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Interpreting Genomic Variation: Fundamental Principles

Learn the principles and language of genomic variant interpretation and enhance your working knowledge of the ACMG guidelines.

2,869 enrolled on this course

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Interpreting Genomic Variation: Fundamental Principles

2,869 enrolled on this course

  • 3 weeks

  • 4 hours per week

  • Digital certificate when eligible

  • Introductory level

Find out more about how to join this course

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.

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.

When would you like to start?

Start straight away and join a global classroom of learners. If the course hasn’t started yet you’ll see the future date listed below.

  • Available now

Learning on this course

On every step of the course you can meet other learners, share your ideas and join in with active discussions in the comments.

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.

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.

Who will you learn with?

I'm a Consultant and Reader in Clinical Genetics. In addition to my clinical role, I am engaged in genomic research and am committed to improving medical education.

I'm a Genetic Counsellor and Honorary Clinical Lecturer in Cancer Genomics.

I work as an Education Development Lead within the National Genomics Education team, NHS England. By background I am a doctor, specialised in clinical genetics.

Who developed the course?

St George's, University of London

St George’s is the UK’s only university dedicated to medical and health sciences education, training and research.

CanGene CanVar

CanGene CanVar is a five-year Cancer Research UK-funded research program which develops data resources, clinical and educational tools to leverage cancer susceptibility genetic for early detection and prevention of cancer.

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Ways to learn

Choose the best way to learn for you!

Buy this course

$109/one-off payment

Fulfill your current learning need

  • Access to this course
  • Learn at your own pace
  • Discuss your learning in comments
  • Printed and digital certificate when you’re eligible

Subscribe & save

$349.99 for one year

Automatically renews

Develop skills to further your career

  • Access to this course
  • Access to 1,000+ courses
  • Learn at your own pace
  • Discuss your learning in comments
  • Digital certificate when you're eligible

Cancel for free anytime

Limited access


Sample the course materials

  • Access expires 5 Aug 2024

Find out more about certificates, Unlimited or buying a course (Upgrades)

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  • Complete 90% of course steps and all of the assessments to earn your certificate

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