Learn the principles and language of genomic variant interpretation and enhance your working knowledge of the ACMG guidelines.
This course is made available through the eLearnAfrica and FutureLearn partnership.
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.
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.
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.
Certificate cost may vary. You will be redirected to the host page for cost and payment options.
St George’s is the UK’s only university dedicated to medical and health sciences education, training and research.
The university provides a world-class multi-professional health sciences education that equips graduates to meet today’s healthcare needs through relevant scientific research, clinical excellence, strong interpersonal skills and team-based working. Sharing a clinical environment with a major London teaching hospital, its innovative approach to education results in well-rounded, highly skilled clinicians, scientists, and health and social care professionals.
St George’s has more than 250 years of excellence and innovation in research and education resulting in groundbreaking advances in medicine and healthcare. Alumni include Edward Jenner, John Hunter, Muriel Powell and Patrick Steptoe. The university has three research institutes focus on biomedical and scientific discovery, advancing the prevention and treatment of disease in the fields of population health, heart disease and infection - three of the greatest challenges to global health in the 21st century.
This institution is available on eLearnAfrica through partnership with FutureLearn.
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Effective Date: September 22, 2016