Texas-based MolecularHealth is in the process of building out a CLIA-certified laboratory and plans to begin offering a comprehensive cancer panel and exome sequencing tests in early 2014.
The company was originally founded in 2004 in Switzerland and focused on providing software analysis and clinical IT. Two years ago it opened US headquarters in New York, and earlier this year it established its next-generation sequencing laboratory in The Woodlands, Texas.
CEO Lloyd Everson told Clinical Sequencing News that the company's next-gen offerings would focus on cancer tests to help oncologists with clinical decision making.
Initially, the tests will be run on Illumina's HiSeq 2500 system, but as the lab grows, it could acquire additional instruments. "I think we'll evolve," he said, adding that the team has also been evaluating Life Technologies' Ion Torrent PGM and Proton systems.
The firm's initial products will include a panel comprising 500 to 600 genes associated with cancer, including those associated with disease prognosis and progression, genes relevant for both approved and investigational therapies, and genes to which mutations confer drug resistance. Additionally, it will also launch an exome sequencing test.
Everson said that the firm's bioinformatics expertise will be its distinguishing characteristic, "interpreting the data from next-gen sequencing testing and putting it to use."
The company has developed automated software that can generate a clinical report within one day, he said. Coupled with sequencing on the 2500, he anticipates turnaround time of one to two weeks.
"Many of these patients are patients with recurrent cancer and don't have the time to wait for a test," he said. "We think timing is of critical importance."
Everson anticipates that patients with recurrent and rare cancers will be the initial customers, and that over time as the technology proves valuable, nearly every cancer patient will be genomically typed.
MolecularHealth will face competition from other well-established firms and academic institutions offering similar products, such as Foundation Medicine, which recently published an analytical validation of its test in over 2,000 patients in Nature Biotechnology.
"Foundation Medicine is a great company," Everson said. "But I think there's a lot of room in this space. I don't think one company has to be dominant."
Additionally, he said that MolecularHealth is seeking to distinguish itself with its decision support software tool. The panel will also include over twice as many genes as Foundation's panel, he said.
Everson said that the company is also developing its own database where it plans to keep track of variants of unknown significance so that over time it can eventually determine whether those variants are clinically relevant or not.
"Our approach is to make sure we form our own database and longitudinally follow patients, and as [the database] becomes mature, to do cohort analyses," he said. Following patients will be key, he said, in order to study clinical outcomes of patients, how their cancers change over time, and to better understand variants of unknown significance. "It's not easy to do, but it's essential," he added.
Everson said that the company is still working out many details, such as what to do with incidental findings, or findings that could be relevant for a patient's family members, such as germline mutations in the BRCA1 and BRCA2 genes.
"It's an ongoing debate," he said. "Those predictive markers, whether a BRCA mutation or whatever, have certain ethical concerns."
Looking ahead, Everson said that as costs come down and more is understood about different mutations, the field will move toward more comprehensive sequencing as well as "panomic testing," to incorporate information not only from the tumor genome, but also the transcriptome and proteome, and also data from circulating tumor cells or cell-free tumor DNA.
Studying cell-free circulating tumor or tumor cells will "be an important piece," Everson said. "When you meld that data into a longitudinal approach with a patient, it becomes an extremely powerful tool."