Skip to main content
Premium Trial:

Request an Annual Quote

Existence Genetics Rolls out Array-based Screening Service for Rare Disease Risk


By Justin Petrone

Existence Genetics, a Los Angeles-based genetic testing company, recently introduced a new service that relies on microarray technology to screen customers for their risk for around 1,000 rare diseases.

According to CEO Brandon Colby, the company's Rare Disease Screen complements its array-based Wellness & Longevity Panel, which has been its main offering to healthcare professionals and health and wellness organizations.

The rare disease service is offered through doctors and other healthcare professionals and is based on an Illumina-manufactured custom genotyping array that is processed by Laboratory Corporation of America. LabCorp then sends the data back to Existence, which analyzes it and reports it back to its clients. These reports include not only risk information, but suggestions on how to mitigate that risk.

"We provide clinics, hospitals, any type of health and wellness organization with a way to access their clients' genes and provide very high-quality services," Colby told BioArray News this week.

He was quick to distinguish Existence from direct-to-consumer genetic testing companies such as 23andMe, focusing on the firm's relationship with healthcare professionals rather than the consumers themselves.

"This is not direct-to-consumer. We do not do e-commerce. We are doctors ourselves, so we are not focused on circumventing the healthcare institution, but rather focused on utilizing it and empowering it with this information," Colby said. Though some DTC companies do provide customers with counseling on how to make lifestyle changes to avoid an identified predisposition to a certain disease, Colby stressed the differences between those companies and his own.

"The product is completely different and we are not doing a superficial analysis of genes just because it is fun or a novelty. We are really focused on doing an extremely deep and comprehensive analysis of a person's genetic information in order to help prevent a person's disease," he said.

The Chip

Existence's screening offerings are based on a single array, the Nexus DNA chip, a customized BeadArray that is processed using the San Diego vendor's Infinium II genotyping assay. According to Colby, Nexus DNA is a 12-sample chip, with each of the dozen arrays on the chip consisting of about 10,000 variants, "every single one of which has clinical significance."

Existence's decision to use a custom chip rather than a catalog array was part of its overall philosophy of creating a service that provides clinically relevant genetic information.

"The off-the-shelf chips that Illumina and Affymetrix or any of the other vendors were offering were not providing the clinically useful information that we needed," said Colby. "They skipped over a large number of the variants that we had identified" as relevant, he said.

According to Colby, Existence is currently working with Illumina on a second version of the Nexus DNA chip that will "most likely have a substantial component" of the exome content the firm has made available on its newly released Infinium HumanExome BeadChip (BAN 11/18/2011), and will also have "our current [chip's] data, which is extremely useful for giving a much more comprehensive analysis of disease risk," he said. The new chip will be out next year, he said.

Colby said that Existence is looking into next-generation sequencing data, but noted that the technology's cost and associated data-analysis challenges have kept the firm from adopting it as a testing platform.

"One of the main issues with sequencing is that they are acquiring massive amounts of data and then they have no way to do the clinical interpretation of tertiary analysis," said Colby. "And sequencing of $5,000 is too expensive for most people."

Still, by familiarizing itself with the data, Existence hopes to have the analytics ready so that "when sequencing really becomes available, we aren't starting from scratch." Ultimately, Colby predicted the company would move to sequencing in coming years, "depending on price and if clinical accuracy is substantiated more."

[ pagebreak ]

The Service

Founded in 2005, privately held Existence has spent the past six years developing an offering that would provide its clients with clinically actionable information. Part of that time was spent developing a database of genetic mutations relevant to health and wellness.

"Instead of rushing into the market with all these GWAS findings, we decided to think about the product more, about how patients and doctors were going to utilize this information," said Colby. "We started to look at the body of genetic information that was out there, and how the clinical interpretation of that could be useful. That took a few years of really looking at the research, understanding the different gaps in the databases that were out there in terms of the associations between genetic variants and diseases."

In the end, Existence concluded that there "really wasn't a good database that summarized all of that information." The result is the firm's internal database and Reflex Analysis tool, which it uses to conduct a genetic assessment of disease risk while also analyzing associated co-morbidities, preventions, and treatments.

Using data obtained with its Nexus DNA array, Existence offers customers a number of assessment panels that vary according to comprehensiveness and price. Existence's Wellness & Longevity Panel, which the company also refers to as its full-genome analysis, is available for $749, though Colby said the panel is priced at $499 through the end of the year.

This panel assesses the risk of rare recessive diseases and common preventable diseases. The panel also provides a pharmacogenetic assessment of customer response to medications such as warfarin, Plavix, statins, and aspirin.

The new Rare Disease Screen is priced at $299 and analyzes 1,065 genes related to 1,217 phenotypes. The company's tests are not reimbursable, and customers are expected to pay out of pocket.

Colby said that Existence has a partnership with fitness club chain Equinox to offer its tests to customers, adding that customers can obtain information about exercise-induced muscle damage risk, fatigue, and the risk of developing osteoporosis.

Customer saliva is collected using DNA Genotek collection kits and mailed to LabCorp for testing, which is usually accomplished in three weeks.

The information is made available to the customer via two reports, one for the patient and the other for the healthcare provider. Prevention information is included, as are suggested lifestyle modifications, over the counter medications, prescription medications, complementary or alternative therapies, screening exams, and lab tests.

Colby said that the firm's panels are available worldwide, though the bulk of its customers are in North America and its relationships with European and Asian centers are at the "business development stage." The company does not operate in New York, however, since it does not have a license to offer its tests in the state.

Have topics you'd like to see covered in BioArray News? Contact the editor at jpetrone [at] genomeweb [.] com.