Boston Children's, IBM Watson take on rare diseases

‘Watson can help us ensure we’ve left no stone unturned in our search to diagnose and cure these rare diseases.’
By Bernie Monegain
09:32 AM

IBM Watson and Boston Children's Hospital are taking on rare children's diseases that are hard to diagnose and treat. First up is a rare form of kidney disease.

The giant computing firm and the renowned hospital announced the collaboration on Monday at the Global Pediatric Innovation Summit + Awards in Boston.

Their first project will focus on kidney disease. Watson will analyze the massive volumes of scientific literature and clinical databases on the Watson Health Cloud to match genetic mutations to diseases and help uncover insights that could help clinicians identify treatment options.

Today about 1 in 10 Americans suffer from a rare disease and half of these patients are children, according to the Global Genes Project. There are about 7,000 known rare disorders ranging from benign abnormalities to life-threatening disease. Many children die before a diagnosis can be made.

The goal is to shorten the time to diagnoses, Hany Saleeb, program director for IBM Watson Healthcare, told Healthcare IT News. It takes clinicians much more time to analyze data, he explained. Watson can process data more quickly and shorten that diagnosis journey.

"Humans can have a harder time to dissect, to deal with the sheer volume of literature," Saleeb said. Even if Watson were able to shorten by half the amount of time it takes to get to diagnosis, he added, it would make a huge difference.

"That's tremendous value to the patient, the family, the healthcare industry," he said.

Saleeb noted that in some cases, it can take as long as seven years to arrive at a diagnosis. By then, the disease is likely to have progressed, changed in nature and become more difficult to treat.

At Boston Children's, investigators at The Manton Center for Orphan Disease Research are focused on diagnosing children with a wide variety of rare genetic conditions. While strides have been made, the interpretation of sequencing results is a labor-intensive process that presents an overload of information that makes analysis elusive, IBM executives say.

In the new collaboration, Watson will be trained in nephrology by reading related medical literature and aggregating information on causative mutations for steroid-resistant neophrotic syndrome or SRNS, a rare genetic form of kidney disease.

Experts at Boston Children's Hospital will feed genomic sequencing data from previous patients into Watson to further train the system. The goal is to create a cognitive system that can help clinicians interpret a child's genome sequencing data, compare this with medical literature and quickly identify anomalies that may be responsible for the unexplained symptoms.

"Coping with an undiagnosed illness is a tremendous challenge for many of the children and families we see," said Christopher Walsh, MD, director of the Division of Genetics and Genomics at Boston Children's Hospital. "Watson can help us ensure we've left no stone unturned in our search to diagnose and cure these rare diseases so we can uncover all relevant insights from the patient's clinical history, DNA data, supporting evidence and population health data."

[See also: With 2 acquisitions, IBM builds out Watson Health.]

Even with a diagnosis, effective treatment for rare conditions can be elusive. For example, SRNS patients are usually unresponsive to immunosuppressive therapy, and often must go on chronic dialysis or wait for a kidney transplant - only to have their disease frequently recur in the new organ.

"One of Watson's talents is quickly finding hidden insights and connecting patterns in massive volumes of data," Deborah DiSanzo, general manager, IBM Watson Health, said in a press statement. "Rare disease diagnosis is a fitting application for cognitive technology that can assimilate different types and sources of data to help doctors solve medical mysteries. For the kids and their families suffering without a diagnosis, our goal is to team with the world's leading experts to create a cognitive tool that will make it easier for doctors to find the needle in the haystack, uncovering all relevant medical advances to support effective care for the child."

The kidney project will be done in collaboration with Friedhelm Hildebrandt, MD, chief of the Division of Nephrology at Boston Children's and Claritas Genomics. Following its successful completion, Boston Children's plans to expand the effort into undiagnosed neurologic disorders and other disease areas studied by The Manton Center, improving diagnostic and treatment services for patients nationwide.

Boston Children's Hospital is part of the Undiagnosed Diseases Network, an NIH program that aims to solve medical mysteries by integrating genetics, genomics and rare disease expertise. Boston Children's was also the incubator behind Claritas Genomics,a genetic diagnostic laboratory that offers genetic testing and develops new diagnostic tests and solutions and organizer of the CLARITY Undiagnosed Challenge, a crowd sourcing competition seeking best practices in clinical genomics. The results and winner of the Challenge will be announced at the Boston Children's Hospital Global Pediatric Innovation Summiton November 10.

IBM has been developing Watson's ability to analyze genomic data in collaboration with leading cancer centers around the world. The system is currently being used at 16 cancer institutes to analyze and translate genomic data to help oncologists uncover personalized treatment options. The new project with Boston Children's represents the first time this technology will be applied to help clinicians efficiently identify possible options for rare disease diagnosis and treatment.

[See also: Watson joins the fight against cancer and Watson dives into genomics data.]

Saleeb said IBM would leverage work with the cancer centers to apply to the initiative at Boston Children's.

"We're leveraging some of the work we did in oncology in rare diseases," he said. "The thought process in oncology is very similar to how we're approaching it here. Essentially it's to leverage medical literature, identify relationships, identify conditions, trying to identify which gene location affects this medical condition. It's the same process as in oncology. This is the first time it's applied to pediatrics."

IBM and Boston Children's are also working together to build OPENPediatrics, an online platform designed to bring life-saving medical knowledge to pediatric caregivers worldwide. In September, the two organizations announced they would integrate Watson's deep and iterative question-and-answer capability to enhance and scale the OPENPediatrics initiative.

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