Skip to main content
Premium Trial:

Request an Annual Quote

Illumina Launches Philanthropic Sequencing Program for Children With Rare Diseases

NEW YORK (GenomeWeb) – Illumina has launched a philanthropic whole-genome sequencing program in conjunction with the Foundation for Children of the Californias, the Rare Genomics Institute, and the University of California, San Francisco Benioff Children's Hospital.

The program, called iHope, is aimed at children with undiagnosed rare diseases who cannot afford diagnostic sequencing. In its first year, Illumina expects to sequence 100 patients and their parents.

"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," Illumina President and CEO Francis deSouza said in a statement.

The iHope program partners will select eligible participants who are referred to the program by clinical experts. Illumina will perform clinical whole-genome sequencing for selected individuals at no cost in its CLIA-certified and CAP-accredited laboratory.

"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," Jimmy Lin, founder and president of the Rare Genomics Institute, added. "Children will no longer have to suffer through a crusade of testing."

The Scan

Study Tracks Responses in Patients Pursuing Polygenic Risk Score Profiling

Using interviews, researchers in the European Journal of Human Genetics qualitatively assess individuals' motivations for, and experiences with, direct-to-consumer polygenic risk score testing.

EHR Quality Improvement Study Detects Demographic-Related Deficiencies in Cancer Family History Data

In a retrospective analysis in JAMA Network Open, researchers find that sex, ethnicity, language, and other features coincide with the quality of cancer family history information in a patient's record.

Inflammatory Bowel Disease Linked to Gut Microbiome Community Structure Gradient in Meta-Analysis

Bringing together data from prior studies, researchers in Genome Biology track down microbial taxa and a population structure gradient with ties to ulcerative colitis or Crohn's disease.

Ancient Greek Army Ancestry Highlights Mercenary Role in Historical Migrations

By profiling genomic patterns in 5th century samples from in and around Himera, researchers saw diverse ancestry in Greek army representatives in the region, as they report in PNAS.