Getting CRISPR treatments to patients remains a major challenge. Could lab-developed tests help?

CRISPR is no longer a promising but unproven technology — it is a reality. But for this powerful gene-editing tool to reach its full potential, researchers and disease advocates say they’ll have to solve a thorny problem: connecting patients suffering from devastating diseases with therapies that could help them.

Experts pointed to lab-developed tests, or LDTs, as one important element that could help make this connection during a panel at the STAT Breakthrough Summit East in New York on Thursday. These tests, which are performed by certified labs using clinical samples, are playing an increasingly important role in shaping health care decisions — and they have the potential to identify genetic diseases.

“Science is not the limiting factor anymore,” said Julia Vitarello, founder and CEO of Mila’s Miracle Foundation, an organization devoted to finding a cure to Batten disease, a deadly neurological disorder. The technology to find patients and tailor bespoke treatments exists, she added, but “we do not have the infrastructure and the processes that connect these tens of millions of dying children with the technologies that we actually have today.”

For now, access to LDTs remains a major issue, said Lee Fleischer, former director of the Center for Clinical Standards and Quality at the Centers for Medicare and Medicaid Services, who is now at consulting firm Rubrum Advising. “How do we ensure that the right labs are certified to do this work going forward?” Fleischer, who was in the audience, asked.

When the Food and Drug Administration first started subjecting medical devices to pre-market review in 1976, lab-developed tests were relatively simple and offered at a smaller scale. Today, these tests — which are designed, manufactured, and used in a single laboratory — are more complex and inform around 70% of health care decisions, according to the Centers for Disease Control and Prevention. In September 2023, the FDA proposed a new rule to provide greater oversight to LDTs. Some patient advocates applauded the move, while labs warned that it would impede their ability to offer LDTs efficiently, or even at all. The rule was prompted by concerns about the accuracy of the tests, and it requires labs to submit tests built to screen for rare genetic diseases to the FDA.

“We’re working precisely on that,” said Fyodor Urnov, a professor at the University of California, Berkeley, and director of the Danaher-IGI Beacon for CRISPR Cures who joined Vitarello and STAT’s Jason Mast on stage. Berkeley’s Innovative Genomics Institute, he said, has an accredited laboratory for high-complexity molecular testing that is working to create a network of LDTs that can help connect patients to available CRISPR therapies.

Urnov promised “the joy of those LDTs” will be spread worldwide — that is, the tests will be made globally available, which Berkeley is in a unique position to do as an academic nonprofit — a necessity for CRISPR to have any future.

“If we can’t diagnose the subject, if we can’t follow up on the subject in a way that is rigorous and that CMS will recognize, I don’t think our field has a future,” he said.

Lizzy Lawrence contributed reporting.