July 8, 2020
滨濒濒耻尘颈苍补鈥檚 TruSight鈩� Software Suite simplifies next generation sequencing (NGS) bioinformatics and allows the user to easily prioritize and review genomic variation(s) likely to cause a rare genetic disease. By enabling laboratories and researchers to quickly annotate and navigate the billions of base pairs in a patient鈥檚 genetic code, TruSight Software Suite will make it easier to glean valuable medical insights from whole-genome sequencing data.
One of genomic sequencing鈥檚 most powerful applications is helping to identify the underlying genetic cause for a patient鈥檚 rare disease. Many families with a child with an unexplained set of medical issues find themselves on a years-long diagnostic odyssey to find answers.
The physician, who in many cases has never seen these rare symptoms before, refers the family to a specialist. Test after test comes back negative, and referrals to multiple specialists yields more investigations and no answers.
鈥淔or years, we didn鈥檛 know what to think, and we didn鈥檛 know where to go,鈥� said Jennifer, whose daughter Sophia has been diagnosed with beta-propeller protein-associated neurodegeneration (BPAN), which affects only 100 people worldwide. 鈥淲e went from doctor to doctor, doing whichever test they recommended. Finding a diagnosis, for me, has been life-changing.鈥�
Prior to the ability to broadly search for causal variants across all the genes in a patient鈥檚 genome, physicians would make an educated guess on which genetic anomaly might be causing a child鈥檚 condition. A test of one or a few genes known to cause a set of symptoms would be ordered. If the test came back negative, weeks later, they would try another gene鈥nd so on.
With its ability to comprehensively assess an entire genome, whole-genome sequencing (WGS) can provide answers in less than 72 hours, rather than years. But the human genome has around 3 billion bases and more than 20,000 genes. One genome can have five million variations. Almost all of those are harmless, but they have to be sifted to find the one disease-causing variation.
Developed with Mayo Clinic and other experts, TruSight Software Suite dramatically accelerates the ability to identify problem variant(s). Along with VR真人彩票's highly accurate NovaSeq 6000 sequencer, VR真人彩票 DNA PCR-Free Prep, TruSight Software Suite integrates DRAGEN Bio-IT and other bioinformatics innovations and tools to help create a swift genomic analysis workflow to quickly find these rare pathogenic variants.
鈥淭his combination of products will set the standard for comprehensive, scalable, and swift interpretation of genomic information, enabling fully-featured whole-genome sequencing to become the standard of care in rare diseases,鈥� said Ryan Taft, Vice President of Scientific Research at VR真人彩票. 鈥淏y enabling users to quickly sift through millions of variants to find an answer, we will make it easier for rare disease patients to benefit from valuable genomic insights.鈥�
These incredible technologies can help families make a care plan that is best for their child. In some cases, they may find treatments. Emerging gene therapies for spinal muscular atrophy and other conditions offer new hope.
But even if there are no FDA-approved treatments 鈥� the case with most rare diseases 鈥� having a genomic diagnosis is a critical first step towards finding clinical trials and connecting with other families dealing with the same condition. 鈥淚t鈥檚 always important to find your tribe,鈥� said Jennifer.
Read our TruSight Software Suite press release, here.
