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100,000 genomes - the future of diagnosis and treatment

Until recently, almost 95% of the human genome was neglected by medical research.(1) Despite completing the full genome map in 2003, researchers were sure that only the coding genes – that active 5% – played any role in disease. The full gene sequencing that once took 13 years can now be done in a day, however, and it is only with this leap in technology that the enigmatic 95% has come in to focus.

It is only with this leap in technology that the enigmatic 95% has come in to focus. Researchers are now beginning to touch on the wealth of rare diseases with as-of-yet undocumented genomic links, as well as the full potential of medicine to tackle these problems at a molecular level. In short, we have the map, but are only just beginning to see where things are buried.

‘The further identification of genomic targets in human disease has opened up a whole new vista of genomic medicine development in recent years’, says Dr. Chee Gee See, Genomics expert and Director of Personalised Medicine at Proteome Sciences. ‘Truly astonishing was the initial discovery in 2006 of the EML4-ALK oncogene implicated in non-small-cell lung cancer. Its rapid development from a genomic target to the well-known and well-regarded genomic medicine Xalkori took just barely 4 years, and was approved by the US FDA in 2011

Dr. See’s enthusiasm is no fringe fervour – medical advances and decreased cost have sparked worldwide interest in the use of genomic technologies in routine clinical care.(2) ‘For pharmaceutical companies’, See continues, ‘that invest in medicines that make a difference to patients, genomic targets that can translate to genomic medicines are  priceless.’ The coming breakthroughs are not solely pharmaceutical in nature, however. As is exemplified by  the Genomics England group, genomic medicine has the potential for far-reaching social implications.

Established in 2013 by the UK Department of Health, Genomics England are delivering the 100,000 Genomes Project –  a four-year movement to sequence the full genomes of 100,000 volunteers with rare diseases. Any new disease-to-gene links discovered by the project will then be utilised by the NHS in the provision of better health care, essentially offering a taste of a future where gene sequences make up a conventional part of the nation’s health records.

Documenting the genes of a nation is a substantial task, of course, so Genomics England plan to alleviate the study through use of the ‘PanelApp’ – a crowdsourcing tool that enables knowledge of disease genetics to be publicly shared. The gene panels that are documented by the PanelApp can be downloaded and viewed by anyone, but Genomics England are particularly keen to designate ‘expert reviewers’ who will be able to evaluate the available data and propose new disease links. See Introduction to the PanelApp, and Further instructions for expert reviewers for more information.

The 100,000 Genomes Project may be a four-year task, but genomic medicine as a whole is looking to change the face of healthcare as we know it. As it evolves, we at Paramount Recruitment are expecting a high demand for the future generation of pioneers, and are keen to further the breakthroughs of our existing pharmacogenomic contacts by providing the right candidates. If you are looking for a new opportunity in this sector, or are a potential client who is looking to add to their team, please feel free to contact us, here.


(1) McCarthy, McLeod, Ginsburg, Genomic medicine: A decade of successes, challenges, and opportunities. Sci. Transl. Med. 5, 189sr4 (2013).doi:10.1126/scitranslmed.3005785, pmid:23761042

(2) Genomics England, The 100,000 Genome Project. Available Online at Accessed 22/09/15

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22nd February

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