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AMP reports on use of guidelines for sequence variants in cancer

January 2023—The Association for Molecular Pathology last month released a report on somatic variant classification using 2017 standards and guidelines for interpreting and reporting such variants, which were a consensus recommendation of the AMP, CAP, and American Society of Clinical Oncology.

The new report is based on variant interpretation challenges and a guideline implementation survey conducted by an AMP working group (Li MM, et al. J Mol Diagn. Published online Dec. 9, 2022. doi:10.1016/j.jmoldx.2022.11.002). The group’s aim was to identify classification inconsistencies and evaluate barriers to implementing the 2017 standards and guidelines (Li MM, et al. J Mol Diagn. 2017;19[1]:4–23).

In the guidelines, the AMP, CAP, and ASCO proposed a tiered system to categorize somatic sequence variants. In tier one are variants with strong clinical significance; tier two, variants with potential clinical significance; tier three, variants of unknown clinical significance; and tier four, variants deemed benign or likely benign (most commonly representing rare germline variants with no known cancer association).

There were 134 participants in the variant interpretation challenge, and 86 percent correctly differentiated clinically significant variants from variants of uncertain significance and benign/likely benign variants. More than 70 percent agreed in judging the potential for germline variants. Seventy-one percent of respondents to the implementation survey (157/220) implemented the guidelines for variant classification and more than 90 percent of them used the recommended tier-based reporting system.

FDA clears Roche’s CSF assays for Alzheimer’s

Roche’s Elecsys beta-Amyloid (1-42) CSF II (Abeta42) and Elecsys Phospho-Tau (181P) CSF (pTau181) assays have received Food and Drug Administration 510(k) clearance. The Elecsys AD CSF Abeta42 and pTau181 assays (used as a pTau181/Abeta42 ratio) measure beta-amyloid and tau proteins in adults 55 and older evaluated for the disease. Both assays are traceable to reference materials.