Genetic testing company InVitae said last week that its 211-gene sequencing-based assay that screens for just over 260 genetic conditions is now being offered to early-access customers.
In a presentation at Cambridge Healthtech Institute's Clinical Genome Conference in San Francisco last week, CEO Randy Scott said that the company is working with 20 to 30 early-access physicians.
The $1,500 assay screens for a range of conditions including 101 carrier conditions, 53 neurological disorders, 80 cardiovascular diseases, and 50 cancer-related conditions. "Almost all of these are rare genetic conditions that are well-characterized," Scott said.
The test has a two-week turnaround time and is run out of one of InVitae's two CLIA-certified laboratories in San Francisco and Santiago, Chile on Illumina's HiSeq 2500 instrument.
Scott said that InVitae plans to update its test every six months to a year, adding more disorders to the menu, in order to drive costs down, with the updates being akin to a software release. In its next version, the company plans to include copy number variations, and by the end of 2014, it plans to include 1,000 disorders with a price tag below $1,000.
Working out of its three locations in San Francisco, Santiago, and Palo Alto, Calif., the firm has around 65 people on staff, around half of which are software engineers, said Scott. "We have about one software engineer for every scientist. We think that's about the right ratio of what it's going to take," he said.
Since its launch in 2012, InVitae has raised $47 million from investors that include Genomic Health, Genesys Capital, and Baker Brother Advisors.
InVitae was originally founded in 2012 as a wholly-owned subsidiary of Genomic Health (CSN 2/8/2012). Six months later, the company announced that InVitae would merge with privately held genome annotation company Locus Development and operate as a standalone entity (CSN 8/15/2012).
InVitae's San Francisco laboratory currently has an annual capacity of 20,000 tests but is continuing to grow, said Scott. Its clinical laboratory in Chile will essentially be a "mirror image" of its San Francisco facility, he said. The Chilean facility was developed in collaboration with Pablo Valenzuela, who founded Chiron.
Scott said that the company has been building a curated clinical variant database, which currently comprises over 500 conditions with 32,000 clinically relevant variants. The goal is to "convert all 3,000 or so Mendelian, inherited genetic conditions into a single assay at a low cost within three years," he said.
Currently, its 211-gene assay includes the exons, exon boundaries, and known intronic or intragenic regions with pathogenic variants. The next release will also include relevant copy number variants, and Scott said the company is continuing to work on improvements to capture "hard to do" regions.
With its early-access partners, the company is working on a new website that allows physicians to order the test in its entirety, or to pick and choose genes related to specific conditions. The price is the same, regardless.
Scott said he envisions a future in which, for example, a patient is diagnosed with cancer, and on a single test the physician can identify the relevant cancer-related genes and also other variants that may impact how the patient is treated, such as how the patient responds to anesthesia or variants associated with cardiomyopathies that might impact treatment choices, as well as information that may be relevant for the patient's family members.
A key principle of InVitae is the sharing of genetic information, said Scott. Aside from developing a genetic test, Scott said that InVitae plans to facilitate patient-consented research programs that enable patients to connect with other patients with similar conditions, as well as provide researchers with access to data that could lead to better diagnoses and understanding of rare genetic conditions. This project is still in its development phases.
"Genetic information is more valuable when shared," Scott said. There's a "growing movement for patients and clinical labs to share results on clinical variation." This enables better outcomes for patients and is beneficial for research. Additionally, having more accurate information enables a better assay design for InVitae, he said.
As such, following the US Supreme Court's ruling that human genes are not patentable, the firm joined the Free the Data! initiative to expand the pool of publicly available information about the BRCA1 and BRCA2 genes, which are associated with hereditary breast and ovarian cancer, and make the information available in open databases including the National Center for Biotechnology Information's ClinVar database.
"As a biotech industry, we need to get out of the thinking of, 'how do we hoard that information and file patents?' to, 'how do we share that information?'" Scott said.