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A CRISPR-based rapid molecular diagnostic for two forms of leukemia – Dana-Farber Cancer Institute

Dana-Farber Cancer Institute/LinkedIn

Dec 27, 2024, 18:27

A CRISPR-based rapid molecular diagnostic for two forms of leukemia – Dana-Farber Cancer Institute

Dana-Farber Cancer Institute shared a post on LinkedIn:

“Researchers at Dana-Farber have created a CRISPR-based rapid molecular diagnostic for two forms of leukemia that are driven by mutations that involve gene fusions. The technology accurately detects the presence of these gene fusions in acute promyelocytic leukemia (APL) and chronic myeloid leukemia (CML) in patient samples.

Precision medicines have been available for these two forms of leukemia but many care centers are unable to provide timely precision diagnostics for the diseases. This technology could fill that gap and enable more patients to receive lifesaving cancer treatments.

‘It doesn’t matter if you have highly effective treatment for a disease if you can’t diagnose that disease,’ says Dana-Farber physician-scientist Coleman Lindsley, MD, PhD. ‘If we can make testing more widely available, it will decrease the barriers and therefore reduce mortality.’

Patients who develop APL are at a high risk of death from bleeding during the interval between initial disease onset and the start of treatment. Treatment with all-trans retinoic acid (ATRA) immediately reverses the bleeding risk.

When rapid molecular diagnostics are readily available, fewer than one in ten patients with a fusion gene with die from the disease because they are quickly matched with curative treatments. However, when diagnostics are not readily available, one in three patients dies from the disease while waiting for a diagnosis.

‘Our test can be used at the point of care, so an emergency room physician could know within a couple of hours if this patient should receive this essential lifesaving drug,’ says first author and Dana-Farber physician-scientist Rahul Vedula, MD.

The test results can be read out on a lateral flow strip within two hours and were 100% accurate in tests on patient samples.

In the case of CML, there are highly effective and inexpensive oral precision medications available to treat the disease. In countries with limited resources, however, health systems do not have access to diagnostics that enable physicians to diagnose the disease and prescribe the treatments.

‘We’re trying to fill that accessibility gap,’ says Lindsley. ‘This diagnostic test could be used in a low-resource setting without the need for highly specialized medical training.’

The test searches within a blood sample for strings of RNA. The tests are highly accurate because the CRISPR mechanism matches only with an exactly matched RNA code. Approximately 95% of patients with APL or CML that have fusion gene alterations have one of these known sequences.

The team tested the diagnostic on blood and bone marrow samples from patients with APL or CML. Results were 100% accurate.

Based on the results of this study, the researchers have begun working with the Robert and Renee Belfer Center for Applied Cancer Science at Dana-Farber to develop the technology into a commercial product.”

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