A Prospective Study of Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Whole Genome Sequencing
- Sponsor
- Washington University School of Medicine
- Enrollment
- 60
- Locations
- 1
- Primary Endpoint
- Proportion of failed ChromoSeq assays
- Status
- Recruiting
- Last Updated
- 4 months ago
Overview
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 diagnosis of myelodysplastic syndrome (MDS).
Investigators
Eligibility Criteria
Inclusion Criteria
- Not provided
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Proportion of failed ChromoSeq assays
Time Frame: Through completion of all ChromoSeq tests (estimated to be 24 months)
* As compared to failed standard of care genomic profiling assays * The proportion of first-run failures for ChromoSeq assays will be compared to the proportion of failed standard of care genomic profiling assays using a directional Fisher's exact test.
Rate of assay success on first attempt between ChromoSeq and conventional cytogenetics as measured by total number of recurrent structural variants identified
Time Frame: Through completion of all ChromoSeq tests (estimated to be 24 months)
-The number of recurrent structural variants detected by ChromoSeq will be compared to those detected by conventional cytogenetics using two non-inferiority tests for dependent samples using non-inferiority margin of 1%.
Rate of assay success on first attempt between ChromoSeq and conventional cytogenetics as measured by total number of copy number alterations identified
Time Frame: Through completion of all ChromoSeq tests (estimated to be 24 months)
The number of copy number alterations detected by ChromoSeq will be compared to those detected by conventional cytogenetics using two non-inferiority tests for dependent samples using non-inferiority margin of 1%.
Secondary Outcomes
- Stakeholder perceptions of ChromoSeq(Through 1 month after generation of ChromoSeq for all patients enrolled (estimated to be 25 months))