Latest trends might push genomic sequencing to the mainstream

BOSTON—The time is right for more and more people to have their genome sequenced, said Yaron Turpaz, PhD, MBA, CIO of Human Longevity, speaking at Bio-IT World on April 7.

Turpaz’s company does just that and he said four meta-trends—reduced sequencing costs, computational power, machine learning and value-based care—are converging and driving growth in this area.

The only way to enable discovery is to contribute data to a knowledge database, he said.

Human Longevity clients spend $25,000 to go through a series of tests and exams, including a full-body MRI, and have their genome sequenced. Turpaz acknowledged that is a hefty price tag, but said 30 percent of clients have significant findings. “If you wait 10 years for the symptoms, it may be too late.” Plus, a healthy person can’t walk into a hospital and get a full-body MRI. Doing all the tests in isolation would add up to much more, Turpaz said.

The company has six to eight people walk through its doors every week. Based on the analysis, the client can decide how often to come back and for which tests.

He explained the value of the company’s services through a case study of a California patient. A woman with colon cancer was given just three weeks to live by all of her physicians. Human Longevity’s testing found a specific mutation of her tumor and after three treatments of the right drug, she was in remission, he said. She now undergoes weekly liquid biopsies to monitor for signs of recurrence. “Every second counts. We have to continue to improve this and move to real-time analysis.”

Turpaz’s goal is for insurance companies to realize the value which could drive down costs or at least provide some coverage. The sequencing serves as a proof of concept of what can be done. “We don’t envision it as the only solution. Once people realize the value, including the cost-saving elements, insurance companies will pick it up.” The sequencing can save a lot of money.

Turpaz said the company is in discussions with several children’s hospitals to get every pediatric patient’s genome sequenced. That can only be done, he said, if insurance companies recognize the value over time. Ideally, the genome of both parents and any siblings also would be sequenced.

He noted that a person’s genome is not static—there are changes as we age. Also, a person’s microbiome can change daily and through other events. If someone traveled to Asia and back, for example, his or her microbiome will be different and some of those changes can trigger disease.

When asked about privacy and security of the data, Turpaz said companies like his have to be really responsible about what is shared in the public domain. There’s a fine line, he said, between protecting individual privacy and building aggregated data to build the right models that allow for the sharing of accumulated knowledge rather than raw data that risks privacy.

“The more walls you build, the more ways people will find to get around them,” he said, advocating for different strategies from enforcement to protection. He expects this field to adopt some lessons from other industries. “We are not the first to share data that needs to be secure although it is a different scale and complexity. We can leverage a solution that has already been developed.”