“It’s changed our lives”
Archive footage reproduced by kind permission of Rick Cresswell. We’d like to open with a video of Emma describing what a difference genetic testing has made for her son Jack, …
Course: Genomic Medicine: Transforming Patient Care in Diabetes
Thank you for participating
We hope you have enjoyed learning about how genomic medicine is transforming patient care in diabetes. Thank you for participating, and we hope you will continue to follow developments in …
Direct-to-consumer genetic testing
You may not like what your “genetic selfie” tells you. By kind permission of Penelope Dullaghan, http://penelopeillustration.com/ Obesity and exercise are the major risk factors influencing development of type 2 …
Insurance and monogenic diabetes
We learnt in Week 1 that family history is a major risk factor for developing diabetes. But once a genetic diagnosis of monogenic diabetes has been made, unaffected family members …
Incidental findings in genomic testing for diabetes
The benefit of using next generation sequencing (NGS) to provide a single test for all known genetic subtypes for patients with genetically heterogeneous conditions such as MODY is obvious – …
The 100,000 Genomes Project
In 2012 the UK Prime Minister, David Cameron, announced plans for the 100,000 Genomes Project. This ambitious project will deliver the sequences of 100,000 genomes from NHS patients by the …
Unsolved cases
When Genome Sequencing just isn’t enough Although next generation sequencing (NGS) allows for a comprehensive analysis of DNA from individuals with suspected monogenic disease, it does not always identify the …
Exome sequencing strategies to identify new disease genes
Using next generation sequencing we can sequence all the ~20,000 genes in the human genome in one single test. This approach is called whole exome sequencing. The coding regions (i.e. …
Introduction to Next Generation Sequencing (NGS)
In Week 3 we introduced you to the traditional techniques used for genetic testing: PCR and Sanger sequencing. These techniques allow the analysis of around 500 nucleotides of DNA a …
Finding the cause of Tom’s rare syndrome
MDP syndrome (Mandibular hypoplasia, Deafness and Progeroid features) is an extremely rare metabolic disorder that prevents fatty tissue from being stored underneath the skin. These are the characteristic features: mandibular …
Acknowledgements
The team would like to thank the following people for their contribution to the course: Dr Pam Bowman, Academic Clinical Fellow Anna Bussell, Genetic Technologist at Royal Devon & Exeter …
Pre-symptomatic testing
Pre-symptomatic testing in this context is where a genetic test is offered to an individual not known to have the condition (in this case diabetes) where another family member has …
Which relatives to test?
Once a monogenic cause of diabetes has been identified in one individual then other family members with diabetes should also be offered genetic testing to see if they also have …
Genetic Test Result: What Is in the Written Report?
The results of the DNA sequencing analysis are communicated in the form of a written report. Below is an example of a genetics report. You can open a pdf version …
Interpreting the Sanger sequence data
A typical electropherogram from a single PCR product is shown below. Each peak represents a single nucleotide in the DNA sequence, and each nucleotide has a different colour; A is …
These articles are from the online course:
Genomic Medicine: Transforming Patient Care in Diabetes