Meet Geneticure and Dr. Ryan Sprissler
Geneticure is a pharmacogenetics testing company that takes personalized medicine to the next level. Their unique focus on the physiology and combinatorial pharmacogenomics specific to each disease has helped them solve the problem of a trial-and-error approach to treating hypertension, the leading preventable cause of death in the world.
Dr. Ryan Sprissler is Geneticure's co-founder and Chief Scientific Officer. With more than 15 years of experience in genetic assay design and testing, he is a member of the Association for Biomolecular Resource Facilities, the Association for Laboratory Automation, and the American Association for the Advancement of Science, and serves on the board of the Shay Emma Hammer Research Foundation.
While drug-metabolizing and transport enzyme panels are important in pharmacogenetics, there is evidence that in highly multifactorial diseases such as hypertension, other genetic factors exist that strongly affect a patient's response to therapies. Dr. Sprissler and his team wanted to understand the genetic determinants of hypertension therapy response, and their role in the variability of treatment effectiveness.
The Geneticure team required a platform that would simplify the genetic testing process with easy-to-interpret data, fast turnaround times, and broad genetic coverage. They needed a targeted, affordable technology to develop and validate their hypertension test.
Dr. Sprissler remarks, "We wanted to lean it out so [our solution] was as cheap as possible to get this assay out to the most people as possible. We wanted to keep it really focused on these functional and predictive variants."
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After evaluating different solutions, the Geneticure team went with the MassARRAY® System. Dr. Sprissler remarks, “It’s a pretty slick instrument that has worked out quite well for us.” The MassARRAY System provided timely and accurate multiplexed analysis for the team’s 17 biomarkers in a single workflow, critically supporting the development of their laboratory developed test (LDT).
After nucleic acid extraction, the subsequent system workflow involved 3 simple steps: (1) multiplex PCR, (2) target sequence detection, and (3) data analysis. This workflow enabled a fast turnaround time, as Dr. Sprissler notes: "The turnaround time is important. We can't have lots of hands-on time."
In addition to a simple workflow, Geneticure required flexible biomarker analysis of SNPS and INDELS. The MassARRAY System’s SpectroCHIP® Array addressed this critical challenge, allowing laboratories to genotype up to 50 genetic variants per reaction. Dr. Sprissler comments: “The number of variances we were testing fit nicely with the MassARRAY platform…we can use TaqMan assays to look at these SNPS, but INDELS posed a problem. We want to get it all in one assay, and that can be very difficult using other technologies.” The MassARRAY System helped the team achieve targeted testing.
In the final step - analysis - the MassARRAY System's integrated software interpreted the data and generated a user-friendly report. Dr. Sprissler comments:
"It shouldn't go unstated that the data-analysis piece of this is quite nice. We can set thresholds such that if the genotype call meets the threshold, we have very high confidence. If it doesn't, then it's queued for re-run. We don't have to spend a lot of time picking apart the raw data."
As an additional benefit, the affordability of the MassARRAY System helped Geneticure's laboratory keep costs low. "The cost was really great…it allows us to batch and drive costs down," said Dr. Sprissler.
With the power of the MassARRAY System, the Geneticure team developed their Geneticure Hypertension Assay, for use as an aid to clinicians in determining therapeutic strategies within the Joint National Committee standard of care guidelines. The assay allows the clinician to prescribe more patient-specific therapy based on genetics, versus the more traditional trail-and-error approach.
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