Hope for rare diseases

Illumina kicks off iHope initiative for undiagnosed children

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SAN DIEGO—In an effort to help pediatric patients, Illumina Inc. has launched the iHope program to discover the genetic causes of undiagnosed rare diseases in children. The initial program partners joining Illumina in this initiative are Foundation for the Children of the Californias, Rare Genomics Institute and the University of California, San Francisco’s Benioff Children’s Hospital.
“We know that rare diseases can affect any family at any time. Being a part of iHope gives me confidence that together we can make a difference for patients with these conditions,” said Dr. Jimmy Lin, founder and president of Rare Genomics Institute. “Whole-genome sequencing has already shown its value in identifying rare and undiagnosed diseases and, as we learn more, I believe that the process will become a routine part of medical practice. Children will no longer have to suffer through a crusade of testing.”
Under the initiative, clinical experts connected to iHope partner institutions will refer children with financial need and undiagnosed conditions believed to be genetic to the Illumina Clinical Services Laboratory. Those who are eligible to participate in the program will receive whole-genome sequencing at no cost to help in the effort of identifying the underlying cause of an individual’s condition and identifying a target (or targets) for treatment. For its part, Illumina will handle all whole-genome testing procedures, from the testing itself to delivering a clinical report back to its partner sites.
“We think that whole-genome sequencing, particularly as it evolves quite rapidly, is the best test for these patients,” Ryan Taft, senior director of scientific research at Illumina, tells DDNews. “We can now provide a test that not only does what an exome can do in terms of getting single nucleotide variants in exomes, but we can also get larger changes in the genome, which are called copy number variants. And we can do that all in one test at one time, and we think that that’s really where the future of the testing for these patients will go.”
Genetic sequencing, says Taft, is “incredibly important,” adding that one of Illumina’s leading questions is “why whole-genome sequencing is not a part of almost every clinical trial that’s going on in this space, not only to understand why a drug works, but then to understand for those perhaps that aren’t responding what the genetics behind that would be and then identify new targets.”
By U.S. standards, rare diseases are those conditions that affect fewer than 200,000 people in the United States. By Global Genes’ estimates, as many as 30 million Americans have a rare disease, some 80 percent of which are genetic in origin. Of those numbers, roughly 50 percent of rare disease sufferers are children, and 30 percent don’t live to see their fifth birthday. This initiative is meant to address those challenges, especially for families who cannot access or afford next-generation sequencing-based testing.
“Understanding the scope and size of the population affected by rare diseases, we have a moral imperative to increase the visibility of this global health problem and help find solutions for the children and families who are suffering,” Francis deSouza, president and CEO of Illumina, commented in a press release. “With precision medicine and large-scale genomic initiatives being launched all over the world, we believe that genomics is reaching an inflection point in the public consciousness. The iHope program aims to build on that public awareness by focusing on the needs of those with rare, undiagnosed genetic diseases and showing how next-generation sequencing can benefit this population.”
Taft says there has been a definite increase of interest in rare diseases in recent years, which he calls “remarkable.”
“I think the whole community, the company, the field is really seeing the possibility, the impact, that we can have on these patients, both in the near term and the long term,” Taft remarks. “What I think we’re really looking at is this beautiful convergence of what we’re going to be able to do from a diagnostic perspective with whole-genome sequencing—particularly if we roll this into the patient journey very early so we’re not waiting until five years down their diagnostic odyssey—and then having targeted therapies that are going to be right on the other side of that. And I think the 21st Century Cures Act touched on it; we’re seeing a lot of advocacy groups getting a lot of attention, because I think we almost all intuitively know that this is where precision medicine is going to manifest itself first.”

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