iHope Initiative Solves Rare Disease with Pro Bono DNA Sequencing

I’ve written about the tremendous success of using genome sequencing to diagnose rare genetic diseases in babies before, but there are still plenty of challenges to overcome. Perhaps the biggest is cost: if genome sequencing isn’t covered by insurance, then it’s only the more affluent families who can afford this kind of approach for their sick children.

That’s where the iHope initiative comes in. Launched 5 years ago with $120 million from the DNA sequencing company Illumina, iHope is a consortium now run by the Genetic Alliance with a mandate to provide pro bono genome sequencing for kids and families believed to have a rare genetic disease. It offers a remarkable opportunity to bring game-changing — potentially life-saving — treatment to children who might otherwise have no access to this kind of support.

At the annual meeting of the American College of Medical Genetics and Genomics earlier this year, the CEO of both Genetic Alliance and iHope spoke about her own journey in the rare disease field, and how she hopes to bring relief to families through this program. Some 3,000 kids have been sequenced at no charge through iHope so far, Sharon Terry said, and many of these projects involve sequencing not just the sick child but also the parents for a more complete view of potential disease-causing genetic variants.

That’s an impressive number, but even more compelling are the results. At least half of the kids helped by iHope so far have gotten a diagnosis, Terry said. (Bear in mind that without genome sequencing, most of these kids and their families would be condemned to a years-long diagnostic odyssey just to get a diagnosis. Many of them would never be diagnosed even after countless tests and procedures.) More than half of iHope participants get some recommended change in treatment plan based on their genetic data. That means even if the sequence information doesn’t lead to the name of a disease, it can still help kids in desperate need of better healthcare.

When I first began covering the genomics field, DNA sequencing and interpretation were the bailiwick of a relatively small group of expert scientists. Now, thanks to massive reductions in cost that have brought sequencing technologies to labs around the world — not to mention the availability of streamlined genome interpretation tools — almost any scientist can contribute to a genomic analysis project. As Terry told attendees at the ACMG meeting, iHope doesn’t need the elite genome centers to do its work. “Deploying the genomic technology is not the hard part,” she said.

The hard part is this: equitable deployment of these technologies to ensure that all children with rare diseases have a shot at getting a diagnosis and a treatment plan. At iHope, the team is trying to make progress by partnering with clinical groups and laboratories willing to contribute the time and resources needed to perform DNA sequencing and analysis for families in need. The organization currently has 24 clinical partners around the world, plus five labs.

The key question in front of us, Terry told ACMG attendees in her talk, is whether genomic medicine will ultimately be a luxury or a public good. It’s an important point to consider, and one that we should all have a part in answering — whether that’s through the representatives we choose to elect, the healthcare policies we support, or the charitable contributions we might make (iHope is actively seeking donations, for example).

Short Takes

More news to report on the federal government’s attempts to undermine science in this country.

One week ago, the administration fired all 22 members of the National Science Board, a group that oversaw the National Science Foundation. No explanation was given, and the science community is very concerned about what this means for ongoing operations at the NSF, a key funding agency for basic research.

An analysis from Nature found that the current administration has disbanded at least 100 advisory panels from federal research and other science-focused agencies. In 2025, the Department of Health and Human Services alone terminated 77 advisory boards. (In 2024, the number was two.)