Researchers at the Dana-Farber Cancer Institute have created CRISPR-based diagnostics for two types of gene fusion-driven leukemia.
The tests accurately detect the presence of gene fusions that are diagnostic for acute promyelocytic leukemia (APL) and chronic myeloid leukemia (CML) in patient samples, with results available on a lateral flow strip within two hours.
Writing in the journal Blood, the team shared that the diagnostic, designed to be used at the point of care, showed 100% accuracy in tests.
To test their assays, the team used blood and bone marrow samples from patients with APL or CML who had been treated at Dana-Farber, the Johns Hopkins Medical Institute, and Brigham and Women's Hospital. Additionally, the team tested dried blood-spot samples from patients with CML from regions with limited diagnostic resources, including Central America, Africa, Asia, and Oceania; these samples produced similar results.
The CRISPR-based diagnostics use the Sherlock (specific high-sensitivity enzymatic reporter unlocking) platform to search for two disease-specific RNA sequences. According to the research team, approximately 95% of patients with APL or CML with fusion-gene mutations have one of these known sequences. The CRISPR mechanism only matches with the specific strings of RNA, ensuring the accuracy of the assays, according to the researchers.
While therapies are available for the treatment of APL and CML, tests for early diagnosis are not widely available. While the available therapies can prevent life-threatening symptoms, early diagnosis is critical for their implementation.
"It doesn't matter if you have highly effective treatment for a disease if you can't diagnose that disease," senior author Dr. Coleman Lindsley, PhD, said. "By developing rapid, accurate, point-of-care tests for cancer, we hope to improve outcomes by increasing accessibility and timeliness of diagnostic testing."
Based on the positive results from the 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 commercial diagnostics.
