One Hundred Thousand Genome Project: A Genetic Breakthrough

In the wake of the Human Genome Project, which completed the sequencing of the entire human genome in 2003, the British Prime Minister in 2012 (David Cameron) announced the launch of the 100,000 Genome Project. This project took the Human Genome Project a step further, with the aim to sequence 100,000 genomes of patients with cancer and rare diseases. The project looked specifically at how the individuals’ genomes contribute to the development of disease, whilst also providing information which could improve disease diagnosis and personalised treatment. The project completed in 2018, and the findings were both vital and ground-breaking.

To give some clarity on the hierarchy of what makes us, us, think about the image that we see when we talk about DNA: the spiralling ladder. Each of the ‘steps’ of the ladder are called bases and there are four different bases in DNA: Adenine (A), Thymine (T), Guanine (G) and Cytosine (C). In total, there are around 3 billion bases in a person’s genome, and the order of these bases is called our DNA sequence. When we talk about our genomes, we are referring to all the genetic material in our bodies, and there is a copy of our genome in almost every healthy cell in a body. But with billions of bases making up a genome, how on earth do we work out the order of them all?

The Human Genome Project set out to do just that, completing the arduous task in 13 years. It was a phenomenal breakthrough and revealed insights about human genetics which is still being researched today. One of the interesting things found was that, despite there being billions of bases, there are only around 20,000 genes (sections of DNA which directly control how our bodies work). This means that nearly 95% of our DNA is made up of non-coding regions (sections which don’t directly control how our bodies work). We still aren’t sure what all these non-coding regions do, but they may play a role in influencing, regulating, and controlling genes, so are still important to consider when looking at human genomes. Although the Human Genome Project provided a vital ‘blueprint’ of genetic material, it did not recognise the differences between individuals. For this, we needed to complete genetic sequencing on a much larger scale, and so was born the 100,000 Genome Project.

The project sequenced the genomes of over 97,000 patients affected by rare disease or cancer, and their families. But why do we look at genetics when investigating rare disease and cancer? Well, if there is an accidental change (mutation) in the DNA sequence, meaning one or more of the bases is removed or swapped for another base, (which happens naturally and randomly as well as due to mutagens like UV and chemicals) this may change the way a gene works, or the way a gene is regulated. This may cause a fault in a system in the body, which in turn may then cause a disease or disorder to develop. Therefore, the 100,000 Genome Project combines the genomic information of an individual with information regarding that person’s health and physiology to gain a bigger picture on how changes to genetic sequence contribute to the development of different diseases and disorders. They can use this information to diagnose a patient and even predict a patient’s response to treatment.

For example, the cause of breast cancer is a change in DNA sequence in a normal cell. This change effects the cell’s ability to divide, causing it to replicate out of control, into a tumour. A patient diagnosed with breast cancer can have a sample taken from a mutated cell as well as from a normal cell. Geneticists can sequence the genomes of the two samples to see where the change in DNA sequence is. If the difference is in the HER2 gene, making the individual HER2 Positive, then this person will benefit more from Herceptin treatment to target the symptoms of this mutation. This is just one example of how vital the 100,000 Genome Project has been in not only providing valuable information on the function of the genome but also providing personalised treatment which could be potentially lifesaving.

The 100,000 Genome Project has been a breakthrough piece of research. It is one of the first large scale projects which combine genomic sequencing and medical resources to provide advanced diagnosis and personalised treatment to save lives and improve quality of life. Already, it has helped to diagnose 535 patients with a rare disease, with the leading scientists predicting that three-fifths of these patients would have had their diagnosis missed by more conventional tests. The real-world impact of the project is phenomenal and continues to help more people every day.

References

https://www.genome.gov/human-genome-project

https://www.genome.gov/human-genome-project/What

https://www.bbc.co.uk/bitesize/guides/zwvpsg8/revision/5

https://en.wikipedia.org/wiki/Human_Genome_Project

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6875757/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6875757/

 

Disclaimer

The information in this blog is for information and entertainment purposes only. I am not a medical professional, so I have never and will never give medical advice in this blog. You should always speak to a healthcare professional about your unique health needs. My opinions are entirely my own and do not reflect the organisations or people I work for. I only discuss published literature in this blog which are referenced with links.

 

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