Illumina Launches TruSight Software Suite, Accelerating Identification of Genetic Diseases

July 10, 2020 | Illumina has launched its TruSight Software Suite in an effort to bring turn-key data analysis solutions to accelerate and facilitate the adoption of whole-genome sequencing. TruSight Software enables sample-to-report analysis for genetic disease testing, giving customers an integrated solution that focuses on one of the most challenging parts of the workflow, empowering researchers to go from 5 million variants to a small handful, in a rapid, scalable way. TruSight Software will make it easier for people to benefit from the valuable insights enabled by genomic sequencing.

Developed in collaboration with Mayo Clinic and other key opinion leaders, the TruSight Software Suite reduces the interpretation bottleneck from as much as weeks to as little as hours. When combined with Illumina's NovaSeq 6000 and Illumina DNA PCR-Free Prep, the suite offers a complete whole-genome sequencing analysis workflow designed to help evaluate, visualize, curate and report on rare variants.

More than 250 million people are affected by rare genetic diseases globally. These conditions can be debilitating with families frequently spending upwards of five years being referred from doctor to doctor, enduring a diagnostic odyssey often fraught with misdiagnoses, inappropriate treatments and procedures, all in search for an underlying cause. These diagnostic odysseys are expensive. In the U.S. alone it is estimated that pediatric genetic diseases cost at least $14 billion every year. And, in some cases it’s a race against time, where an early diagnosis can dramatically improve patient outcomes – potentially even helping a young child live a healthier, fuller life. As one of the most comprehensive genetic tests available, whole-genome sequencing offers the potential to shorten the time and reduce the cost of identifying these genetic conditions, and the most likely to end the diagnostic odyssey.

In an official statement, Illumina’s Vice President of Scientific Research, Ryan Taft, said, “This combination of products will set the standard for scalable and swift interpretation of genomic information, enabling whole-genome sequencing to become the standard of care in rare diseases. By 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.”

The key to realizing the promise of precision medicine relies on accurate and specific diagnosis. Each human genome comprises more than 3 billion nucleotides of which roughly 5 million variations are unique to each individual. A slight modification of one or two of these variations can mean the difference between being healthy and having a serious genetic disease. Finding these critical few variants is currently the most challenging technical obstacle for genetic testing. TruSight Software Suite is a powerful compilation of tools and innovation thoughtfully designed to drive through the noise to find those disease-causing variants.