Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS

The Washington University

Status: Enrolling

Conditions: Whole Genome Sequencing; Myelodysplastic Syndromes

Treatments: Device: ChromoSeq

Study type: Interventional

Funder types: Other

Identifiers

NCT05434598

202206077

Details and patient eligibility

About

This is a single institution, prospective study of the whole genome sequencing assay, ChromoSeq. Using prospectively collected patient data, coupled with physician surveys, the investigators seek to determine the feasibility of implementing ChromoSeq in addition to standard genomic testing, for patients with the diagnosis of myelodysplastic syndrome (MDS).

Enrollment: 60 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion and 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

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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60 participants in 2 patient groups

Patients: ChromSeq

Experimental group

Description:

ChromoSeq will be performed on bone marrow or peripheral blood DNA from consented patients in parallel with the standard of care cytogenetics, FISH, and the MyeloSeq gene panel obtained from that sample, in a CLIA licensed environment using CLIA-compliant ChromoSeq procedures.

Treatment:

Device: ChromoSeq

Stakeholders (Treating Physicians)

No Intervention group

Description:

Stakeholders (treating physicians) will complete surveys/questionnaires