In December 2010 in Milwaukee, Wisconsin (USA), Nicholas Volker, a 5-year old boy with a gastro-intestinal condition that had not previously been seen, who had undergone over a 100 surgical operations and was almost constantly hospitalised and intermittently septic, was virtually on death’s door. But when his DNA sequence was determined, his doctors found the culprit mutation. That discovery led to the proper treatment, and now Nicholas is healthy and thriving.
Even though this was only the first clearly documented case of the life-saving power of human genomics in medicine, few then, could now deny that the field was going to have a vital role in the future of medicine.
That was 10 years after Bill Clinton announced the first draft of the human genome sequence. The human genome is the complete set of genetic information for humans. This information is encoded as DNA sequences within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. Human genomes include both protein-coding DNA genes and noncoding DNA.
Fourteen years on, Genomics England, which is the world’s biggest DNA sequencing project, is inviting researchers and doctors to access its programme as it seeks to transform the treatment of rare diseases and cancers. The state-owned company announced last Wednesday that it is taking applications from British researchers and NHS clinicians who want to work with the data.
This project was set up in 2012 to sequence the full genetic information of NHS patients with rare diseases and cancers and aims to compile data from about 75,000 people by 2017. It is hoped that scientists, by using the database, will be able to find correlations between genetic patterns and certain diseases. Unlike genetic testing, which looks at mutations in particular genes, genomic testing maps all the genes in a cell to see how their interactions might cause disorders.
It is hoped that, like Nicholas Walker, many people with rare diseases or cancers will, in the near future, be able to find a medical solution for their disorder. We believe that this is one of the most exciting and revolutionary disruptions in medicine which will save lives.
Technology and medical science advances are disrupting healthcare as we know it. Our book called iDisrupted, gives greater insight into the breadth and depth of technology disruption in healthcare and other aspects of our lives. iDisrupted is available on Amazon now.
Julien de Salaberry
Bill Clinton Genomics who you are, what you are Welcome to the future