Evaluating Whole Genome and Transcriptome Sequencing for Diagnosing Challenging Blood Cancers

What this Trial Is About

Researchers are investigating how new sequencing methods like whole genome sequencing WGS and whole transcriptome sequencing WTS can improve the diagnosis of blood cancers and related diseases. Current routine diagnostic methods rely on five main techniques and can diagnose 90% of cases, but 10% remain unclear. This study aims to see if WGS and WTS can provide more accurate diagnoses for these challenging cases, helping guide better patient care. The study observes patients who have unclear diagnoses after standard testing. Researchers will compare the diagnostic results from WGS and WTS alone to those from traditional gold standard methods. They will use a large reference collection of over 5,500 cases and an algorithm to match new patient profiles to similar known cases. The process for sequencing takes about 5 to 7 days, similar to current methods, and the study will follow patients for up to nine months after enrollment. Participants will provide samples containing at least 20% tumor cells from bone marrow or blood. Throughout the study, researchers will analyze sequencing data and compare it to standard diagnoses. They will also measure the time taken for diagnosis, actionable treatment targets, disease stage, and costs. The main outcome is determining if sequencing-only approaches can deliver better diagnoses, with assessments made at diagnosis and followed for about one year.

Solving Riddles Through Sequencing