2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Validation of Myeloid Neoplasm Next Generation Sequencing Panel for Acute Myeloid Leukaemia and Myeloid Malignancies in Singapore

Pdf Summary

The study aimed to validate the use of a targeted next-generation sequencing (NGS) panel, called the Oncomine Myeloid Research (OMR) Assay, for the comprehensive analysis of genetic alterations associated with myeloid malignancies. The panel was designed to analyze 40 DNA genes and 29 RNA fusion driver genes. <br /><br />The validation process involved testing 101 DNA samples and 91 RNA samples from peripheral blood and bone marrow, as well as 12 external quality assurance samples. The NGS library was constructed using DNA and RNA samples, and the sequencing was performed using the Ion Torrent PGM system. The data was analyzed using bioinformatics software.<br /><br />The results of the validation showed that the OMR panel achieved a sensitivity, specificity, and accuracy of 100% for DNA variants and RNA fusions that were previously detected using conventional testing methods. The limit of detection for single nucleotide variants (SNVs) was 3-5%, for indels was 10%, and for RNA fusions was 2 log reductions.<br /><br />The study also demonstrated the repeatability and reproducibility of the OMR panel. Repeatability tests showed consistent variant allele frequency (VAF) concordance for 32 variants from the same library preparations in different sequencing runs. Reproducibility tests showed consistent VAF concordance for 27 variants from different sequencing runs performed by different operators.<br /><br />The authors concluded that the OMR panel on the Ion Torrent PGM platform is highly accurate, reproducible, and efficient. It can provide a comprehensive analysis of genetic alterations in myeloid malignancies, allowing for the assignment of patients to diagnostic categories, risk stratification, and personalized therapy guidance.<br /><br />Overall, the study validated the use of the OMR panel as a single test platform for the analysis of genetic alterations in myeloid malignancies, offering a more efficient and cost-effective alternative to conventional testing methods.

Asset Subtitle

Presenting Author - Hein Than, MBBS; Co-Author - Si Jie Khoo, MSc; Co-Author - Gek San Tan, PhD; Co-Author - Charles Chuah, MBBS; Co-Author - Tony Lim, MBBS; Co-Author - Gee Fung How, PhD;

Meta Tag

Bioinformatics

Companion Diagnostics

Genetic Testing

Identification of Disease Genes

NextGen Sequencing

Co-Author Si Jie Khoo, MSc

Co-Author Gek San Tan, PhD

Co-Author Charles Chuah, MBBS

Co-Author Tony Lim, MBBS

Co-Author Gee Fung How, PhD

Presenting Author Hein Than, MBBS

Keywords

next-generation sequencing

Oncomine Myeloid Research Assay

genetic alterations

myeloid malignancies

DNA genes

RNA fusion driver genes

sensitivity

specificity

accuracy

Ion Torrent PGM system