Hillel’s Tech Corner: A solution for an abundance of data

Genoox removes the final barrier to widespread, timely interpretation of clinical NGS data, enabling personalized medicine for mainstream patient care.

Genoox. (photo credit: Courtesy)

Who hasn’t said the following sentence at least once: It is so hard to believe how fast we have evolved in terms of the technology we use daily? I am not even talking about the invention of the personal computer, which when conceived, the visionaries behind it were told that there is no market for such a thing. I am just talking about the more recent mobile revolution.

It seems like yesterday when Steve Jobs stood on that stage and pretty much changed everything. The result of all of these devices which we carry around in our pockets and which have more computing power than a supercomputer did just one decade ago is data. Lots and lots of data.

Technology in general, not just the mobile device, but artificial intelligence, machine learning, computer vision, and all the other phrases you hear thrown around – all of these things generate more data per second than the world has ever known.

The challenge with this massive abundance of data? Analyzing it, translating it and extracting actionable insights upon which we can act. This is true for all industries but is magnified in the world of genomics. An individual human genome is comprised of three billion base pairs, all providing information and code that determine how we look, feel, see and act.

The first whole human genome was successfully sequenced and assembled in 2003, at a cost of $3 billion. Since then, the development of next-generation sequencing (NGS) technologies has enabled faster, more scalable assembly, and has brought the cost down to $1,000 in less than 20 years.

These technology developments are rapidly paving the way to truly personalized medicine but are also generating monumental amounts of data at a very high speed. In order for this data to be useful, it is reliant on the clinicians’ time and ability to interpret it. So, while the cost of sequencing dramatically decreases, the cost of interpretation is constantly on the rise, as more and more data, information and discoveries become available.

The ability to analyze the massive amounts of data surrounding genetic screening has the potential to help detect rare genetic mutations and predict the probability of their responsibility for a condition. As you can probably imagine, being able to sort through this data is a time-sensitive, crucial matter. Clinicians are faced with a sometimes life-dependent challenge of quickly, yet accurately finding a needle (mutation) in the genetic-data haystack (billions of base-pair records).

Genoox, an Israeli company, addresses this challenge and aims to make genetic sequencing something that is not only more accessible but also more informative, understandable and actionable.

GENOOX WAS founded in 2014 by CEO Amir Trabelsi and CTO Moshe Einhorn. The company specializes in translating complex genetic data into clear, timely and actionable clinical answers. Their product is a cloud-based software platform that manages the entire genetic interpretation process in a holistic fashion, from raw data input that derives from next-generation sequencers to delivering evidence-based, clinical insights.

The team is comprised of geneticists, bioinformaticians, engineers and technology experts aiming to change the way genomic data is analyzed, shared, and stored.

Genoox has raised $12 million to date from Triventures, the lead healthcare investor, Inimiti Capital and Glilot Capital Partners, all superb venture-capital firms investing in leading healthcare and data-driven tech entrepreneurs.

In terms of how this company’s technology impacts our lives, a child with an unidentified, rare disease can now have their DNA rapidly sequenced in order to determine a possible genetic cause. However, what does the clinician then do with that information? The rapid pace of new clinical research publications and reference literature makes it highly challenging for clinicians to keep pace and provide answers on the clinical condition that is a perfect match with the specific genetic alteration.

Genoox peels back the layers to understand a person’s genome. It helps the clinician sort through complex genetic data, clinical publications, phenotypes and family history in order to provide a diagnosis and personalized treatment plan based on a person’s unique DNA. Pretty remarkable.

As far as the business is concerned, Genoox has grown its customer base and initiated partnerships with medical centers and research facilities, including the Center for Genetic Medicine Research at Children’s National Medical Center at the University of Michigan, Sinai Healthcare Services, Scripps Research Institute, Washington University as well as with global pharmaceutical companies. The company has also partnered with Bionano Genomics to create an integrated solution that enhances the reading of its optical mapping to assist with the detection of disease-causing variants. In addition, Genoox has been selected by the Israeli government’s landmark genome initiative, Mosaic, to analyze the genetic data of 100,000 sequenced citizens.

Genoox doesn’t focus solely on providing a solution for the interpretation process that clinicians go through, but has also set out to assist them in making new discoveries, consulting and sharing their knowledge. It has recently launched its community solution with which professional users across research and medical facilities can, for the first time, securely share complex research using a set of customizable tools, and engage in dedicated forum discussions on disease areas to advance science.

The bottom line is, Genoox removes the final barrier to widespread, timely interpretation of clinical NGS data, enabling personalized medicine for mainstream patient care. Their platform is used in the diagnosis and treatment of genetic disorders and cancer, as well as new drug discovery and family planning.

Technology has been known to democratize and disrupt old industries that haven’t evolved. We’ve seen it in transportation, hospitality, communications and more, but I don’t think anyone expected to see technology disrupt genomics so quickly and fundamentally. Genoox does exactly that.