Molecular Genetic Pathology:
Core Principles and Applications
in Neoplastic Disease Series
There is a clear need in Canada for practicing pathologists and residents to better understand the fundamentals of molecular genetic pathology, and the diverse rapidly evolving molecular test methodologies. This knowledge base is becoming increasingly essential to properly ordering molecular tests, interpreting findings in the clinicopathologic context, and investigating discordant/unexpected results – all of which are vital to best patient care. This proposed CAP-ACP Virtual Education Series is an introduction to Molecular Genetic Pathology and covers core principles and applications in neoplastic disease. The material is intended for practicing pathologists and pathology residents across Canada and is pertinent to all pathology specialties that interact with neoplastic disease. Collaboration between the Alberta Molecular Pathology Program (AMPP) and Ontario Molecular Pathology Research Network (OMPRN) will leverage the combined assets and expertise of both organizations to deliver a mixed-learning experience incorporating:
- Online e-learning modules
- Interactive live synchronous sessions
- A forum for engagement with subject matter expert
Dr. Erik Nohr, Molecular Pathologist, Alberta Precision Laboratories
Dr. Kyster Nanan, Education Lead and Project Manager, OMPRN
Dr. Harriet Feilotter, Professor, Queen’s University; Director Molecular Genetics Laboratory at KHSC; Director, OMPRN
- Describe general concepts related to the structure and function of the human genome, genes, and nucleic acids; cell cycle; DNA replication and repair; transcription and translation and regulation of gene expression.
- Explain the roles and mechanisms of genomic variation in inherited and somatic disease and recognize how they inform the principles and best practices of pathology.
- Describe in general terms how common molecular testing methodologies work, including next generation sequencing (NGS).
- Describe biospecimen quality and tissue selection considerations (including tumor percentage) that impact molecular testing.
- Distinguish between classes of variants, recognize proper variant nomenclature, and describe the effect of variants on gene/mRNA/protein function.
- List the general categories of evidence used to annotate variants in somatic and germline settings.
- Compare and contrast the unique strengths and weaknesses of common testing methodologies to detect each major class of variants (SNVs, indels, gene fusions, copy number variants, loss of heterozygosity / regions of homozygosity), and changes in gene expression and the methylome; describe how these relate to the choice of testing methodology for specific applications in pathology; and give examples of how differences in testing methodology can explain discordant/unexpected results.
- List performance metrics of a molecular assay that need to be determined during molecular test validation and describe general aspects of molecular laboratory quality control and quality assurance.
- Interpret molecular pathology test results and incorporate their diagnostic, prognostic, or predictive implications in an integrated pathology report.
Developed in partnership with: