to a specialist -- I believe it will happen in five to seven years," Ronaghi predicted.

In a year-ago interview with the Wall Street Journal, Eric Topol, MD, made the prediction, "The fact that consumers will have this ability to have themselves--their genome sequence, their lab tests, their tissues--digitized on their smartphones and their social networks will reboot the way doctors interact with patients."

Topol is currently the director of the Scripps Translational Science Institute (STSI; La Jolla, CA). STSI is a leader in translational genomics and for harnessing digital, or wireless, medical technology for individualized health care that is based on the known genetic factors influencing health and disease and that takes advantage of advances in digital technology for real-time health monitoring.

In a June 2 interview on Medscape.com, Topol spoke with  Anne E. Wojcicki, co-founder and CEO of 23andMe. That company, one may recall, was ordered by FDA to stop claiming its genetic testing services have any utility in the "cure, mitigation, treatment, or prevention of disease." Wojcicki says, "...we need to spur all of these ethical, legal, and social debates about how to use this information. It is really just about getting the public aware of it."

Although it's still early days for genomics, costs and lives are being saved applying the technology to cancer treatments and pregnancy care. Illumina's Ronaghi says about $12 billion of the estimated $20 billion genomics industry is in oncology. The next biggest slice, according to Ronaghi, is $5 billion in systems for researchers, followed by a rapidly growing $2 billion segment in reproductive health and $1 billion in other emerging applications.

Illumina is said to be one of the leaders in genomics. In its last financial quarter, the company generated $421 million in revenues and $60 million in profits for sales of its family of sequencing systems.