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Inside the Lab Genetics and epigenetics, Bioinformatics, Precision medicine, Omics

The 100,000 Genomes Project

The Human Genome Project (HGP) was declared complete in 2003 to great applause from the scientific community. But then a big question quickly presented itself: how can we use the data? Time to think big.

The 100,000 Genomes Project was launched by Genomics England in 2014 with the aim of sequencing and analyzing 100,000 genomes from patients and their families affected by cancer or rare disease. The first 2,000 of the 100,000 genomes have already been sequenced and in January 2015, 11 Genomic Medical Centres were appointed to continue to gain patient consent and collect samples. We found out more from David Bentley, vice president and chief scientist at Illumina, who is leading a team at Illumina Cambridge to help bring genome sequencing to the bedside in partnership with Genomics England.

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It can’t be as easy as it sounds – can it?

The time is right to do it and the concept is easy to grasp, but we must remember this is the first time in the world that a project of this scale has been attempted. The technology we’re using is Illumina’s HiSeq X Ten sequencer but it’s not just about instrumentation; the project requires a huge infrastructure to track the samples being collected from hospitals and the regional centers, log all the processes and quality control steps, and monitor how we analyze the data afterwards.

How did the project get started?

Genetics play some part in almost every disease, which means that we would ultimately have to develop an almost infinite number of different tests to cover them. Instead, the idea behind this project is to sequence the whole genome of each patient and learn how to extract the clinically useful (or actionable) information for each case.

The starting points for the 100,000 Genomes Project are the collection of patients and their clinical information, the sequencing technology, and the information that came from the human reference sequence created by the HGP. The HGP promised a great deal – many said early on that it had not delivered on this promise, but people need to understand that it can take a long time to develop the necessary understanding and all the tools needed to make proper use of the reference sequence. We have a fantastic human genome sequence – it’s just that we didn’t have the right tools to use it at the beginning.

How has technology advanced since the HGP?

When I was a PhD student, I did manual sequencing using the Fred Sanger method. I sequenced one piece of DNA in a test tube, and if I wanted to sequence four pieces then I used four test tubes. The number of sequences I did at once was determined by the number of tubes I could handle. Fast forward to the HGP, and machines were used that could manipulate a hundred fragments at a time. Now, with our technology we can do five billion fragments at once in a single run on one HiSeq X Ten sequencer machine.

What are your hopes for the project?

I really do believe that it will achieve a very long-held goal: introducing precision medicine. Using information from each genome, each patient, and all the results of the 100,000 Genomes Project in aggregate will massively increase the precision with which we understand and diagnose diseases of all kinds, and it will help doctors every day when they make diagnoses and take clinical decisions.

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About the Author
Stephanie Sutton

"Making great scientific magazines isn’t just about delivering knowledge and high quality content; it’s also about packaging these in the right words to ensure that someone is truly inspired by a topic. My passion is ensuring that our authors’ expertise is presented as a seamless and enjoyable reading experience, whether in print, in digital or on social media. I’ve spent seven years writing and editing features for scientific and manufacturing publications, and in making this content engaging and accessible without sacrificing its scientific integrity. There is nothing better than a magazine with great content that feels great to read."

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