Using whole genome sequencing to improve diagnosis in blood cancers

A Prospective Study of Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in AML and MDS

NA · Washington University School of Medicine · NCT04986657

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

PhaseNA
Study typeInterventional
Enrollment325 (estimated)
Ages18 Years and up
SexAll
SponsorWashington University School of Medicine (other)
Locations1 site (St Louis, Missouri)
Trial IDNCT04986657 on ClinicalTrials.gov

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.

Who should consider this trial

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.

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.

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 performed: 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.

Eligibility criteria

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 this trial is running

St Louis, Missouri

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.

View on ClinicalTrials.gov →

Conditions: Whole Genome Sequencing, Acute Myeloid Leukemia, Myelodysplastic Syndromes

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.