Description
During the course, you will develop the skills to analyse genomic data and apply professional best practice guidelines, and an understanding of the fundamental principles of informatics. You will discover the impact of bioinformatics on clinical genomics and the relevant ethical, legal and social issues that need to be considered.
The module offers theoretical sessions and practical exercises involving the analysis and annotation of predefined data sets, as well as the opportunity to find and use major genomic and genetic data resources.
Learn from leading experts in genomics about:
- Genomic data flow from the patient through to the laboratory, to the clinician and then back to the patient.
- The assessment of data quality through application of quality control and statistical measures.
- How to align genome data to a reference sequence using up-to-date alignment algorithms.
- Measures to determine the analytical sensitivity and specificity of genomic tests.
- Tools to call sequence variants and annotate variant-call files using established resources.
- The use of multiple database sources, data integration tools, clinical literature and statistical evidence to prioritise variants for pathogenicity.
- Principles that apply to the integration of laboratory and clinical information, and the place of best practice guidelines for indicating the clinical significance of results.
- Approaches for assessing the functional effect of variants and basic statistical concepts, including probability and hypothesis testing.
- The relationship between data and information, and secure information exchange between professionals.
Learning outcomes
By the end of this module you will be able to:
- Understand how bioinformatics is used to analyse, interpret and report genomic data in a clinical context.
- Describe the principles applied to the quality control of sequencing data, alignment of sequence to the reference genome, calling and annotating sequence variants, and filtering strategies to identify pathogenic mutations in sequencing data.
- Critically appraise major data sources, including those of genomic sequences, protein sequences, variation and pathways.
- Explain how to integrate major data sources with clinical data to assess the pathogenic and clinical significance of the genome result.
- Explain how computational tools can be used to test hypotheses, and how statistical and performance measures are used to access sequencing data in both diagnostic and research settings.
- Use bioinformatics pipelines via Genomics England’s 100,000 Genomes Project.
- Apply professional best-practice guidelines in a diagnostic setting.
Funding rules
Funding covers course fees only and 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 provides limited funding to the Universities listed below. Please check with your preferred university to obtain details of the programme modules, entry criteria and the process for funding. See below for the key steps in the application process.
FAQs
The NHS trust that employs me is not part of a designated Genomic Medicine Centre. Can I still apply 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.
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 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 HEE-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.
