Illumina Intros Genomic Analysis Workflow Software to Speed Diagnosis of Genetic Conditions

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Centogene’s CentoMD® rare disease variant database will be integrated into Qiagen’s bioinformatics suite in a rare disease bioinformatics collaboration by the companies. [Source: alengo/Getty]

Illumina announced today the launch of its TruSight Software Suite, a solution that aids in creating efficient workflows to help increase adoption of whole-genome sequencing and comes with the promise of significantly reducing the time from sample to answer from days—or even weeks—to hours.

Developed in collaboration with researchers and clinicians at the Mayo Clinic, and other partners, Illumina says TruSight  provides a turn-key solution to tackle the most critical, and challenging piece of incorporating whole-genome sequencing for the identification of rare genetic diseases—the interpretation of millions of variants to rapidly identify the handful of relevant variants that are contributing to an individual’s disease.

The new software suite can pull together the power of a range of offering from Illumina including the NovaSeq 6000, its DRAGEN Bio-IT Platform, and Illumina DNA PCR-Free Prep, which when taken together provides a complete whole-genome sequencing analysis workflow for curation and reporting of rare variants.

“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 in a press release. “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 launch of the new workflow software comes as rare disease diagnosis and treatment is rapidly establishing itself as the second prominent area of precision medicine alongside cancer care. It is thought there could be as many as 7,000 rare diseases and, when considered as a group, these are estimated to affect between 25 million and 30 million people in the U.S. alone and more than 200 million globally.

While some rare genetic diseases require almost immediate attention after birth in order to provide any chance at effective treatment, as evidenced by the ongoing work of Dr. Stephen Kingsmore and colleagues at Rady Children’s Institute of Genomic Medicine, many more rare conditions are not life threatening. In these cases, the patients and their families often embark on a “diagnostics odyssey” one marked by referrals from one medical specialist to another and can often take as long as seven years before a diagnosis.

Between needing regular care and the battery of testing done for rare disease patients, it is estimated that in the U.S. alone the cost of pediatric genetic diseases total more than $57 billion every year. Broadening availability to whole-genome testing for patients with a suspect rare genetic disorder can help shorten the time to diagnosis and potentially save billions of dollars of healthcare costs.

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

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