Introduction to Human Genetics and Genomics


The Introduction to Human Genetics and Genomics module is a subject-specific lecture-based module in the MSc Genomic Medicine programme. This unit will provide essential and contemporary knowledge relating to genetic science and genetic disease.

From April 2019 we are introducing a new application process.

To apply for HEE funded modules please directly contact your chosen University. The application process flow chart can be found here.

HEE Commissioned places will be allocated on a modular basis only as funding is limited. Speak to your chosen University if you wish to complete more than one module leading to a PGCert, PGDip, or MSc qualification.

Course Description

The aim of this module is to provide the student with an introduction to the key areas of genomics, human genetics and genetic variation, and is the introductory module for the MSc programme.

The module will prepare participants to understand disease genetics, how genomic medicine can be utilised to elucidate disease mechanisms and biology, and appreciate the fundamentals of Information Governance in the context of genomic medicine. It will also provide core knowledge underpinning later modules in bioinformatics and statistics. This module will serve as a foundation for those wishing to advance their careers within the NHS in genomic medicine.

Outline Of Syllabus

This module will consider:

  • Architecture of the human genome and genetic variation within it
  • DNA sequence variation, type and frequency e.g. single nucleotide variants, small insertions and deletions, copy number variation, rearrangements and tandem repeats
  • How variation arises and its extent in populations (e.g. HapMap)
  • Gene regulation: enhancers, promoters, transcription factors, silencers
  • Epigenetics and imprinting
  • Mutational mechanisms: how different types of DNA variants affect gene function or expression to cause disease; correlation of genotype with phenotype
  • Concepts of heterogeneity and pleiotropy
  • Modes of inheritance for clinical manifestation of human variation
  • Legislation, Codes of Practise, Caldicott Guardian and Information Commissioner
  • Patient identifiable data and information, relationship between data and information
  • Information system risks to patient safety, electronic and paper copies, safe havens, encryption, secondary uses of data, audit and research
  • Secure information exchange between professionals
  • Sharing and communication with patients and careers, consent
  • Handling requests for information about patients /clients.

Additional information

Type of Course

CPPD Module

Course Options

CPPD (15 credits)

Mode of Study





Part Time

University Providers

Imperial College London, Queen Marys University of London / University College London, St Georges, University of London, University of Birmingham, University of Cambridge, University of Manchester


Start Date
University of BirminghamSeptember 2019
Newcastle University
University of ManchesterOctober 2018
University of Sheffield
Imperial College LondonOctober 2018
Queen Marys University of London / University College LondonSeptember 2018
St George’s, University of London / King’s College LondonSeptember 2018
University of CambridgeOctober 2018
University of Southampton
University of ExeterSeptember 2018

Please check the university providers websites for more detailed information about start dates, length and mode of study.

Funding Rules

Funding is limited to NHS healthcare professionals working in England from the full range of professional backgrounds and groups (such as medicine, nursing, healthcare scientists and technologists).  For those interested in CPPD modules, university entry requirements may include criteria around existing understanding and minimum English language requirements.

The Genomics Education Programme are limiting funding to a maximum of 3 stand alone modules in any one academic year. If your intention is to build up credits for a Postgraduate Certificate (PG Cert), a Postgraduate Diploma (PG Dip) or to gradually work towards a full Master’s, please apply for funding from the Masters in Genomic Medicine.

Not all universities offer the same CPPD modules. Please check with your preferred university to obtain details of the programme modules, entry criteria and timing before going through the funding application process.

Please download a visual flow diagram outlining the funding application and approval process.

Frequently Asked Questions

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

Funding is awarded for CPPD modules only and there is no automatic ability to defer completion of the programme. You should speak to your preferred University provider in the first instance about your situation and also contact the Genomics Education Programme team regarding funding.

How much study time is required to undertake this programme?

Study time will vary across the delivery partners. You are advised to visit your preferred University website site for more information or to contact the relevant course lead. Most modules generally involve approximately 5 days of face to face teaching, followed by between 2-4 weeks of independent study and assessment preparation.

A distance learning option is provided at Queen Mary University of London.

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

The process and ability to do this will be dependent on your preferred University and you should contact them to discuss available options.

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 for 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 provide some equitable access across professions on a national scale
I am not eligible for a HEE funded commissioned place – can I self-fund?

This should be discussed with your preferred University

Do you have to have the university place confirmed before you submit an application for funding?

No – as long as the programme start date for your preferred University falls within the specified academic year for the funding application period.

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

Yes – please provide details in the additional information section of the funding application form.

University Providers


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.

Imperial College LondonQueen Marys University of London / University College LondonSt Georges, University of LondonUniversity of BirminghamUniversity of CambridgeUniversity of Manchester