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InVitae Gearing up for Launch of Multi-Gene Targeted Sequencing Test for Inherited Diseases

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MOUNTAIN VIEW, Calif. – InVitae, a company specializing in using targeted next-generation sequencing to diagnose rare genetic diseases, is preparing to launch this year a $1,500 test to assess 270 inherited conditions.

Randy Scott, former Genomic Health executive chairman and InVitae CEO, said at a personalized medicine conference here this week that the company is currently beta-testing this offering with a select group of physicians, anticipating a commercial launch of the test in the coming months.

Genomic Health last year spun out InVitae, combined it with the genome annotation firm Locus Development, and took a minority stake in the joint entity (PGx Reporter 8/15/2012). In the future, Genomic Health has the option to increase its investment in the firm.

InVitae's platform gauges germline mutations associated with 270 conditions, particularly those linked to inherited cancers. Following the initial launch of the testing service later this year, InVitae hopes to update the offering every six months with an additional set of genetic tests, Scott said at the meeting.

When Genomic Health decided to launch InVitae as a subsidiary last year, some industry observers questioned the company's decision to focus on rare genetic conditions. "When we first started talking about these sorts of opportunities a lot of people said rare diseases are rare and you really should be focused on common diseases," Scott said. "In fact, the whole concept of common diseases is an oxymoron. There is really no such thing. Diseases are common because there are multiple ideologies that drive the commonality and all diseases are rare diseases."

InVitae estimates that nearly 100 percent of the population carries mutations linked to rare genetic conditions. "We just don't know which ones, but our families are nonetheless at risk for those rare genetic conditions," Scott said. Moreover, he highlighted that between 30 million and 40 million people in the US are suffering from an undiagnosed genetic condition.

"Genetic testing is one of the largest markets in the world," Scott noted. "And our goal at InVitae is to bring genetics to the masses."

Keeping this in mind, InVitae is building its business infrastructure to deliver its tests to patients on a global scale. The company is in the process of building its first laboratory outside the US, so it can develop and market tests in different countries according to local regulations.

"This is a global business. The US is 0.3 out of 6 billion on the planet. We're actually a minor player in this game," Scott said. "By having international labs you can then release information comprehensively on a country-by-country basis depending on local [regulations]."

Scott wouldn't elaborate on the lab or its location until its official opening later this year. However, he explained that the international lab is necessary to comply with the unique legal, regulatory, patent, and other restrictions for a particular region. "For example, our international lab will not be subject to US-specific gene patents in order to better serve ex-US markets on a country-by-country basis where gene patents don't apply," he noted.

In developing its commercial testing service, InVitae also began building its own database of gene-disease associations. The firm aims to establish "one of the world's best curated databases of clinical variation," according to Scott.

For three years, the company's researchers scoured the literature to identify the various genes associated with a host of Mendelian disorders, and then documented the clinical evidence on the disease-linked markers. InVitae now has more than 440 fully curated genetic conditions and a database of more than 24,000 clinically relevant variants.

While the data the company collects in its curated Mendelian clinical variants database will remain proprietary, InVitae is planning to share data on clinical variants that come out of commercial testing as part of a grassroots movement called "Free the Data." While there is currently no formal structure to this project, there are number of participants, including labs at Emory University, Partners Healthcare, and the University of California, San Francisco, that are similarly minded and are sharing gene variant data in this manner.

"Free the Data is targeted toward making clinical variants identified in the course of commercial genetic testing available for use by other clinical labs. InVitae plans to release variants of clinical relevance identified in our clinical laboratory during routine testing to the public as part of good medical practice," Scott told PGx Reporter. "Other corporate information, R&D and proprietary databases and algorithms that go into developing our clinical assays will be maintained as proprietary InVitae R&D information."

Labs participating in the Free the Data initiative are doing so in an effort to improve the collective knowledge of all healthcare stakeholders – doctors, industry players, and academic researchers – on gene-disease associations. This is exactly the kind of effort that some industry observers have been pushing for, noting that as advanced genomic technologies become more integrated into mainstream care, the number of variants with unclear or unknown associations to disease will increase.

"In industry we want to horde information and … not share it, but I think the companies that succeed in the future of this genomics revolution will be willing to share information and begin to put together a global marketplace for how we're going to share and utilize this information with everybody," Scott said at the meeting.

In a recently published paper in the European Journal of Human Genetics, Duke University's Robert Cook-Deegan and others wrote about molecular diagnostic firm Myriad Genetics' decision to stop publicly sharing its BRCA variant data linked to breast and ovarian cancer and keep that information as part of a proprietary database of gene-disease associations. By keeping this variant information a trade secret, coupled with its extensive patent suite, Myriad is denying researchers, physicians, and patients access to "basic scientific and medical information" that would improve their knowledge of variants linked to cancer and enable more accurate diagnoses," the study authors charge (PGx Reporter 11/2/2012).

They recommended in the paper that national health systems, government-run databases, and scientific journals require companies to share the variant data so that their tests can be independently validated. A less severe alternative would be if disparate players in the healthcare sector came together on their own to share data, as seems to be happening through Free the Data and some other efforts in the same vein

"The published literature is often several years behind new genetic discoveries and many newly discovered variants may never be published. Some genetic conditions may have hundreds, even thousands of variants with newly discovered variants a frequent occurrence," Scott told PGx Reporter in discussing the Free the Data effort. "By agreeing to share clinical variants, every lab benefits in helping patients and physicians to get the best information on whether a particular variant has been seen before and whether it may have medical significance."

Finally, when launching a new medical product on the market, physician education and engagement will be critical to growing test adoption. In this regard, InVitae is planning to build an online portal through which doctors can learn about and order tests. The company has launched a test catalogue that will soon be updated to reflect all 270 diseases that the test addresses.

"We're setting up networks of physicians who feel empowered to use this information on behalf of patients," Scott said. "So we're moving from a world of genomic testing to a world of genome management."

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