Illumina Expands iHope Program to Provide Sequencing for Underserved Families
December 2016 saw the launch of the Illumina iHope Program, a philanthropic initiative aimed at identifying the genetic causes of undiagnosed rare diseases in children. The Program has now been expanded into the iHope Network, bringing several clinical laboratory members into the fold including Genome.One, GeneDx, and HudsonAlpha.
The aim behind iHope is to dramatically reduce the diagnostic odyssey facing many patients whose conditions remain undiagnosed. These odysseys can average seven years in length, and include multiple inconclusive tests, surgeries and procedures, many of which do not result in answers or treatment options 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 United States. Global Genes estimates that there are as many 30 million individuals in the US with a rare disease, 80 percent of which is genetic in origin. The iHope Program was originally 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 percent of those affected by rare diseases are children and 30 percent do not live to be five years old.
Membership of iHope involves committing to a minimum philanthropic donation of 10 whole genome tests per year. Additionally, iHope Network organizations have agreed to donate the variants identified through iHope to public databases, like Clinvar, which are freely accessible, public archives of reports of the relationships among human variations and their related symptoms or diseases.
“We are delighted to become a participating partner of Illumina’s iHope Network” said Jane Juusola, PhD, FACMG, Director of the Clinical Genomics Program, GeneDx. “As a laboratory founded to address the needs of patients diagnosed with rare genetic diseases, the very principle of the iHope program aligns with our founding mission. Through our donation of 10 whole-genome sequencing tests, we hope to bring closure to the diagnostic odysseys for children with undiagnosed rare diseases.”