por Thomas Dworetzky
, Contributing Reporter | January 10, 2017
Yesterday IBM and Philips each announced their own partnerships with Illumina, a leader in DNA sequencing technology, in the interest of advancing precision medicine.
IBM integrated Watson for Genomics into Illumina's BaseSpace Sequence Hub and TruSight Tumor 170, a tool for profiling solid tumors into a panel aimed at showing a set of variants for 170 different genes. With Watson's help, researchers will be able to take the sequencing information and then scour the literature — from guidelines to clinical trials — to footnote every genetic alteration in a patient's results.
By simplifying and standardizing genomic data interpretation, the companies expect to cut about a week off the time researchers currently require to make such determinations.
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"To enable precision cancer medicine on a large scale, we need new tools to overcome the data barriers of genomic research," Francis deSouza, president and CEO of Illumina, said in a statement." With a comprehensive assay of Illumina and the power of Watson, we hope to deliver a rapid turnaround of the genomic alteration results."
Meanwhile, Illumina has made plans to enhance the acquisition and interpretation of genomic data with the help of Philips HealthSuite and IntelliSpace Genomics.
Data acquired by Illumina's BaseSpace Sequence Hub will be processed through IntelliSpace Genomics to bring in information from radiology, immunohistochemistry, digital pathology, medical records and lab tests.
The goal is to provide a one-stop “dashboard view” that helps scientists more easily spot insights.
The challenge of figuring out what genetic variation matters in a complex cancer is difficult but vital. DNA sequencing is used to do this, but it is a daunting problem to determine what genomic findings matter in a given patient's condition.
That's because someone can have literally hundreds of gene variants in their tumors. Of these, just a few may really be behind a person's cancer or have a role in possible therapy. These mutations must be considered along with all the other information and lab work in a specific case.
"The value of genomic information for personalized care, and for the treatment of patients with cancer in particular, is tremendous," said Jeroen Tas, CEO of Connected Care and Health Informatics at Philips. " Until now the ability to use genomic data with the aim of having a precise diagnosis of cancer and improve treatment was mostly for the domain of academic centers. Through this collaboration we will unlock the value of genomics for a much wider group of laboratories and care providers, to help them advance genomics initiatives at greater speed, with the aim to offer precision medicine with better outcomes for their patients."
The plan for the partnership is to work on “system integration, cohort analysis and health economics applications, and future research programs.”
This will allow those using the system to combine sequencing information with data from other sources, such as imaging, pathology and lab work.
In addition to these partnerships, Illumina has also introduced its NovaSeq Series, a scalable sequencing architecture expected, one day, to enable a $100 genome.
The NovaSeq 5000 and 6000 Systems are priced at $850,000 and $985,000 respectively. Compared with other Illumina sequencing systems, both have lower per sample consumable costs for most sequencing applications, according to the company.
“NovaSeq is a key development for clinical research,” said Richard Gibbs, founder of the Baylor College of Medicine Human Genome Sequencing Center, in a statement. “We are looking forward to generating tens of thousands of human whole genomes as we begin genome translation in earnest.”