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Existence Genetics Ramps up for Widespread Test Service Launch, Eyes Whole-Genome Sequencing

By Tony Fong

NEW YORK (GenomeWeb News) – Even before whole-genome sequencing becomes a reality in the clinical setting, one Los Angeles-based firm is betting its future on the promise of the technology.

To hear Existence Genetics Founder and CEO Brandon Colby tell it, whole-genome sequencing is only two years away from widespread clinical applicability, and when that day arrives, Existence will be ready to pounce on the market opportunity.

Existence bills itself as a predictive medicine company and offers genetic tests and analysis to patients through their doctors. While the company's business is currently based on DNA microarray technology, that will change when whole-genome sequencing dips below $500, making it cheap enough that many patients will be able to access the technology, he said.

Currently, the firm, which was founded in 2005, offers its tests on a chip format that was developed in-house. The technology, called Nexus Gene Chips, tests for SNPs, copy number variations, insertions, and deletions. The chips are available in a variety of panels for different disease groups and cover more than 500 diseases, including common diseases such as cancer and heart disease, as well as carrier diseases such as cystic fibrosis and Tay-Sachs disease, and rare ailments such long QT syndrome.

The chips contain biomarkers culled from scientific literature that have demonstrated use for disease prediction. Unlike other personal genomics firms that use gene chips that are manufactured for research purposes, the Nexus chips, which are manufactured by Illumina, were designed specifically to detect for disease risk and carrier status, Colby told GenomeWeb Daily News this week.

The tests, which are saliva based, are available to patients through their physicians. Depending on the panel, the chips cost $350 to $500 for the physician, who typically mark them up 10 percent, Colby said. The doctor administers the test to a patient, then sends it to Existence, which performs an analysis in its CLIA-approved laboratory, and then sends a report to the physician. Based on the report, the physician will counsel the patient on what steps to take.

The tests are paid for completely out of pocket by patients.

According to Colby, a key part of its service is that the reports are written in a language that healthcare providers can understand so that they can integrate the information into clinical decisions they make.

"We learned that even words like genotype and allele and odds-ratio were confusing [to physicians]," he said. "Ninety percent of doctors said they just had no idea or a very small idea of what those words meant."

In fact, that has become a major focus of translating genomics research into clinical practice, and at last week's Burrill Personalized Medicine Meeting, numerous speakers alluded to the fact that because doctors have limited training in genetics, they may never fully embrace genetics tests.

Existence's testing service remains in the beta stage and is available through a limited number of physicians in Southern California as a proof of concept. Colby declined to say how many tests the company runs in a given time period.

The physician market is notoriously difficult to penetrate and slow to adopt new technologies, but according to Colby, provider interest in Existence's Nexus solution has been high. There is little doubt that the age of genomics medicine is approaching, and many healthcare providers are eager for technologies and solutions that will allow them to make sense of genetic information and then incorporate it in their clinical decisions, he said.

Most doctors have either never used genetic testing in their practices or if they have, have found them impenetrably esoteric. To ease concerns they and their staff may have, Existence has provided free trials to providers to experience what it believes is a simple testing process.

Existence also provides clinical data on the Nexus Gene Chip and references to studies in its patient reports to the doctors that describe how their results were achieved. By doing so, the doctors can evaluate the accuracy of the results.

"Having that there is really key in helping them feel comfortable that all the information being provided is actually coming from the literature and we're not making anything up," Colby said.

Next month, Existence will officially launch the Nexus Gene Chip test and service by making it available to all doctors in Southern California. The company also has plans to introduce the products nationally and internationally down the road, though Colby declined to elaborate.

Today Chips, Tomorrow Whole-Genome Sequencing

Colby, however, is clear about the future for Existence, and it's not in gene chips. Instead, the full potential of Existence, he said, will be realized when whole-genome sequencing can be done for less than $500, opening up the technology to a whole new market.

"Because we only see about a two-year timeframe for this, we don't see the need to become experts in gene chip manufacturing and we actually would like to … differentiate ourselves so that we move away from the testing industry," he said. As companies such as Illumina and Complete Genomics continue to build out their whole-genome sequencing capabilities and lower their pricing, "there's a race that's going to commercialize whole-genome sequencing," Colby said.

"Eventually … we see ourselves disengaging from utilizing gene chips completely, disengaging from all lab work, and instead solely being an analysis company."

The chips for now are a way of capturing patient DNA information so that a physician can map out a course of prevention or management of diseases to which a patient may be predisposed, and a way of building up its network of physicians for its future business model.

In its future iteration, Existence would not provide any sequencing services. "Once we can get the data from another source, from whole-genome sequencing that's cost-effective for adoption ... [then] we become the point between the sequencing company and the healthcare professional," he said.

He added that currently the space for such sequencing analysis is largely unpopulated, and though mass amounts of data are being generated by sequencing firms, the data is raw and sheds dim light on disease phenotype. In addition to Illumina and Complete Genomics, Caris Life Sciences offers genetic testing services through its Target Now program directed at cancer tumors.

Colby, however, differentiates his firm from others, which he calls laboratory testing firms, by saying Existence is a clinical genetic analysis company that provides a much deeper and richer array of genetic data information as well as important associated information.

"Instead of just looking at one disease or one medication effectiveness/adverse reaction/dosing after another, this technology links together everything that is related and allows us to perform integrated analysis and allows our reports to contain fully integrated information, thereby allowing us to convey genetically tailored prevention and treatment information for almost all diseases we assess," Colby said.

Its approach allows the company to investigate an individual's genetic information throughout different time points in his or her life and to provide targeted data based on different disease indications.

Such an approach is the key to scalable recurring revenue generation. "While other companies are experts in providing laboratory genetic testing and whole-genome sequencing, Existence Genetics is an expert at providing the clinical genetic analysis component," he said.

Even if and when the company moves out of the genetic testing market to become an analysis firm, Existence has no plans of cutting out the physician from the picture to become a direct-to-consumer firm.

DTC genetic firms have recently attracted attention from both regulators and legislators, who are considering what kind of oversight the industry requires. Amid concerns about how DTC genetics companies were marketing their tests, the US Food and Drug Administration recently issued warning letters to 14 companies. Congress has held hearings on the issue, as well, and the Government Accountability Office in July issued a report criticizing DTC tests and their marketing efforts.

To Existence, the healthcare provider "is key for a lot of prevention [and] clearly understanding what's important, [and] what's not," Colby said. "Different medications, different screening exams, even different lifestyle modifications — you need a healthcare professional to be part of the team … so that [patients] really get the most out of this information."

However, FDA has said that it plans to regulate more rigorously all laboratory-developed tests, and this week, an official with the agency said that it is currently drafting plans on how to oversee such tests. As such, Existence's current tests would be subject to FDA oversight.

Colby said that he expects the agency to provide clear guidelines and regulations for LDTs soon, and when they do, "we really do look forward to working with them. The big question is how they're going to regulate and what the timeline is … but once both of those are worked out by the FDA, we're going to be front and center and willing to work with them and make sure we comply."