Hundreds of children carrying rare, previously undiagnosed disorders have been helped by this Israeli innovation.
Israeli company Variantyx created a single method for detecting rare, inherited disorders. Until this innovation, multiple costly and time-consuming testing methods were required, leaving the possibility for missing a diagnosis.
Though the scientific community provides DNA sequencing indispensable for basic biological research, whole genome sequencing (WGS) offers an entire DNA profile. However, this test is costly and interpreting the vast amounts of data generated makes proper diagnosis time consuming, if not impossible.
Variantyx, founded in 2014, developed algorithms to optimize evaluations of WGS data and streamline reporting. “The platform uniquely identifies a wide range of difficult-to-detect sequence variants including small sequence changes, structural variants, mitochondrial variants and short tandem repeat expansions,” according to Variantyx’s website.
Its team is made up of medical professionals, bioinformaticians, software engineers, information technology and operations professionals. Through their development, a unified clinical report, signed by board-certified clinical geneticists, is received within eight weeks of testing, according to the company.
“Rare disorders” is actually a misnomer. To date, there are about 7,000 rare diseases that effect over 30 million people in the US and over 350 million people globally, according to The Jerusalem Post. A high percentage of these disorders are genetic in nature, often effecting children.
“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,” the Post reported.
This Israeli innovation is leading the way to routine, comprehensive genetic testing. It has already “solved hundreds of previously undiagnosed cases for rare disease patients as well as provided important information about disease predisposition risk and carrier status to healthy individuals,” according to the company.