News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel

News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel
Sign In

Research team at Illumina believes that consumers are ready to access their own gene sequencing data, along with medical lab test data and other diagnostic information

In the field of next-generation gene sequencing, San Diego, California-based Illumina, Inc., (NASDAQ: ILMN) is moving expeditiously to expand into related markets. One such business initiative is to put gene sequencing at the fingertips of consumers via an app and a smartphone.

Although it is expected to take several years to make this feasible, the fact that Illumina is starting to spend money today to serve such a consumer market is a significant fact for pathologists and clinical laboratory executives monitoring developments in the gene sequencing sector.

The company announced plans to develop a chip that plugs into a smartphone and brings genetic medicine to the individual, reported EE Times in a story it published recently. Illumina says it wants to transform smartphones to “molecular stethoscopes” that could eliminate people’s need to visit primary care doctors.

Research Explores Marriage of ‘Wet and Dry Science’ in Gene Sequencing

So how will a chip deliver genomic capabilities to smartphones? That’s the question Illumina researchers are attempting to answer. But it’s not easy.

The Illumina team will be challenged to find biocompatible interfaces between “wet and dry science,” observed Mostafa Ronaghi, Illumina’s Chief Technology Officer in the EE Times article. He explained that some gene sequencing applications will require as much as 10 milliliters of blood.

Wet and dry science describes the methods necessary for processing samples containing genetic information and silicon technology, explained Fierce Biotech IT in the story it published about Illumina’s plans to develop smartphone-compatible capabilities for consumers.

To date, Illumina has demonstrated digital microfluidics on silicon. By July, it hopes to launch devices that can assay as many as 16 samples in silicon using the acquired technology, Ronaghi told EE Times.


Pictured above is Mostafa Ronaghi, Ph.D, Illumina’s Chief Technology Officer. He spoke earlier this year at an Imec Tech Forum in Brussels, Belgium, informing media and attendees that he is optimistic about launching a DNA chip, within the next five to seven years, that can plug into a smartphone and provide consumers with genetic information. (Photo copyright Illumina.)


“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,” declared Ronagi in the EE Times article. “I believe it will happen in five to seven years.”

Expert Predicts Consumers Will Have Ready Access to Medical Lab Test Data

Another expert, Eric Topol, M.D., made a similar prediction about a year and one-half ago. He is Director of the Scripps Translational Science Institute (STSI) in La Jolla, Calif. He believes that consumers will eventually have ready access to their medical laboratory test data and similar diagnostic information.

“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 told The Wall Street Journal in a story.

Topol is a physician considered to be at the forefront of a wireless transformation in medicine. “We’re all essentially surgically connected to our smartphones, and we’re still in the early stages of their medical potential. But they could be real threat to the medical profession,” Topol said in The Wall Street Journal interview.

Challenges in Going Mobile with Gene Sequencing Information

Illumina describes itself as a developer, manufacturer, and marketer of life science tools and integrated systems for large-scale analysis of genetic variation and functions. The company says its systems are aimed at studies to realize personalized medicine. At the end of last year, Illumina declared that its new human genome sequencing technology system, the HighSeq X Ten, is capable of sequencing a whole human genome for about $1,000. (See Dark Daily, “Illumina Asserts its Claim of a $1,000 Whole Human Genome, But is Gene Sequencing Ready for Use by Clinical Laboratories?”, February 21, 2014.)

Complex Genetic Technologies Must Be Harnessed

The company’s big DNA sequencers use techniques like colorimetry and take 30 steps to extract genetic data and run it through, pointed out in its story about Illumina’s plans to develop products that consumers can use with their smartphones.

Such a process will “have to be hugely simplified on mobile devices,” noted the story. It also explained that Illumina researchers are on a mission to explore electrical, optical and other means for on-chip DNA sequencing.

Still another challenge experts foresee is cloud connectivity. Some methods of genomic sequencing generate about 100 Gbytes of data, especially when proteins are involved, the researchers reportedly said. But Ronaghi told EE Times most of Illumina’s work will focus on nucleic acids. “We are focused on genomics and feel most questions can be answered by genomics,” he said.

Can Outcomes Improve If Patients Access Their Genetic Data?

Will consumers respond to the availability of genetic information? Surveys indicate that most people want genomics to answer cancer treatment questions. About $12 billion of the $20-billion genomics industry market is focused on oncology; another $5 billion goes to researchers’ systems; and about $2 billion to reproductive health, EE Times said in its report.

One implication to Illumina’s declared plans to provide consumers with the capability to access their personal genetic information on a smart phone is the possibility for pathologists, molecular Ph.D.s, and clinical laboratory scientists to provide consultative services to consumers.

— Donna Marie Pocius

Related Information:

DNA Chip Will Plug Into Handsets

Illumina Working to Turn Smartphones Into ‘Molecular Stethoscopes’

The Wireless Revolution Hits Medicine

Illumina is Developing a Smartphone Chip That Could Replace Primary Care Doctors

Illumina Asserts Its Claim of a $1,000 Whole Human Genome, But is Gene Sequencing Ready for Use by Clinical Pathology Laboratories?