New Genetic Test May Improve Accuracy of MDS Risk Assessment

Understanding the genetic changes in myelodysplastic syndromes (MDS) is very important. This can help predict how MDS may develop and change over time. And it can help your care team to recommend the best treatment plan for you. A recent study presented at the 2026 American Society of Clinical Oncology (ASCO) Annual Meeting evaluated a new genetic testing tool called LeukoPrint, which could provide patients and caregivers with clearer information about their diagnosis.

Standard testing is accurate but still has some limitations

Traditional tests, such as conventional karyotyping and fluorescence in situ hybridization (FISH), look at chromosome changes in the bone marrow. However, these standard methods have clear limitations that can sometimes miss key details in the genetic analysis.

What is LeukoPrint?

LeukoPrint is a specialized genetic test that uses shallow whole-genome sequencing (sWGS). Instead of only looking at specific targets, it scans the entire genome to find missing or extra pieces of genetic material. The test had already shown success in improving genetic detection for other blood conditions, like acute myeloid leukemia and multiple myeloma. This new study looked at how well it works for people with MDS.

Key study findings 

Researchers analyzed bone marrow samples from 461 people with MDS to compare LeukoPrint against traditional testing methods. The results showed that the new test is significantly more effective at finding genetic variations.

LeukoPrint found genetic abnormalities in 63.3% of the patients. And had a much higher detection rate than traditional chromosome testing (65.7% versus 39.2%).

When looking closely at 11 specific genetic changes used to calculate standard MDS risk scores, LeukoPrint found every single abnormality that traditional tests found, while also uncovering 49.4% more genetic lesions that standard tests missed entirely.

Individual risk for people with MDS is assessed with a system called Revised International Prognostic Scoring System (IPSS-R). Because LeukoPrint discovered genetic issues that standard tests missed, researchers were able to give a more accurate risk category for 32.4% of patients. In most of these cases, the extra information shifted patients into higher-risk categories. There were 26 patients who were moved from the low-risk category into Intermediate, high, or very high-risk categories.

By finding specific hidden variations, such as a missing piece of chromosome 17 or related genetic changes, the test allowed doctors to change one patient's diagnosis to a more precise sub-type.

An accurate risk score guides every treatment decision 

The study concludes that using a whole-genome sequencing tool like LeukoPrint provides a much more complete and accurate look at MDS genetics than older testing methods. By identifying hidden abnormalities, this technology helps doctors fix under-diagnosed risk levels and pinpoint exact disease classifications, ensuring that care plans are tailored precisely to the patient's actual genetic profile.

Source: Impact of shallow whole genome sequencing on diagnostic yield and prognostic precision in myelodysplastic syndromes.