Illumina launches whole-genome analysis software to help identify rare diseases

Illustration of three DNA helices
Illumina is launching a new system that can sequence the genome of a particular person as well as their parents to help identify genes of interest. (Darwin Laganzon)

Illumina is launching a new software suite aimed at making it easier to identify the genetic factors behind various rare diseases.

Using data gathered through whole-genome sequencing, the company’s TruSight software-as-a-service platform is designed to dispense reports on an individual’s genetic variants, including large and small alterations in their DNA and mitochondria.

The ultimate goal is to help shorten the amount of time needed for a correct diagnosis, which for some conditions can take several years and as many specialist visits or procedures.

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Developed in collaboration with the Mayo Clinic and others, the TruSight software and Illumina’s NovaSeq 6000 hardware sift through the more than 3 billion nucleotides that make up the human genome in a matter of hours.

“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, Ph.D., Illumina’s vice president of scientific research.

After identifying the 3 million to 4 million genes unique to each person, the suite narrows them down further to find the inherited changes linked to serious genetic diseases. The system can also sequence the genome of a particular person as well as their parents to help identify genes of interest.

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“The future of pediatric medicine will include whole genome sequencing for suspected genetic disorders,” said William Morice, M.D., Ph.D., president of Mayo Clinic Laboratories and chair of the clinic’s department of laboratory medicine and pathology. “Enabling laboratories and physicians with access to efficient, clinical-grade whole-genome sequencing solutions is essential.”

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