The $100 genome will change medicine, from disease diagnosis to treatment

By Yoni Cheifetz and Jonathan Macquitty

When someone is diagnosed with cancer, their doctor will often order a biopsy of the tumor. That tissue will then be screened for a select set of genetic markers, such as BRCA, HER2, and PARP, which will inform what treatments may work best to attack the cancer. Once a patient is in remission, they’ll receive MRI or PET scans twice a year to spot any recurring tumors.

Ultima Genomics and its sequencing technology could change that entire process.

Led by CEO Gilad Almogy, Ultima Genomics has developed a new approach to sequencing that drives down costs and increases throughput so that the entire human genome can be sequenced for just $100.

Although sequencing is already a staple in medical research and care, its wide application is currently limited by cost. Dozens of companies offer genetic sequencing panels that will look at 50, 100, or even 500 genes — but that’s a drop in the bucket considering the 20,000 genes in the human genome. Doctors and researchers are forced to pick and choose which genes to include on panels, because including any more would be a hefty cost increase.

By unlocking the $100 genome, Ultima Genomics will ensure that improving a patient’s health with genetic sequencing is no longer cost prohibitive.

That’s why today we are pleased to destealth Ultima Genomics and its new sequencing technology. Lightspeed Venture Partners co-led the seed round along with Khosla Ventures and has continued to provide significant support to the company across multiple rounds of investments. This has culminated in over $600 million in total current funding. In addition, Lightspeed has provided strategic advice and introductions to help the company build and grow its business.

A smart investment

In addition to potential impact for patients, Lightspeed looks for big ideas from smart founders in markets where it is hard for others to compete, and Ultima Genomics checks all the boxes.

When Lightspeed first invested in Ultima Genomics’ seed round, sequencing the entire human genome was priced at around $1,000. The company is making that possible at a tenth of the price. Furthermore, with its new technology, the company plans to reduce costs even further in the future.

The market is ripe for a new sequencing player to enter the scene; the market opportunity is valued at roughly $5 billion and growing, with only one major competitor. There are other players in the sequencing field, but they’re focused on smaller benchtop machines for researchers, not the high-throughput applications Ultima Genomics is targeting.

What the $100 genome means for medicine

Ultima Genomics’ genetic sequencing technology is a tool that can vastly improve our understanding of human health and fuel true precision medicine.

With regards to cancer diagnosis and treatment, the $100 genome will revolutionize the care ecosystem. Frequent monitoring with low-cost sequencing will help physicians spot cancer earlier, select the most effective treatment, and — most importantly — capture disease recurrence as soon as possible.

MRI or PET scans can only detect tumors once they’ve grown big enough to be visible. By that point, it’s often too late to take meaningful action. But if the tumor’s genome is sequenced and you obtain its unique genetic signature, physicians can look for signs of this signature in routine blood draws. Sequencing is a less burdensome, more accurate option to detect recurrence, and Ultima Genomics is making frequent monitoring by sequencing affordable for the rest of a patient’s life.

Low-cost genetic sequencing can also be applied to population studies to shed light on more complex diseases that often cannot be attributed to just one or a few key genetic mutations as their root causes. Certain mental illness, heart disease, and obesity fall within this category, where we know a genetic link exists because disease manifestations correlate with family histories. However, we cannot identify the responsible elements within the human genome.

That’s because each human genome is very complex, totaling three billion bases that are further complicated by epigenomic modifications on subsets of the bases. One person’s genome doesn’t give much insight into what element within their genome is responsible for a symptom, much less extrapolate the limited insight to another individual with a similar symptom — identifying the genetic signatures for a multitude of complex diseases will require sequencing thousands of genetic codes across populations.

Widespread population studies that can reveal links between genetics, environments and diseases are now possible, thanks to the emergence of biobanks in digital healthcare, advances in machine learning, and the debut of Ultima Genomics’ affordable genetic sequencing platform.

Costs, not technical innovations, have prevented true precision medicine from being applied at scale. Thanks to Ultima Genomics, sequencing technology that was previously expensive will be made affordable, and a new generation of precision medicines will be accessible to more patients.