Using whole genome sequencing to improve diagnosis in myelodysplastic syndromes

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

Not applicable Interventional Washington University School of Medicine · NCT05434598

This study is testing if a new genetic testing method can help doctors diagnose myelodysplastic syndromes better than the usual methods.

Quick facts

PhaseNot applicable
Study typeInterventional
Enrollment60 (estimated)
Ages18 Years and up
SexAll
SponsorWashington University School of Medicine Academic / other
Locations1 site (St Louis, Missouri)
Trial IDNCT05434598 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 myelodysplastic syndromes (MDS). It involves collecting patient data and physician feedback to assess how well ChromoSeq can be integrated into routine diagnostic testing. The study is conducted at Washington University School of Medicine and aims to enhance the understanding of MDS through advanced genomic techniques.

Who should consider this trial

Good fit: Ideal candidates are adults diagnosed with MDS or suspected of having MDS who have not received prior disease-modifying therapies.

Not a fit: Patients who have previously undergone treatment for MDS or are younger than 18 years may not benefit from this study.

Why it matters

Potential benefit: If successful, this approach could lead to more accurate diagnoses and better treatment strategies for patients with myelodysplastic syndromes.

How similar studies have performed: While the use of whole genome sequencing is gaining traction, this specific application in MDS is relatively novel and has not been extensively tested in prior studies.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria Patient:

* Diagnosis of MDS, or a clinical suspicion for a new diagnosis of MDS, for whom routine diagnostic testing is requested or planned to be requested.
* Seen in the outpatient setting.
* Not been previously treated with disease-modifying therapy (such as lenalidomide or hypomethylating agents).

Note: Patients who have received transfusional support, erythropoietin-stimulating agents, growth factor support, or luspatercept are eligible.

At least 18 years of age.

-Able to understand and willing 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 stakeholder perceptions of ChromoSeq during the ChromoSeq implementation process. (Written documentation of informed consent is not required.)

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.
Conditions Whole Genome SequencingMyelodysplastic Syndromes
Last reviewed 2026-06-13 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.