A genetic condition is one that is caused by a change in an individual’s genome. The most common genetic conditions such as sickle cell disease affect around 15,000 people in the UK, with 300 babies born with the condition each year.
Genes play an important role in determining physical traits — how we look —and lots of other stuff about us. They carry information that makes you who you are and what you look like: curly or straight hair, long or short legs, even how you might smile or laugh. Many of these things are passed from one generation to the next in a family by genes.
My Genome Sequence part 1…
This “My Genome Sequence” video will help you to discover what your genome is and how the technology behind whole genome sequencing works.
The short animation, aimed at young people, explains what genome sequencing is and what happens when patients have their genome sequenced. It is of relevance to patients, their parents and anyone else who wants to learn more about the world of genetics and genome sequencing.
This film was created by Dr Celine Lewis, Senior Social Scientist at Great Ormond Street Hospital with funding from the Great Ormond Street Hospital Children’s Charity.
My Genome Sequence part 2…
Understand more about how having your genome sequenced can help doctors to find the cause of your condition. In the second animation in our series “My Genome Sequence”, we also explain some of the current limitations and uncertainties of genome sequencing.
This short follow-up animation, aimed at young people, is of relevance to patients, their parents and anyone else who wants to learn more about the world of genetics.
This film was created by Dr Celine Lewis, Senior Social Scientist at Great Ormond Street Hospital with funding from the Great Ormond Street Hospital Children’s Charity.
You can also find the films in a range of different languages and further information on the Great Ormond Street Hospital website.
This films showcases the work going on at the Great Ormond Street Hospital Zayed Centre for Research into Rare Disease in children. Including the Young Person’s Advisory Group who want to find out more about Gene Therapy in this short animation.
The film explains what many aspects of genetics are including:
Genomic England and working in partnership with NHS England and the NHS Genomic Medicine Service to develop a personalised and predictive healthcare solution through the use of genomics.
The NHS Genomic Medicine Service (NHS GMS) is the part of the NHS using genomic technology and science to improve the health of our population.
The aims of the NHS GMS are to provide:
Consistent and equitable care for the country’s 55 million people
A single National Genomic Test Directory covering use of all genomic technologies from single genes to whole genome sequencing
A national genomic knowledge base to provide real world data to inform academic and industry research and development
As part of your care, or care of a family member, you may be offered a type of genomic testing through the NHS Genomic Medicine Service
which involves whole genome sequencing. This means every letter of the 3 billion letters in your genome will be ‘read’ to create your unique genetic sequence. As well as being used for your clinical care, the data from your whole genome sequence is also useful for research.
It helps to find answers for you and others now and in the future, which could lead to diagnosis, access to a different treatment, or an
opportunity to participate in clinical trials.
You can find out more about ‘Understanding Genomics’ on the Genomic England website HERE
Genomic England have some fantastic resources to explain further about Rare Disease Genomics which can be viewed HERE
Genomics England have also published information for Clinicians about how to implement whole genome sequencing into routine
clinical practices. You can view all resources HERE
Genomics England’s very first initiative – sequencing 100,000 genomes from around 85,000 NHS patients affected by rare disease or cancer – is leading to groundbreaking insights and continued findings into the role genomics can play in healthcare.
By December 2018 100K genomes have been sequenced!!
With the aim to make genomics part of everyday healthcare, enhance genomic research and discover answers for people taking part.
Data from the study has led to a new diagnosis for 25% of the participants. Of these new diagnoses, 14% were found in regions of the genome that would be missed by other conventional methods, including other types of non-whole genomic tests. You can read more about the findings HERE
If you ever need to question why this is done, read the statement below from the Genomics England website:
“a baby who became severely ill immediately after birth and sadly died at four months but with no diagnosis and healthcare costs of £80,000. Analysis of his whole genome uncovered a severe metabolic disorder due to inability to take vitamin B12 inside cells explaining his illness. This enabled a predictive test to be offered to his younger brother within one week of his birth. The younger child was diagnosed with the same disorder but was able to be treated with weekly vitamin B12 injections to prevent progression of the illness.”
