Clinical trial NCT04986657: Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in AML and MDS
Official title: A Prospective Study of Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in AML and MDS
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Whole Genome Sequencing
Acute Myeloid Leukemia
Myelodysplastic Syndromes
Lead sponsor: Washington University School of Medicine
Sponsor class: OTHER
First posted: 2021-08-03
Enrollment: 275
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: DIAGNOSTIC

Brief summary: 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 diagnoses of acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS).


Eligibility 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

Primary outcomes:
measure: Sensitivity of ChromoSeq as measured by total number of recurrent structural variants identified
timeFrame: Through completion of all ChromoSeq tests (estimated to be 15 months)
measure: Sensitivity of ChromoSeq as measured by total number of copy number alterations identified
timeFrame: Through completion of all ChromoSeq tests (estimated to be 15 months)
measure: Sensitivity of ChromoSeq as measured by number of single nucleotide variants identified
timeFrame: Through completion of all ChromoSeq tests (estimated to be 15 months)
measure: Sensitivity of ChromoSeq as measured by number of insertion-deletions identified
timeFrame: Through completion of all ChromoSeq tests (estimated to be 15 months)
measure: Determine if risk-stratification using ChromoSeq correlates with overall-survival
timeFrame: Through completion of follow-up for all patients (estimated to be 63 months)
measure: Determine if risk-stratification using ChromoSeq correlates with event-free survival
timeFrame: Through completion of follow-up for all patients (estimated to be 63 months)
measure: Proportion of cases in which ChromoSeq provides new genetic information to the clinician
timeFrame: Through completion of all ChromoSeq tests (estimated to be 15 months)
measure: ChromoSeq turnaround time
timeFrame: Through completion of all ChromoSeq tests (estimated to be 15 months)
measure: Proportion of failed ChromoSeq assays
timeFrame: Through completion of all ChromoSeq tests (estimated to be 15 months)
Secondary outcomes:
measure: Stakeholder perceptions of ChromoSeq
timeFrame: Within 1 month after generation of ChromoSeq (estimated to be 2 months)
measure: Stakeholder perceptions of ChromoSeq as measured by the Acceptability of Intervention Measure
timeFrame: When 100 genomes have been sequenced (estimated to be 12 months)
measure: Stakeholder perceptions of ChromoSeq as measured by the Intervention Appropriateness Measure
timeFrame: When 100 genomes have been sequenced (estimated to be 12 months)
measure: Stakeholder perceptions of ChromoSeq as measured by the Feasibility of Implementation Measure
timeFrame: When 100 genomes have been sequenced (estimated to be 12 months)
measure: Stakeholder perceptions of ChromoSeq as measured by the System Usability Scale
timeFrame: When 100 genomes have been sequenced (estimated to be 12 months)
Other outcomes:
Locations:
city: Saint Louis
country: United States
facility: Washington University School of Medicine
state: Missouri
Study officials:
affiliation: Washington University School of Medicine
name: Meagan Jacoby, M.D., Ph.D.
role: PRINCIPAL_INVESTIGATOR
References: