Webinar: Sequence Once. Query Often.

“Sequence today for questions of today and questions of tomorrow.” In a Knome webinar earlier this year, Dr. Corey Nislow of the Pharmaceutical Science Department at the University of British Columbia used these words to articulate the value proposition of next-generation sequencing and explain his vision for utilizing the technology in a progressive pharmacogenomics study his team recently launched. “Sequencing… makes sense now. It’s cost-effective. And it’s particularly cost-effective if you think about this as being one test with one upfront cost, and a lifetime of amortization.”

 Dr. Nislow and other investigators are not alone in experiencing the value of next-generation sequencing. As has been highlighted throughout our webinar series, there are tremendous advantages in the application of next-generation sequencing as it relates to the practice of medicine. Luminaries Dr. Heidi Rehm of Partners Healthcare and Dr. David Goldstein of Duke University each respectively demonstrated utility from both a research perspective as well as in direct benefit to patient care as it relates to the diagnosis of rare disorders, screening for genetic risk factors, and development of targeted therapies.

But administrators of many health systems, large and small, still find themselves in a precarious position when attempting to justify the integration of genomic medicine into routine medical care. There are many barriers and challenges to consider as Dr. James Crawford of North Shore-LIJ Health System duly noted in his presentation.

As many of us turn our attention to the holidays, this final Knome webinar of the year seeks to address some of these challenges by wrapping a bow on what has already been presented. Emphasizing an applied approach, Dr. Ben Salisbury, SVP of Clinical Products at Knome, will review one critical lesson: once you’ve sequenced a genomic region – whether a set of genes, an exome, or an entire genome – the data you obtained can be queried indefinitely as new discoveries are made and knowledge disseminated.

By demonstrating in silico approaches to variant prioritization and genomic interpretation specifically for areas such as Warfarin dosing, pediatric hearing loss, hypertrophic cardiomyopathy, epileptic encephalopathy, and screening for incidental findings as was profiled in Drs. Nislow’s, Rehm’s, and Goldstein’s webinars, it is our aim that you can immediately begin applying what you learn to improve your own translational research and clinical endeavors.

Dr. Salisbury’s career has been spent in the personalized medicine and genomics industries. He joined Knome in 2012 and currently holds the position of Senior Vice President of Clinical Products where he acts as a liaison between marketplace needs and development of the knoSYS^® platform. Prior to joining Knome, he served in various scientific and management roles at Genaissance Pharmaceuticals, Clinical Data, and Transgenomic. His expertise spans several areas of genetic research and its clinical application, including molecular diagnostics, personalized medicine, population and statistical genetics, and software and algorithm development. Dr. Salisbury holds degrees in biology from Yale University and the University of Michigan.