RARE Daily

Illumina Launches Software Suite to Accelerate the Identification of Genetic Diseases

July 8, 2020

Rare Daily Staff

Illumina said it has launched a software suite that is intended to accelerate the diagnosis of rare genetic diseases using whole genome sequencing.

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. But 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.

Illumina’s turn-key data analysis solution, dubbed 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.

The software suite, developed in collaboration with Mayo Clinic and other medical experts, reduces the interpretation bottleneck from as much as weeks to as little as hours, the company 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,” said Ryan Taft, vice president of scientific research at Illumina. “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.”

These diagnostic odysseys are expensive. In the United States 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.

“The future of pediatric medicine will include whole genome sequencing for suspected genetic disorders,” said William Morice, president of Mayo Clinic Laboratories, and department chair of laboratory medicine and pathology at Mayo Clinic in Rochester, Minnesota. “Enabling laboratories and physicians with access to efficient, clinical-grade whole-genome sequencing solutions is essential.”

Photo: Ryan Taft, vice president of scientific research at Illumina

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