Illumina launches tool for whole-genome sequencing of rare diseases

July 21, 2020

Illumina has launched the TruSight Software Suite to help facilitate whole-genome sequencing for rare genetic diseases. The software enables sample-to-report analysis for genetic disease testing by allowing researchers to sift through millions of variants to find genomic insights, the company said.

“The future of pediatric medicine will include whole genome sequencing for suspected genetic disorders,” said William Morice, MD, PhD, President, Mayo Clinic Laboratories, and Department Chair, Laboratory Medicine and Pathology at Mayo Clinic in Rochester, MN. “Enabling laboratories and physicians with access to efficient, clinical-grade whole-genome sequencing solutions is essential.” Illumina said it collaborated with Mayo and other “key opinion leaders” in the development of the software.

More than 250 million people are affected by rare genetic diseases globally, according to Illumina. 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 is 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 is the most likely option to end the diagnostic odyssey.

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