Genoox: Turning Complex Genetic Data into Actionable Insights at the Click of a Button
By Netalie Nadivi, Partner, Triventures
Today, we announced our investment in Genoox, a start-up company in the genomics domain poised to become an industry leader in personalized medicine. At Triventures, we have a strong focus on transformational health opportunities — data driven technologies that transform how healthcare is delivered and experienced and will have an impact on healthcare economics. We believe in healthcare value propositions that offer personalization, prevention and accessibility and Genoox tightly fits this investment thesis.
Key Turning Points in Genomic Medicine
To best understand Genoox’s value proposition, we need to frame the challenges in genomic analysis which begins with a brief history lesson. The first major turning point in genomics was The Human Genome Project, launched in 1990. This $3B international research collaboration sought to determine the sequence of over 3 billion nucleotide base pairs that make up the human DNA and to map genes from a physical and functional standpoint. A complete assembly of the human genome was announced in 2003, two years ahead of plan, delivering what we refer to today as the reference human genome.
The second major turning point in genomics was the introduction of Next Generation Sequencing (NGS) over a decade ago. NGS implements a fundamentally different approach based on short reads which analyze shorter fragments of DNA before assembly of the sequence — this is faster and more cost effective than long reads. In a market dominated by Illumina, NGS enables high throughput sequencing at rapidly reducing costs (from $1M in 2008 down to an expected $1 in 2025 for the whole genome).
Sounds amazing, right? Indeed, it is, but the cost-effective, high throughput whole exome and whole genome sequencing enabled by Illumina and competitors is far from perfect and still poses hurdles to making genetic testing accessible to the masses. NGS requires rereading the same DNA fragment numerous times, a.k.a. ‘coverage’ — this process is prone to errors. Eventually, the error prone reads are assembled into a conclusion of what the actual DNA sequence might be which is in turn compared to the reference genome (a representative example of the human genome) — basically an estimation compared to an estimation. NGS output is a major breakthrough in the genetic testing value chain, but on its own is not sufficient to deliver reliable clinical insights. The inherent errors in NGS pose significant algorithmic challenges and technological solutions that can address such challenges and accurately ‘fill in the blanks’ will be in high demand as clinical genetic testing begins to soar.
Enter Genoox…
Genoox has developed a comprehensive platform to address the key challenges in genomic analysis transforming NGS output from ‘general guidance’ to accurate, actionable and timely. Genoox’s solution automates and streamlines analysis of genetic big data in the cloud, enabling clinicians, labs, pharma companies and researchers to receive accurate insights rapidly. At the same time, Genoox allows seamless transfer of NGS samples, efficient management and storage of the resulting data.
In three simple steps, users access on-demand clinical insights: (1) upload NGS sample, (2) select genetic clinical app, (3) analyze data, receive insights. For the sake of example, the company recently hosted a webinar in which it demonstrated a real-life sample analysis that started with millions of variants and within a few minutes and a couple of clicks through Genoox’s platform using genotype to phenotype correlation, the case was targeted to one specific variant resulting in timely diagnosis and precise treatment. This is the embodiment of personalized, efficient and actionable medicine. Powerful! Genoox’s platform is fortified with advanced data indexing, ultra-sensitive bioinformatics models, highly accurate variant classification, ability to ultra-filter with phenotypical data and machine learning to continuously refine results. All this wrapped into a friendly UX and reducing genomic analysis time from weeks to hours.
Genoox is currently active in 3 clinical domains — rare diseases, carrier screening and hereditary cancer. Beyond the clinical and operational value Genoox delivers to its customers which distinguishes it from other players in the market, the company has developed a truly scalable solution that enables introduction of a new clinical app every few months. By eliminating technical barriers to expansion of the solution, Genoox can become the ‘go-to’ platform for any and all genetic analysis across a wide breadth of indications.
As with any investment, we look at a number of criteria when considering a new opportunity. When it comes to the 3 Ts (Timing, Team, Technology), Genoox excels in all. We are honored to join this journey with Amir Trabelsi and Moshe Einhorn, the talented, dedicated and humble co-founders leading the company that is introducing an outstanding technological platform addressing a true market need. Together we will make personalized medicine a reality.
