Study on Genetic Testing for Early Detection of Pre-Myeloid Cancers and Bone Marrow Failure Syndromes

What this Trial Is About

Researchers are studying next generation sequencing NGS to detect early signs of pre-myeloid cancers and bone marrow failure syndromes. This approach examines genes linked to cancer to find genetic markers that may identify patients at risk before full cancer develops. The study aims to diagnose and better understand these precursor conditions, their progression risks, and to explore possible therapeutic directions using genomics and functional studies. Participants may undergo various procedures including blood sample collection, bone marrow biopsy, skin punch biopsy, hair follicle collection, buccal swab, and saliva collection for NGS analysis. Additional clinical assessments and genetic counseling may be provided. The study also includes ancillary evaluations like quality-of-life assessments and electronic health record reviews to support research objectives. During the study, participants will have samples collected and may receive clinical evaluation and counseling. Researchers will monitor outcomes such as the occurrence of cytopenias, myelodysplastic syndrome MDS, and acute myeloid leukemia AML for up to five years. The study involves careful analysis of genetic and epigenetic data, as well as assessments of frailty compared to standard care. The total follow-up period can extend up to several years to observe disease progression and related outcomes.

Pre-myeloid Cancer and Bone Marrow Failure Clinic Study