Charlotte Warren-Gash is a British Science Association Media Fellow, funded by Society for Applied Microbiology


Professor Colin Smith had his whole genome sequenced in 2013. He became the UK’s first person to make their genome sequence publicly available for research through the Personal Genome Project. His genome sequence, and the report that goes with it, is available online, linked to information about Professor Smith’s health.

‘I am genetically naked,’ he said, at this year’s British Science Festival, ‘It is all out there’.

Professor Smith believes that publishing genomic data openly will have a major impact on scientific research and, ultimately, health. The idea of personalising medical treatments based on a person’s genome is far from a reality for most patients. In the future though, genomics could have many applications, ranging from tailoring drug treatments to a person’s likely response, to predicting accurately their risk of future medical conditions.

One barrier to these breakthroughs is the lack of genomes available for research. ‘Once thousands, hundreds of thousands , or even millions of individual human genome sequences are in the public domain – and are linked to environment, personal traits and health information, it’s going to be a different story’, Professor Smith commented. ‘It is a fantastic resource for citizen science’, he added.

Sequencing the 6.4 billion base pairs of his genome has also led to some personal benefits. ‘I have multiple mutations in a very important transporter protein so I can’t take (certain) drugs into my cells’, he explained. These mutations leave him seven times more resistant to drugs such as antidepressants. Professor Smith’s genome report also flagged a predisposition to oesophageal cancer, which induced him to be screened for the condition.

Finding long lost family members through their gene sequence is another potential use of publicly available genome data, although Professor Smith admits that this might lead to some unexpected discoveries. These include non-paternity – the situation in which a child finds that his or her father is actually not related.

Professor Smith recognises that whole genome sequencing may have other downsides. Some people may not want to know about their risk of diseases. For others, discovering a genetic predisposition to an illness may lead to anxiety and even induce psychosomatic symptoms of the disease.Other potential risks of sharing your genetic sequence online are more outlandish: ‘People could use your data and plant it at a crime scene’, he said.

Nevertheless, on balance, Professor Smith is pleased with his decision to share his genome sequence publicly. ‘I took a judgement that the benefits will outweigh the risks eventually...being forewarned is forearmed. For me, screening is the most positive thing’.