Interpretation in Genomic Medicine

Learning Outcomes

Learning Outcomes

Having successfully completed this module you will be able to:

• Apply relevant guidelines for variant interpretation.
• Integrate information from clinical records and genomic data.
• Critically appraise and apply information from literature, databases and predictive tools for variant classification.
• Demonstrate an understanding of the processes and requirements for generating genomic interpretation reporting in a clinical context.

Relevant information required at referral for genetic testing to allow meaningful genomic interpretation.

Identification and evaluation of appropriate literature sources to inform data interpretation.

Standard evidence frameworks for evidence synthesis available for variant interpretation.

Best practice guidelines for variant reporting.

Application of population genomic resources.

In silico predictive tools to support variant interpretation, and their limitations.

Details of the multidisciplinary approach to variant interpretation in clinical practice.

Teaching and learning methods

The module will comprise teaching, supplemented by online teaching resources.

A variety of learning and teaching methods will be adopted to promote a wide range of skills and meet the differing learning styles of the group.

The teaching will include seminars, practical demonstrations, discussions and exercises surrounding interpretation of data and clinical scenarios, and specialist lectures given by a range of academic and health care professionals. This will ensure a breadth and depth of perspective, giving a good balance between background theories and principles and practical experience.

Off-site independent learning will take place on the virtual learning environment hosted by the UoS.

Resources & Reading list

Journal Articles

Richards, S., Aziz, N., Bale, S. et al. (2015). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 17, pp. 405-423.

Assessment strategy

The assessment for the module provides you with the opportunity to demonstrate achievement of the learning outcomes. In addition to the summative assessments, during the course of the module there will be opportunities to obtain feedback in the form of unassessed, formative activities.

The pass mark for this module is 50%; if you have failed the module, the Board of Examiners may offer you the opportunity to submit work at the next referral (re-sit) opportunity.

Formative

This is how we’ll give you feedback as you are learning. It is not a formal test or exam.

Summative

This is how we’ll formally assess what you have learned in this module.

Referral

This is how we’ll assess you if you don’t meet the criteria to pass this module.

Repeat Information

Repeat type: Internal & External