Event Review: Genomic Sequencing - Why Is It Important and How Can It Help You?

Genetic Alliance UK is a charity that works to improve the lives of patients and families affected by all types of genetic conditions. Recently it held its annual conference to discuss and reflect on the advances in genomic sequencing and to ask (and answer) why is it important, and how can it help to improve disease treatment?

Perhaps unsurprisingly, given Genetic Alliance's involvement with Rare Disease UK and the rarity of many genetic conditions, a major focus of the conference was the role of genomic sequencing in helping to identify genes involved in rare diseases, and the part this could play in advancing medicine.

Science broadcaster and journalist Vivienne Parry, from the Department of Health, kicked off the day with an entertaining history of the methods used for diagnosing disease, from the time of the Ancient Greeks when the livers of sacrificed sheep were used as a method of disease diagnosis, through to the current day. She framed the evolution of medicine as a transition from observing and treating symptoms, to understanding and treating diseases based on their cause. Genomic medicine follows this evolution, advancing the way in which we can understand the aetiology of disease and in particular of rare genetic disorders.

The cost of searching for a genetic diagnosis for rare diseases is incredibly costly for the NHS, and exceptionally difficult. Only 25 percent of rare diseases exhibit a molecular deficiency, making it hard to even know where to start looking. In many cases one causal factor will have multiple different presentations, and conversely a single presentation may be the result of multiple genes. This poses the question: how should we go about diagnosing rare diseases? Whole genome sequencing 'might be the answer'. Part of this endeavour is the 100,000 Genome Project.

The aim of the project is a grand one: to sequence 100,000 whole genomes of patients with rare/inherited diseases and/or cancer by 2017. This will be combined with the individual clinical records of participants, creating an unparalleled research resource, whilst providing the NHS with a 'sequencing capacity [that is] unrivalled'. The project also hopes to 'build a new career path for clinical genomics' within the NHS, putting the UK at the forefront of genomic research, and creating a platform upon which to build personalised genomic medicine.

Dr Mark Bale, Deputy Director of the Health Science and Bioethics division of the Department of Health, explained that part of the impetus for starting this project now is dramatic improvement in sequencing technology, coupled with a huge drop in the price of sequencing. In fact, the price of sequencing is now so low that for many rare diseases 'it will soon be more cost effective to sequence a patient's entire genome, rather than to carry out specific metabolic tests'.

A major short-term outcome of the project is that it will enable a 'conclusive diagnosis' for many participants. But how quickly could the data from the 100,000 Genome Project be translated into treatments, one delegate asked. Both Dr Bale and Ms Parry agreed that even for those participants in the 100,000 Genome Project, for whom the causal gene is identified, it is likely to be many years before a treatment could be found. Given that, do the audience members with rare diseases themselves have reservations about taking part in the project? Overwhelmingly not, with the common sentiment being: 'If I can help to further research in any way, for anyone, I'll do it'.

Throughout the day, the speakers reiterated an important fact: we really don't understand a great deal about the way in which the human genome works, with 95 percent of DNA having no known function. Sequencing 100,000 genomes will result in a vast amount of data, which researchers can use to gain an insight into the way the human genome works, and the way in which our genome and disease are linked. There's no doubt that deciphering data generated from the project will take a long time and it will be many years until we have sufficient knowledge to make personalised genomic medicine a reality.

However, as one delegate put it, 'information is power'. The 100,000 Genome Project will give us a ton of information, and that has to be a good thing.