SimulConsult has received a two-year Small Business Innovation Research grant from the National Library of Medicine to integrate its Genome-Phenome analyzer software with electronic health record systems in order to automate the process of combining information from patients' genetic tests, clinical findings, and phenotype data. The goal of the integration is to make it easier for clinicians to use the information to make decisions about care.
The Chestnut Hill, Mass.-based bioinformatics company, was awarded just under $1 million by the NLM last September to support a second phase of its integration study, where it will work with teams at Geisinger Health System and Intermountain Healthcare to integrate its software with EHRs sold by companies like Cerner and Epic, Lynn Feldman, SimulConsult's CEO, told BioInform. The company completed the first round of testing about a year ago using a $450,000 grant from the NLM and published a paper last summer in the Journal of Child Neurology that described how the addition of its software helped reduce the risk of errors in differential diagnosis and workup for neurological disorders.
Speaking with BioInform this week, Michel Segal, SimulConsult's founder, chairman, and chief scientist, explained that the company would use the grant funding to develop tools and formats to capture clinicians' observations and assessments of patients from the EHRs, and combine this information with test results and other sorts of clinical data in order to home in on a short list of possible diseases and appropriate tests.
"The value proposition for the clinician is [that] they don’t have to do anything twice. We save them time doing what they already do, and we reduce errors along the way," Feldman explained.
SimulConsult plans to launch its integrated solution — which will help clinicians trying to diagnose genetic, neurological, and pediatric rheumatological diseases — next year. It is still mulling pricing options for the product.
Separately, SimulConsult received a $260,000 SBIR grant from the National Human Genome Research Institute last year, which it used to develop, test, and validate new features for the Genome-Phenome Analyzer working alongside researchers from the University of California, San Diego. As part of that project, they developed and tested a so-called gene pertinence metric, which measures and scores the effect that not having access to information on patients' genetic variants has on the differential diagnosis. It enables physicians to make decisions based on the information judged to be most relevant to each patient's case instead of looking at the entire scope of information that they have collected on the patient, Segal said.
That first phase of the NHGRI-funded study has wrapped, and the company is applying for more funding to run a second round of studies that will include developing tools for its system that will enable it analyze copy number variation data. That application was submitted last December.
In addition to working on integrating its product with EHRs, SimulConsult will focus on increasing sales of its software. The Genome-Phenome Analyzer is currently being used in a number of laboratories including Geisinger and now Courtagen Life Sciences, which said this week that it has licensed the software and plans to use it to interpret genetic test data. Brendan McKernan, Courtagen's president, said in a statement that the firm would integrate SimulConsult's software into its ZiPhyr molecular information platform and that together, the tools would "provide greater personalization of patient reports, and enable actionable results for medical providers and pharmaceutical companies looking to optimize treatments and therapy options."