Using whole genome sequencing to improve diagnosis in blood cancers
Official title: A Prospective Study of Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in AML and MDS
Run by Washington University School of Medicine · NCT04986657 · Data updated 2026-11-12
This study is testing if a new genetic testing method can help doctors diagnose blood cancers like acute myeloid leukemia and myelodysplastic syndromes more accurately.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 375 (estimated) |
| Sponsor | Washington University School of Medicine Academic / other |
| Locations | 1 site (St Louis, Missouri) |
| Status | Recruiting |
| Started | September 17, 2021 |
| Main results expected | December 31, 2027 |
| Study ends | December 31, 2027 |
| Registry record updated | November 9, 2026 |
| Trial ID | NCT04986657 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are adults aged 18 and older who have a clinical suspicion of a new diagnosis of AML or MDS and are undergoing molecular testing.
✕Probably not a fit
Patients younger than 18 years or those whose physicians do not practice at Washington University School of Medicine may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study evaluates the feasibility of using a whole genome sequencing assay called ChromoSeq alongside standard genomic profiling for patients diagnosed with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS). It involves collecting patient data and physician feedback to assess how well ChromoSeq can be integrated into existing diagnostic processes. The goal is to enhance the accuracy and effectiveness of genomic testing in these hematologic malignancies.
Why it matters
Potential benefit: If successful, this approach could lead to more accurate diagnoses and better treatment options for patients with AML and MDS.
How similar studies have gone: While the use of whole genome sequencing is gaining traction, this specific approach with ChromoSeq is relatively novel and has not been extensively tested in similar studies.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria Patient * Patient with a clinical suspicion for a new diagnosis of AML or MDS for whom the diagnostic molecular testing via the hematologic molecular algorithm (HMA) at BJH is requested or planned to be requested. * Adult patients 18 years or older. * Ability to understand and willingness to sign an IRB approved written informed consent document. Inclusion Criteria Physician * Treating physician at Washington University School of Medicine who directs therapy for individuals with hematologic malignancies. * Able and willing to complete standardized questionnaires about usability, and stakeholder perceptions of ChromoSeq during the ChromoSeq implementation process. Exclusion Criteria Patient * Younger than 18 years of age Exclusion Criteria Physician * Does not treat patients at Washington University School of Medicine
Where it's running
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Washington University School of Medicine
St Louis, Missouri, United States Recruiting
Study contacts
- Principal investigator: Meagan Jacoby, M.D., Ph.D. — Washington University School of Medicine
- Study coordinator: Meagan Jacoby, M.D., Ph.D.
- Email: mjacoby@wustl.edu
- Phone: 314-747-8439
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.