The Need-To-Know of Science

What is the 100,000 Genomes Project?

Last week, I attended a Biology seminar. Seminars are one of the many perks of being in science; attending a talk about world class-standard research and finishing with a reception which offers free wine and beer. After a day in labs, a drink is always welcome! I was told by my lab friends that this particular seminar was on the 100,000 Genomes Project. Whilst resisting the urge to correct them, as I believed it should have been the 1,000 Genomes Project, I agreed and tagged along.

Of course, I was wrong. It was indeed about the 100,000 Genomes Project, and I was surprised that I wasn’t aware that this existed beforehand; not only as a scientist that has specialised in genetics, but as a member of the public who keeps up with current affairs. The aim of this blog post is to let you know what the 100,000 Genomes Project is all about.

The Human Genome Project, which began in 1990, was the largest ever international collaboration of thousands of scientists with the aim of sequencing the human genome for the first time. In April 2003, the project was finally complete, with a cost of a cool three billion dollars. Nowadays, it costs approximately $1,000 to do the same job in just a few days.

Knowledge about our genome has many potential applications, particularly when it comes to advancing medicine and healthcare. Sequencing the human genome can lead to the genotyping (investigating the genetics) of specific viruses, which can assist with deciding what the most appropriate treatment is. Additionally, it allows us to compare the mutations seen in tumours to that of the normal genome in order to see which mutations are linked to certain cancers. Another opportunity that sequencing the human genome has is designing medication appropriate for that individual and predicting the effect of the drug. With the ability to sequence the genome at a lower cost, it seemed only appropriate to use this to benefit the healthcare system. This is where the 100,000 Genomes Project comes in.

Launched in 2012, the aim of the project is to create a new genomic medicine service for the NHS. Using 100,000 genomes of 70,000 NHS patients with a rare disease or cancer, this will enable opportunities for diagnosis, the development of more effective treatments and will contribute to medical research. Genomics England have collaborated with Illumnia to invest in state-of-the-art sequencing facilities capable of doing this, and there are now 13 designated NHS Genomic Medicine Centres (GMCs) across the country. It sounds like a big job, and it certainly is; in fact, it is currently the largest sequencing project of its kind in the world.


The main aims of the project are to;

  1. Create an ethical and transparent programme based on consent
  2. Bring benefit to patients and set up a genomic medicine service for the NHS
  3. Enable new scientific discovery
  4. Kick start the development of a UK genomics industry


The 100,000 Genomes Project Process. Image from Genomic England.


As the research has increased over the years, we have learned that genetics isn’t always as simple as having a single gene contributing to the disease and that gene being passed down the generations. It could be a single mutation (an error) in a gene, or it could be multiple. It could be just one gene, it could be a group of genes working on a similar function, or it could be completely contrasting genes. It could be something that can be inherited, or it could be completely new to that generation. With such a large spectrum that can be investigated, the opportunity to sequence the whole of the patient’s genome can be massively beneficial.

In addition, we don’t have that many genes – only 20,000. In fact, we have less genes than a worm! It doesn’t take a PhD, however, to notice that humans are much more complex organisms. There is a lot to be said about the non-coding region of our genome, so sequencing our whole genome allows us to look at those regions which may help us understand how they contribute to the regulation and control of coding genes.

It is a written rule in science that a bigger sample size is always better, so having the NHS able to provide medical records that match the individual’s genome sequences makes this study far more powerful. It may be that a person has shown certain symptoms in the past, and that a mutation in their genome could explain why this has been exhibited. What is important to remember is that all the patients involved in this project have given their consent. Even though the project hasn’t yet been completed, some patients have already benefited from their work.

One in 17 of the UK population are affected by a rare disease; not so rare after all. At least 80% of these diseases are genomic and half of the new cases of rare diseases are found in children. The ability to sequence the genomes of these individuals can assist with medical research as it may identify the cause of those diseases and help with the development of treatment. Blood relatives of these patients, such as their parents, are also sequenced. This offers the opportunity to determine whether the disease is hereditary or not. For example, if a child with the disorder has a de novo (a new) mutation, then the parents can be reassured that their next child will not have the disorder as well.


Georgia, one of the first patients to receive a diagnosis, with her family. Image from Genomic England, courtesy to Great Ormond Street Hospital.


Cancer occurs when healthy, normal cells begin to mutate and form a tumour. If you were to sequence the genome of a tumour, it would be slightly different to that of the patient because of the mutations, and this allows you to compare the precise differences which made the cells cancerous. The genomes of cancers can also inform doctors about the best treatment based on the mutations present. For example, Herceptin is a drug that can be very effective for people who have HER2-positive breast cancer, but not for HER2-negative. Looking at the HER2 gene will help doctors determine whether to offer that treatment or not.

It doesn’t end once those 100,000 genomes have been sequenced. It is also important that more scientists, geneticists and doctors are trained so that they can interpret the data. There is hope in the future that the criteria for a ‘rare disease’ will expand so that more common diseases can benefit from the application of genomics.

On the other hand, there are also challenges to face up to. The raw data of one genome takes up 200GB, which is the equivalent of a laptop hard drive! It is therefore important that a method is developed that can pinpoint the useful information within the genome before sequencing is applied to millions of other NHS patients.


Who knows what the future will hold for this project? If it promises what is says it can, then the UK may have just entered a scientific revolution. Any questions? Feel free to ask me in the comments.


For more information, please visit the Genomic England website, where the information for this blog post was obtained.

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