Illumina has announced the iHope program, a philanthropic initiative aimed at identifying the genetic causes of undiagnosed rare diseases in children. With initial program partners Foundation for the Children of the Californias, Rare Genomics Institute and UCSF Benioff Children’s Hospital San Francisco, selected patients in financial need will receive clinical whole-genome sequencing performed by the Illumina Clinical Services Laboratory. Through whole-genome sequencing—the process of determining the order of all the DNA in a person’s body—Illumina and the iHope program partners strive to end years-long diagnostic odysseys of unnecessary and inconclusive testing for these children and their families.
Under US law, a disease is considered rare if it has a prevalence of fewer than 200,000 affected individuals in the U.S. Global Genes estimates that there are as many 30 million individuals in the US with a rare disease, 80% of which is genetic in origin. The iHope program was created out of an awareness of the challenges facing patients with rare and undiagnosed genetic diseases and their families—many of whom face financial hardship and are not otherwise able to access next-generation sequencing-based testing. Approximately 50% of those affected by rare diseases are children and 30% do not live to be five years old.
“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,” said Illumina President and CEO Francis deSouza. “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.”
“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 Jimmy Lin, M.D., Ph.D., founder and president, 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.”
Clinical experts affiliated with iHope partner institutions will make referrals to the Illumina Clinical Services Laboratory, which is certified under the Clinical Laboratories Improvements Amendments (CLIA) and accredited by the College of American Pathologists (CAP). These experts—including pediatric intensivists, medical geneticists, genetic counselors, and others—will refer children who have financial need and undiagnosed conditions suspected to be of genetic origin.
Eligible program participants selected by the iHope program partners will receive whole-genome sequencing at no cost. Clinical whole-genome sequencing is intended to provide information to physicians to aid in the diagnosis of inherited diseases, and to try to identify the underlying cause of a genetic condition. This test is most appropriate for situations where the evaluation of multiple genes may clarify or refine the diagnosis, a situation that can occur when the presenting set of symptoms and tests are inconclusive, there are many candidate genes to evaluate, or physicians believe that the patient may have multiple genetic conditions.