Greater Knowledge


The Human Genome Project (HGP) was an international research effort to determine the DNA sequence of the entire human genome, which is the set of instructions needed to make and repair every cell, tissue and organ in the human body. Its main purpose was to order the three billion base pairs that make up our DNA, to identify every gene and to develop faster techniques for reading DNA to spot abnormalities within genes.

The application of this knowledge has led to some huge breakthroughs. “When the project was completed, scientists knew the specific genes responsible for just 400 of the approximately 8,000 genetic diseases known to exist,” explains Professor Bill Newman, Chair of the British Society of Genetic Medicine. “As a result of the genome project, we now know genes that are responsible for more than 4,500 genetic diseases.”


More Accurate Diagnosis


This vast increase in knowledge has been supported by huge developments in technology. Whilst the initial genome project took more than 20 years and cost more than £2 billion, with current technology, an individual’s genome can now be sequenced in days for approaching £1,000. This transformation has been achieved by a new technology called next generation sequencing which has made it possible to study thousands of genes at the same time, so changes can be spotted in a matter of days, rather than months.

“This is not a small step, it’s a huge jump,” affirms Professor Graeme Black, Director of the Manchester Centre for Genomic Medicine. “The power of decoding an individual’s genetic make up is remarkable.”

Just last year Angelina Jolie made the headlines when she had a double mastectomy after discovering she carried the BRCA1 gene mutation, which increases chances of breast and ovarian cancer. Whilst geneticists have known for more than 20 years that a fault in the BRCA1 gene can increase risks, it was difficult to test large numbers of individuals. “Thanks to recent improvements in DNA sequencing, the way we test the gene has changed dramatically”, continues Professor Newman. “It’s now much quicker, more sensitive and much much cheaper. People used to wait months, even a year, for a result, but we can now turn it around in a matter of days.” 


Personalised Treatment


Treatment is also becoming much more personalised. For example in some people with the skin cancer, melanoma, geneticists can identify a specific gene change so oncologists can select the most effective course of treatment, rather than trusting to chance to see which one works.


What does the future hold?


Whilst a world where every individual has his or her genome sequenced and kept on file is no longer a complete fantasy, it’s also not an imminent reality. What we can be certain is that genomics will play an increasingly important role in the way we diagnose and treat diseases. “In the first instance, this will have the greatest impact in improving the diagnosis of rare, inherited conditions,” concludes Professor Black. “It’s having a real impact on individuals now. The future has arrived.”


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Congenica capitalize on advances in NGS technology and proprietary informatics knowledge and expertise in order to deliver clinical genome data and discovery for diagnostic purposes.

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