Interpreting Genomic Variation: Fundamental Principles

Discover the principles of genetic variant interpretation

Our individual genomes make us unique, and contribute to both rare and common disease.

In genomic testing, it’s vital to distinguish the clinically relevant, disease-causing variant from its background normal genomic variation in order to safely manage patients.

Get variant interpretation training for effectively managing patients

This course is designed to educate health professionals involved in the variant journey from the laboratory to the patient.

You’ll explore the fundamental principles of variant interpretation and review the American College of Clinical Genetics and Genomic (ACMG) and The Association for Clinical Genomic Science (AGCS) guidelines. You will also take a detailed look at the tools available to aid genomic variant interpretation.

Study the ACMG and ACGS guidelines in theory and practice

The ACMG and ACGS guidelines were developed to promote consistency in the tools used to classify a genomic variant as pathogenic, likely pathogenic, likely benign, benign, or uncertain.

You’ll explore how the ACMG evaluated each of the tools and applied a weighting, as well as the algorithm developed to combine the evidence from each of these tools.

You’ll be encouraged to apply your learning through workshopped examples that illustrate both the strengths and weaknesses of the ACMG tools and framework.

This course is part of a series with Interpreting Genomic Variation: Inherited Cancer Susceptibility.

This course is designed for all health professionals who require knowledge of the basic principles of variant interpretation and applying ACMG guidelines.

This may include: - genomic specialists leading on variant interpretation - clinical scientists - clinical geneticists - genomic counsellors

It will also be useful for genomic champions, eg the clinical specialist who will be attending multi-disciplinary genomic variant interpretation meetings and will need to understand the principles and language of genomic variant interpretation.

This course is designed for all health professionals who require knowledge of the basic principles of variant interpretation and applying ACMG guidelines.

This may include: - genomic specialists leading on variant interpretation - clinical scientists - clinical geneticists - genomic counsellors

It will also be useful for genomic champions, eg the clinical specialist who will be attending multi-disciplinary genomic variant interpretation meetings and will need to understand the principles and language of genomic variant interpretation.

• Describe the different types of genomic variants and interpret the impact of different variant types in the context of normal background genomic variation.
• Apply the tools used in variant classification (including population databases, inheritance data, predictive data, functional data and phenotype) to interpret genomic variation.
• Apply the American College of Medical Genetics (ACMG) variant interpretation framework (including updates from the Association for Clinical Genomic Science (ACGS) to classify variants in rare disease genes and appraise the outputs.
• Evaluate the value of the multidisciplinary team (MDT) approach in ensuring high-quality variant interpretation and patient care, and learn how to communicate efficiently in an MDT setting.
• Evaluate the strengths and weaknesses of each of the tools available for variant interpretation.