NEW YORK (GenomeWeb) – Translational Software said this week that AkesoGen, a genomics-focused contract research organization that services the academic, pharmaceutical, biotechnology, and agricultural sectors, has selected its Genomic Insight Solution (GIS) to interpret and report on the results generated from a comprehensive pharmacogenomics-based genotyping service that the CRO is preparing to launch.
AkesoGen provides biomarker profiling and genomics services for both research and clinical trial use. Its list of services includes DNA and RNA extraction, gene expression profiling and array-based transcriptome analysis, genotyping and copy number variant analysis, methylation profiling, biobanking and sample management, and developing libraries for sequencing studies. The terms of its agreement with Translational allowed the CRO combine information from company's proprietary pharmacogenetic knowledgebase with the molecular data from the planned test to provide clinicians with easy to understand analysis and treatment guidance for tests focused on chronic pain, cardiovascular, and psychiatric conditions among others.
Mercer Island, Wash.-based Translational Software emerged from stealth last year to sell its internally developed tools to clinical laboratories that have pharmacogenetic tests on their menus, helping them take the genetic outputs of their tests and turn them into actionable reports for physicians. It offers its solution under a software-as-a-service model — helping labs avoid installation, operation, and maintenance costs — that can be integrated with existing lab infrastructure such as laboratory information management systems.
Underlying Translational's GIS are proprietary algorithms and a curated knowledgebase of pharmacogenetic literature from journals, symposia, academic research centers, and other sources, which are used to interpret test findings and make treatment recommendations and guidelines to physicians. The software captures genotype and copy number calls from genetic tests and converts them into standard forms prior to processing; to translate results into genetic traits or haplotypes; to map genotypes to the most likely clinical phenotypes; and to link genes with associated drugs. The company's knowledgebase can provide physicians with data on about 15 genes such as CYP2D6 and CYP2C19, and their associations with about 105 drugs, Translational's Founder and CEO Don Rule, told BioInform this week.
The company is now working on adding capabilities to its software that will enable it to interpret results generated by genetic tests for oncology and provide treatment guidelines for physicians based on the published literature. Rule said that the company hopes to make these available to the market sometime in the next several months.
Translational's first customer was Genotox Laboratories, whose researchers used the GIS system to make sense of and report on data from chronic pain tests. They also contributed feedback based on their experiences with the tool that Translational used to improve the solution. Its customer list has grown quite a bit since then, according to Rule. Currently, the company counts 60 laboratories as customers offering mostly PCR-based tests, but some are starting to develop and use next-generation sequencing-based ones as well, he said. Early this year, it also inked a deal with Common Cents Systems, a privately-held LIMS developer that allowed the companies to combine Common's ApolloLIMS with Translational's PGx software solution.
Translational continues to see little to no competing software solutions in the marketplace, according to Rule. He noted that Partner HealthCare subsidiary GeneInsights offers some capabilities for PGx-based testing, but informatics for PGx testing is still a largely untapped market compared to other domains such as oncology testing, he told BioInform. He attributed the current slow pace of market growth, at least in part, to uncertainties about reimbursement for PGx tests.
This past summer GenomeWeb reported on coverage challenges faced by Pinpoint Molecular, a lab that specializes in CYP450 testing. Pinpoint set up shop in South Carolina hoping that Medicare contractor Palmetto GBA would be willing to reimburse its molecular diagnostics, which the company claims has plenty of data supporting their utility. But the strategy didn't work, according to Jennifer Ross Pinpoint's chief operating officer, since Palmetto denied most of the lab's claims.
Ultimately, Rule believes that more vendors will eventually begin developing software for the space as personalized treatment moves toward the norm. "No matter who you talk to they say this will be standard of care," he said. "How we get there is a little uncertain at the moment, but we all know that's going to be true and that it will be common for people to have a [test] panel [as] part of their medical record."
For its part, Translational is "working toward that as fast as we can … and it's kind of fun to be at the forefront," he added.