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At a Glance

Up to 6 weeks
Accredited
Part Time
CPPD (15 credits)
Blended learning, Online

Variant Interpretation

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This course introduces you to the process of clinical variant interpretation. You will explore how annotation tools and a range of databases and algorithms are used to assess the potential impact of genomic variants. The module looks at the principles of variant classification, phenotype correlation, predictive modelling and functional data. It also considers how variant interpretation is applied in clinical practice.

The module is part of the NHS England Genomics Education Programme’s Master’s in Genomic Medicine framework. 

Description

This module explores the purpose of clinical genetic testing and its impact on patient care. You will learn how genomic data flows from the patient to the laboratory, then to the clinician, and back to the patient, giving you insight into the complete diagnostic pathway. You will examine how genetic tests are designed, including assay types, gene selection and the resulting outputs, such as variant annotation and clinical classification.

You will develop an understanding of the genetic principles that underpin evidence-based assessment of variant effects, and learn how to use multiple database sources and clinical literature in variant classification. This includes evaluating the advantages and limitations of automated classification tools ClinVar and ClinGen. You will also explore how laboratory classifications are integrated with clinical interpretation and where to find best-practice guidelines, such as the ACMG framework and the UK ACGS guidelines, to determine the clinical significance of results.

The module will introduce you to the multidisciplinary team (MDT) process, including how MDT meetings support clinical variant interpretation in practice. You will consider the role of genetic counselling and issues related to family screening, as well as the ethical and legal considerations associated with clinical genomics. Topics include patient data security, population diversity and its impact on variant interpretation, changes in variant classification over time, reporting of incidental findings, and cascade testing of relatives.

Learning outcomes

By the end of this module you will be able to:

  • Interpret evidence (including population, phenotype, inheritance, predictive and functional data) used for variant classification.
  • Evaluate a range of genomic variant reports in human disease.
  • Apply relevant national and international guidelines to classify genomic variants.
  • Discuss the strengths and limitations of variant interpretation in an MDT setting.

Funding rules

The Genomics Education Programme offers funding on a modular basis, initially covering 1-4 modules, with the potential for additional funding for the full Master’s degree upon demonstrating satisfactory progress. The maximum amount of funding available to each student is the equivalent of 12 modules (180 credits), to cover the full Master’s degree.

Funding covers course fees only and is limited to NHS healthcare professionals working in England on a permanent contract from the full range of professional backgrounds and groups (such as medicine, nursing, midwifery, healthcare scientists and technologists).

Applicants must have the support of their line manager. Without this, funding cannot be approved, as line manager support is essential to ensure learners are able to apply their knowledge and skills in practice and are supported both operationally and academically. Funding decisions are made jointly with the system to support service development.

Funding is allocated on a modular basis for each financial year and is not guaranteed year on year. Eligibility criteria may also be subject to change annually.

The Genomics Education Programme provides limited funding to the universities listed below. Please check with your preferred university to obtain details of the programme modules and entry criteria. This may include criteria around existing understanding and minimum English language requirements.

For information about how to apply for either CPPD module(s)/postgraduate certificate or postgraduate diploma/Master’s degree, see the Master’s in Genomic Medicine application process.

Timetable

 University Start date
City St George’s, University of London 7 December 2026 (1 March 2027 for online)
Queen Mary University of London TBC
University of Birmingham 30 November 2026
University of Cambridge TBC
University of Exeter TBC
University of Manchester 8 December 2026

Please check your preferred university’s website for more detailed information about start dates, length and mode of study.

FAQs

I have previously applied and received funding for two modules, but would like to complete two more. Is it possible to transfer my studies to another university?

Yes.  You will need to speak to your chosen university re your requirements. You must also meet the Genomics Education Programme eligibility criteria for funding.

I have previously applied and received funding for two modules, but would like to complete two more. Is it possible to obtain funding?

Yes.  You will need to speak to your chosen university re your requirements. You must also meet the Genomics Education Programme eligibility criteria for funding

I have been awarded funding and started the programme, but I am unable to complete. What are my options?

Funding is awarded for the period specified in the application form and there is no automatic ability to defer completion of the programme. You should speak to your university in the first instance about your situation and also contact the Genomics Education Programme (GEP) team regarding funding.

You may choose to reduce the workload of your programme by switching from, for example, a full Master’s degree to a diploma or certificate. Again, you would need to contact your course provider and the GEP.

How much study time is required to undertake this programme?

Study time will vary across the course providers. You are advised to visit your preferred university’s website for more information or to contact the relevant course lead. Most modules involve around 5 days of face-to-face teaching, followed by 2-4 weeks of independent study and assessment preparation. However, distance learning options are available for most universities.

 

Can I build up my CPPD modules to a full Master’s, PGDip or PGCert qualification?

Funding is allocated on an individual module basis only. Candidates who meet the Genomics Education Programme eligibility criteria for funding can apply for up to four funded modules in the first instance. If you wish to progress to a full Master’s or PGDip, you should discuss options with your chosen university.

I am eligible but have been refused a commissioned place – why?

This may be due to the following potential reasons:

  • The university you have applied to has used up all its commissioned allocations.
  • The total number of available national commissions have been fully allocated.
  • We are now applying controls to the commissioned places based on healthcare profession roles to help ensure equitable access across professions on a national scale.

I am not eligible for a NHS-funded place – can I self-fund?

This should be discussed with your preferred university.

I work for an organisation that provides services to the NHS – am I eligible to apply?

Yes – please provide details of your organisation and its services for the NHS when you apply to your preferred university.

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University Providers

Funded

The logos below indicate the university providers that are able to accept HEE funded applications for this course. Follow the links provided to begin your university application process.

City St George's, University of LondonQueen Marys University of London / University College LondonUniversity of BirminghamUniversity of CambridgeUniversity of ExeterUniversity of Manchester

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