The Business of Genome Analysis and Interpretation

Abstract

Nearly 100 companies—and counting—are developing software-based products to serve research scientists by taking the raw data and turning it into a form that a scientist/researcher can use to analyze data. Their customers include pharmaceutical companies, research institutes, academic labs, and other genomics companies.Station X is one of the newest entrants into this realm of genomic analysis. Founded in late 2010, the goal of this Redwood City, California, based company is to develop software its clients can use to discover and validate biomarkers in clinical R&D. “We are a platform for next-generation sequencing analysis with a particular bent on clinical and translational research—helping people who are using large scale genome information, whether it be transcriptome, whole genome, or exome— discover, validate, and turn new markers into clinically relevant markers,” says Richard Goold, Ph.D., cofounder and Station X CEO.Working closely with one of its investors, Genomic Health, Station X has built its GenePool product to help researchers conduct primary translational clinical research by analyzing and visualizing large-scale genomic data, including genome cohorts. “Our partnership with Genomic Health has given us access to real-world genomic data and experts to develop our platform,” adds Tod Klingler, Ph.D., cofounder and chief scientific officer. GenePool is designed to operate with multiple sequencing platforms.Cancer is also the first focus for Station X’s technology, but they plan on developing genomic software tools to enable discovery and validation of the causes of rare inherited diseases. Named after the location where World War II Allied cryptographers operated, Station X recently secured its series B funding to advance its genetic code-cracking services.Cambridge, Massachusetts-based Knome is seeking to operate in both the world of software development and clinical genome interpretation. Boldly marketing itself as the “human genome interpretation company,” Knome started life as an interpretation services provider. Its first client was the third person in the world to have his genome commercially sequenced. Since then, Knome has branched out into the interpretation world by leveraging its platform services base.Knome’s software tools have been aimed toward academic researchers, primarily cancer researchers, who are assessing the genetic basis of diseases, as well as pharmaceutical companies who want to use genomic information to determine the patient population for a particular drug. Starting with one research institution, the 75 person company now collaborates with a dozen pharmaceutical companies and two dozen research institutions, including the National Cancer Institute and Johns Hopkins.Within weeks, the company expects to launch a clinical version of its software called knomeCLINIC. “We’re outfitting medical researchers with a clinically tailored enterprise version of the whole genome interpretation platform that our scientists use in-house for academic clients,” explains Nathaniel Pearson, Ph.D., director of research at Knome. “Doing so brings key tools to clinics, who can rarely afford to develop their own platforms, to help them interpret whole genomes at scale.” Knome does not act as the testing laboratory directly. Instead, the program delivers software medical institutions can use to make better decisions based on genomic data.Clinically, Knome aims to service the cancer marketplace and to help detect the source of unknown genetic diseases—a reason why Knome finds that cancer institutes and children’s hospitals are among the first adopters of translated genomic data. “The big impact is going to be when you have the whole genome, you can run all the genetic tests you want in software,” adds Jonas Lee, chief marketing officer at Knome. “It takes clicks in software to run tests, not days or weeks in a wet lab. You will soon be able to run complex panels on hundreds of genes in seconds—it will be fast, and it will be cheap.”Clearly, this is an area of genome science that will enjoy explosive growth in the next decade, which will hopefully push the breadth and pace of pharmaceutical discovery and personalized patient care.