Unlocking the Data of the Human Genome

Mostafa Ronaghi is helping like-minded biotech startups invest in the future of DNA-based technology at Illumina

What do you do when you have a headache? Take medicine? Lie down? Use a therapeutic heating pad? Imagine if you knew the precise reason for the pain and how to treat it.

While it sounds futuristic, Mostafa Ronaghi believes that goal is within reach. The internationally renowned DNA and sequencing expert says that in a matter of years, patients will interact with medicine in new ways, because they’ll be able to easily determine the underlying genetic triggers. “A headache patient will take a simple home test to determine cause, and then treat the headache with the right drug,” Ronaghi explains.

This future will come thanks to genomics—the mapping of the human genome—finally breaking into the mainstream, and Ronaghi has been at the forefront of the evolution for more than two decades. His company, Illumina, manufactures genome-sequencing instruments that allows researchers to study biological systems at new levels, previously out of reach because of the enormous costs. Genome sequencing, or determining the unique order of the three billion DNA bases in a single genome, cost $3 billion the first time scientists achieved it; later that cost went to $200,000. Illumina has brought it down to $1,000.

“As the cost of health care climbs out of control, genome sequencing is one of the most efficient ways to reduce costs and save lives, because we can treat people in more exact ways through personalized medicine.”

Ronaghi, a serial entrepreneur who built and sold four genomic companies before joining Illumina in 2008, has played an integral role in these developments. Today, as the company’s chief technology officer and senior vice president, he’s working to reduce the cost of genetic sequencing even further, integrate and improve diagnostic products, and provide assistance to new startups.

Born in Tehran, Iran, Ronaghi set out to become a doctor but quickly discovered a passion for what was then the emerging field of genetics. While completing his graduate studies in Sweden, he had an epiphany. “I wanted a better understanding of biological systems but found that the biggest barrier was sequencing technology,” he says. “I started focusing on that in 1995, and it has turned into a twenty-year mission to understand the human genome.” Ronaghi worked on developing next-generation sequencing technologies. In 1990, tens of thousands of scientists collaborated around the globe to map and sequence the first human genome. Eleven years and $3 billion dollars later, they finished.

The cost of sequencing a human genome when it was first achieved in 2001


The current cost of sequencing a human genome using Illumina’s instruments


Years it took to sequence the first human genome


Days it takes Illumina’s HiSeq X to run population-scale whole human genome sequencing


Time Ronaghi spends mentoring biotech startups through the Accelerator program


Number of companies Illumina will accept into the Accelerator program in 2015

Now, even with the cost of sequencing genomes drastically reduced, Ronaghi still has his work cut out in reaching his vision for the future: a day when all human beings have their genome sequenced at birth. To realize his goal, Ronaghi will have to increase the efficiency of the process to make it universally accessible and affordable. “As the cost of health care climbs out of control, genome sequencing is one of the most efficient ways to reduce costs and save lives, because we can treat people in more exact ways through personalized medicine,” he says.

Cancer care, for example, currently runs between $25,000 and $1 million per patient per year, but even with that enormous expense, the lives of patients are only extended an average of eight weeks. Destructive drugs often kill the noncancerous cells in the body; some patients die faster than if they had received no treatment at all. Treatment is not specific to the individual, and its effectiveness varies widely. “The work we do can help us corner one of the most deadly diseases on the planet, and we can see cancer become like the treatment of HIV, where patients can live for several decades,” Ronaghi says. A patient with a genetic map has the handbook to their life. A doctor can examine them as well as study their genetic map, and then, based on genome information, prescribe the most applicable, personalized drug. 

Working toward that goal has driven Ronaghi’s time at Illumina. When he joined the company in 2008, CEO Jay Flatley asked him to start the research division, which Ronaghi grew from 8 people to 110 in three years. That expanded division is responsible for bringing  the cost of sequencing one genome from $200,000 to just $1,000 in six years. Ronaghi and his team achieved that by shrinking a ten-year road mapping process to three years, and creating a blueprint for long-term direction and growth through acquisitions.

Ronaghi wanted to establish Illumina’s leadership in the genomics space in order to disrupt the diagnostics industry. He knew that significantly reducing costs would make sequencing more accessible—leading to breakthroughs. That success birthed Ronaghi’s second plan. “We need to develop more integrated devices to make sequencing, sampling, and reporting an easier process that medical professionals can use quickly,” he says, adding that Illumina will offer fully integrated products in the next few years.

The need for affordable devices is driving Illumina’s development and acquisitions. In 2011, the company purchased Epicentre Biotechnologies, whose proprietary sample preparation technology simplifies and speeds up the turn-around time for next-generation sequencing. Two years later, Illumina spent $96 million to acquire Advanced Liquid Logic, a scalable fluidic technology that can automate the workflow of next-generation sequencing.

Ronaghi says his success comes through his dedicated team, which he has built with an eye to diversity. “I have brought in people from various backgrounds and educational experiences,” he says, adding that more than thirty nations are represented in his team. Together, they’ve ushered thirty ideas to product development and twenty to market.

While Illumina tries to unlock the power of the genome, Ronaghi knows it can’t be done alone. “In 2010, after the economic crisis, the number of industry Series-A [round] startups dropped dramatically,” he says. Since Illumina relies on its ecosystem companies to create new genomic-based applications, Ronaghi created the Illumina Accelerator to help promising startups succeed. Today, he spends about 40 percent of his time mentoring young companies, which each receive up to $100,000 from investors and access to sequencing and Illumina’s resources. Other benefits include a line of credit, free access to Amazon Web Services, access to qualified resources, assistance with pitch presentations to investors and company partners, and help from Illumina technicians and collaborators.

In 2014, Illumina selected three companies for its inaugural program; in 2015 the Accelerator will include up to ten companies. And this year, the company announced a $40 million boost to the program from a privately-owned global investment firm, which gives the company the ability to match its raised fund to up to $5 million dollars.

Ronaghi knows firsthand how important this kind of support is, as his own work has been supported by a grant from the National Institutes of Health. “The technology is still new, and there is so much that can be done—so much that can be unlocked,” Ronaghi says. “That’s why I’m still doing this after twenty years, and that’s why we have to keep supporting these new companies who will take us where we want to go.”