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Genomic Technologies in Clinical Diagnostics: Next Generation Sequencing

October 14 2019 - October 15 2019

Molecular Techniques- Next Generation Sequencing

Genomic Technologies in Clinical Diagnostics: Next Generation Sequencing


Join this free online course here!


Why join the course?

Powerful new technologies have been driving forward immense and exciting changes in clinical practice.

The days of peering down the microscope to detect chromosome abnormalities are gone, replaced by chromosome analysis at the genomic level. Invasive Down syndrome tests in pregnancy have made way for the evaluation of fetal DNA in maternal blood. And instead of laborious gene-by-gene targeted sequencing, we can now sequence all of our genes in parallel in a single experiment.

The course has been approved for distance-learning continuing professional development (CPD) by the Royal College of Pathologists (RCPath): for 10 CPD credits.


Understand and apply genomic sequencing technologies

This postgraduate-level course, in combination with Genomic Technologies in Clinical Diagnostics: Molecular Techniques, will help you understand these new and established genetic technologies, and their application to clinical practice.

This course focuses on genomic sequencing. By the end, you will be able to:

  • demonstrate an understanding of the molecular principles behind next generation sequencing (NGS) technologies;
  • identify appropriate applications of these technologies to clinical scenarios within both diagnostic and research settings;
  • and evaluate alternative applications of next generation sequencing technologies outside of DNA sequencing, such as RNA seq and ChIP-seq.


What topics will you cover?

  • The changing landscape of genomics: From Sanger sequencing to Next Generation Sequencing
  • Overview of Next Generation Sequencing platforms and their methodology
  • Targeted resequencing
  • Alignment, variant calling and annotation
  • Other applications of Next Generation Sequencing beyond DNA sequencing
  • Next Generation Sequencing in gene discovery
  • Gene discovery in the research and diagnostics
  • Next Generation Sequencing in clinical diagnostics: Single gene, gene panel sequencing, exome and genome sequencing
  • How to design a gene panel
  • The 100 000 Genomes project
  • The transforming NHS: Genomics in mainstream practice



United Kingdom


With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.