Whole-genome testing to improve risk predictions in myelodysplastic syndromes
Whole Genome Sequencing for Genomic Evaluation and Risk Stratification of Patients with Myelodysplastic Syndromes
Whole-genome sequencing is used to find genetic changes that help predict which people with myelodysplastic syndromes (MDS) are more likely to progress to acute leukemia.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project ID | NIH-11250177 on NIH RePORTER |
What this research studies
If you have MDS, doctors would use a clinical whole-genome sequencing test called ChromoSeq on your bone marrow or blood to look for chromosomal deletions, duplications, and other genetic changes. This approach gives much higher resolution than standard karyotyping and can find abnormalities that routine tests sometimes miss. The team will compare WGS results with standard cytogenetics to refine each person’s genetic risk profile and better predict progression to acute myeloid leukemia. The testing is done under clinical lab standards (CAP/CLIA) so results are handled in a clinically appropriate way.
Who could benefit from this research
Good fit: Adults diagnosed with myelodysplastic syndromes who can provide bone marrow or blood samples and agree to clinical follow-up are the ideal participants.
Not a fit: People without MDS, those with unrelated blood disorders, or patients unable or unwilling to provide clinical samples or follow-up are unlikely to get direct benefit from this work.
Why it matters
Potential benefit: It could provide more accurate genetic risk profiles to help doctors time treatment better, possibly improving outcomes and avoiding unnecessary aggressive therapy.
How similar studies have performed: Earlier validation of the ChromoSeq WGS test showed 100% sensitivity for key cytogenetic abnormalities in AML and found extra events in up to 25% of patients, so this applies a validated method to MDS.
Where this research is happening
Saint Louis, United States
- Washington University — Saint Louis, United States (Active)
Researchers
- Principal investigator: Duncavage, Eric J — Washington University
- Study coordinator: Duncavage, Eric J
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.