The liquid biopsy market has exploded in the last year. This week (June 22-24), hundreds of researchers and test providers will descend on San Francisco to discuss the latest advances in the field.  With the Liquid Biopsy Summit in our backyard, we are excited to network with organizations seeking solutions to manage patient-derived genomics data and for interpretation and report generation.

As the Summit organizers noted in their overview, there remain considerable hurdles in data interpretation which must be solved before liquid biopsy technologies can be implemented for broader routine applications. Interpretation is a complex process that is made all the more complicated with new data types.

A modern clinical genomics report usually reports variants observed from sequencing a subset of genes that are known to be associated with a disease or phenotype.  Those associations are determined from a combination of sources such as the primary literature, expert committees and curated databases.  In some cases, it’s also influenced by institutional knowledge, that is to say, by the expertise and experience of the physicians and molecular geneticists on staff. Over time, the accumulated data collected from testing many patients will itself become a rich knowledge base of information vital to interpreting the significance of genetic variations, especially when informed by the patient phenotypic information collected.  

Another important point is that, even though a relatively-small subset of genes might be reported on for a given indication, the actual sequencing might well be performed on much larger panels of genes, or even at the whole exome or whole genome level.  The accumulated genomic data become a tremendous resource in which existing assumptions about genetic associations could be challenged and new associations uncovered.  More specific associations and better diagnostic algorithms will result in a continual improvement in the predictive power of genetic tests – that is the key to having a readily-accessible and dynamic knowledge base for this genetic and phenotypic data.  

The non-invasive nature of liquid biopsy assays also mean they can be performed in longitudinal studies to monitor disease progression and the response to treatment of patients.  This makes it imperative to store test results in a dynamic system that can enable time-based reporting. The platform greatly simplifies the logistical issues involved in dealing with patient derived genomics data and gets clinically relevant information into the hands of clinical testing labs quickly. GenePool handles all major types of genomics data and comes pre-loaded with reporting capabilities for incidental findings and tumor profiling, but its flexibility means test providers can customize GenePool for use with their proprietary gene or variant testing panels and annotations. Through GenePool, test providers can develop custom reports supported by the comprehensive analysis of rich and ever-growing content libraries such as The Cancer Genome Atlas (TCGA), ClinVar, COSMIC, dbSNP, FDA Biomarkers, PharmaADME, Clinical Trials and many others. GenePool also provides a convenient and dynamic way to securely store variants of interest and their associated metadata for updated and/or longitudinal reporting and for investigating the aggregated information.

A number of our customers will be on site talking about their platforms. Circulogene, for example, will present on Thursday at 5pm PST.  Circulogene has developed a unique cell-free DNA test that is capable of detecting nearly 3,000 cancer mutations on 50 well-established cancer-associated genes and can provide information on current FDA-approved treatment options and available clinical trials for the tumor DNA mutations identified. 

We look forward to seeing you in San Francisco and if you’d like to set-up a meeting at the Summit or discuss your data interpretation needs with us anytime, please contact us.