|The following article features coverage from the American Society of Hematology 2020 meeting. Click here to read more of Cancer Therapy Advisor‘s conference coverage.|
The American Society of Hematology Somatic Working Group (SWG) presented an update on an application it has developed to serve as a resource for next-generation sequencing (NGS) diagnostics.
“The landscape for these resources is extremely heterogenous,” said Niroshan Nadarajah, of MLL Leukemia Laboratory, Munich, Germany, who presented the update at the virtual 62nd American Society of Hematology (ASH) Annual Meeting and Exposition. “We anticipate this [application] will lead to more consistency in molecular testing reports for patients.”
The SWG was formed 2 years ago to improve clarity around the various gene panels used in the hematology community and in the reporting of genetic variants associated with hematologic malignancies. The group is comprised of hematologists, hematopathologists, molecular biologists, and bioinformaticians.
To form this application, the SWG collected a list of genes typically used in research or clinical laboratory applications at 8 different specialized laboratories. It collected the variants within those genes and their respective internally developed tiering and interpretations among 6 laboratories, as well as the institutional bioinformatics pipelines used for those interpretations.
Initially, a list of 679 genes was collected from 8 contributors. The group was able to identify 70 genes most commonly used in assays for myeloid and lymphoid diseases.
A 3-class system was used to define somatic pathogenicity:
- Pathogenic variants are those that have been clearly determined to be associated with tumorigenesis.
- Variants of unknown significance may have evidence supporting or refuting the effect of somatic pathogenicity. The evidence is not yet strong enough to classify it as pathogenic or benign.
- Benign variants have been determined not to drive tumorigenesis.
The working group received 5622 unique variants from all submitters. There were 1250 variants contributed by 2 or more submitters, and 399 contributed by 3 or more submitters. In the end, the SWG was able to identify 202 variants of high confidence in 42 of 70 genes investigated.
The results will be available as a manuscript on best practices in the field and in a searchable web application.
“The link is already accessible,” Dr Nadarajah said.
“The high-confidence data will be updated regularly, with evidence provided to support classification,” he added. “The intent is to aid other clinicians and investigators to conduct NGS diagnostics.”
Disclosures: Some of the presenters disclosed financial relationships with the pharmaceutical industry and/or the medical device industry. For a full list of disclosures, please refer to the presentation abstract.
Read more of Cancer Therapy Advisor‘s coverage of the ASH 2020 meeting by visiting the conference page.
Nadarajah N, Wagner A, Bejar R, et al. Creating a variant database for the American Society of Hematology by consensus variant classification of common genes associated with hematologic malignancies. Presented at: the 62nd American Society of Hematology (ASH) Annual Meeting and Exposition; December 5-8, 2020. Abstract 360.