Israel’s all-in-one test for diagnosis of rare inherited disorders – The Jerusalem Post

Posted: January 10, 2020 at 10:48 pm

Im fascinated by genetics, but I also find it extremely complicated and confusing. In fact, I remember genetics being one of the most intimidating topics we learned in biology back in high school. If you had told me back then that Id be writing about a genetics company all these years later for The Jerusalem Post, I might have laughed.When it comes to genetics, variables are limitless, and its mind-blowing to see how each of us, in our own unique way, essentially won the genetic lottery through the course of time and evolution.This explains why recreational genetic testing providers, such as 23andMe,, and MyHeritage gained significant popularity over the years.However, it is worth noting that these services can only read a portion of our DNA data. There is so much more depth to the full picture of our DNA and gaining visibility into that data can improve health and prevent premature death, as well as identify and eliminate the risk of passing genetic disorders.The first human genome was sequenced in 2013 as part of an international project with the goal of identifying and mapping all human genes. The project took 13 years to complete and the estimated cost was a whopping $3 billion.To this day, it remains the worlds largest collaborative biological project and it has opened new frontiers in science and medicine, but also brought challenges that have yet to be fully addressed.It presently costs less than $1,000 and takes a single day to sequence the human genome. Whole genome sequencing (WGS) provides a readout of the three billion letters of an individuals entire DNA sequence. This data provides the foundation for identifying all types of disease-causing variants, or changes in an individuals DNA that cause disease.However, the biggest challenge is how to accurately (and economically) make sense of the vast amounts of data that WGS generates. I mean, there is big data and then there is this, more like astronomical data!Variantyx is a Tel Aviv-based clinically accredited genetic testing lab. Its headquarters are in Boston and it uses technology based on WGS to perform one-stop comprehensive testing for patients. The company was founded in 2014, and has raised $18 million in capital from Pitango. The analyses performed by Variantyx are carried out using an in-house developed analytical platform built and optimized for WGS data. Their proprietary algorithms identify a wide range of difficult-to-detect sequence variants, and is then presented to Variantyxs clinical team for interpretation and reporting. The potential of this technology is quite literally limitless.Variantyxs Genomic Unity is the industrys first comprehensive, all-in-one test for diagnosis of rare inherited disorders. It eliminates the need to order multiple tests, resulting in more diagnoses in a shorter period of time, and with lower overall costs. This is a big deal because rare disorders are not actually rare. With more than 7,000 rare diseases, its estimated that over 30 million people in the US and over 350 million people globally are affected. Many of these diseases are genetic in origin, and many of the individuals affected are children.THROUGHOUT THE typical diagnostic journey, a rare-disease patient will be seen by eight different physicians in less than a decade, and will spend an average of $21,000 to reach a diagnosis. They are the lucky ones. Many patients remain undiagnosed, despite multiple rounds of genetic testing. Variantyxs WGS-based Genomic Unity test is changing this.Since its introduction to the market in late 2017, the test has solved hundreds of previously undiagnosed cases for patients at many childrens hospitals worldwide. The benefits of comprehensive genetic testing extend to healthy individuals. Variantyxs Genomic Inform test has been developed to provide important information about disease predisposition risk, and carrier status. The test has applications in disease predisposition screening, newlywed carrier screening, prenatal screening and pharmacogenomics a field of precision medicine that identifies variants which influence how an individual responds to a particular prescribed drug.In terms of market demand, the overall genomic diagnostic market is valued to be greater than $20 billion, most of which is health-insurance driven. It has the potential to grow substantially as the cost of sequencing continues to decrease. In 2019, Francis deSouza, the CEO of Illumina, committed to making the $100 genome a reality. At that price, in the not so distant future, it will be possible to sequence every newborn and make their genomic data available for consultation whenever a clinical decision is made during their lifetime.Variantyx was formed as a spin-out of Tel Aviv University in 2014, and is now 45 team members strong. The idea of Variantyx actually started 10 years ago at the functional genomics lab at Tel Aviv University, headed by Prof. Noam Shomron. He and his PhD students were frustrated by the major bottleneck affecting analysis of patients exome data, as so much of the work had to be done manually. They set about developing a pipeline to more effectively process the information. To tackle the challenge of applying his teams work at the scale needed to help a larger number of patients, Noam teamed up with Tomer Jackman and Haim Neerman. Jackman had played a pivotal role at EMC, helping to develop their big data platform, and naturally wasnt daunted by the vast amounts of data that needed to be processed.Neerman, a serial technology entrepreneur in the area of IT systems and business process automation brought valuable expertise in eliminating time-consuming and error-prone manual steps. They collectively had the foresight to anticipate the shift from exome data to genome data and began building the first version of the companys analytical platform. The same platform is used today to perform its WGS-based Genomic Unity and Genomic Inform testing. The company has been growing rapidly to support the increased demand for its testing.Today, Variantyx is providing answers to rare disease patients and healthy individuals alike, and I personally cant want to see what unfolds as they prepare for a more broad population-based deployment as genome sequencing becomes more affordable, accessible, and penetrates the mainstream.

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Israel's all-in-one test for diagnosis of rare inherited disorders - The Jerusalem Post

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