Genetic Variation and ACMG Guidelines – Clinical Genomics Course
Join St. George’s, University of London to study the core principles of genomic variant interpretation and enhance your working knowledge of the ACMG guidelines.
Who is the course for?
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.
What topics will you cover?
Review normal genetic variation.
The evolution of genomic testing technologies and the nomenclature used for genomic variation.
How genomic variant classification affects patient care.
Tools for genomic variant interpretation.
Ethics of genomic variant interpretation.
The American College of Medical Genetics and Genomics (ACMG) & Association for Clinical Genomic Science (ACGS) guidelines.
The role of multidisciplinary team (MDT) meetings in variant. interpretation and the importance of good communication skills.
Genomic variant interpretation in practice.
What will you achieve?
By the end of the course, you‘ll be able to…
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.
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