Certificate of Achievement
Josefina del Pilar Martinez Vasquez
has completed the following course:
Interpreting Genomic Variation: Fundamental Principles
St George's, University of London and CanGene CanVar
This online course explored the principles and language of genomic variant interpretation and the American College of Medical Genetics and Genomics (ACMG) guidelines. The course covered topics such as Normal Genomic Variation, Variant classification, Tools for variant Interpretation, Ethics of genomic variant interpretation, The American College of Medical Genetics and Genomics (ACMG) guidelines for variant interpretation, and Genomic variant interpretation in practice.
3 weeks, 4 hours per week
Dr Kate Tatton-Brown
Professor in Clinical Genetics and Genomic Education
St George's, University of London
Transcript
Learning outcomes
- 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.
Syllabus
- 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.
Issued on 24th February 2022
The person named on this certificate has completed the activities in the transcript above. For more information about Certificates of Achievement and the effort required to become eligible, visit futurelearn.com/proof-of-learning/certificate-of-achievement.
This certificate represents proof of learning. It is not a formal qualification, degree, or part of a degree.