Nazneen Rahman on why she wants to make genome evangelists of us all

Harnessing the power of genome sequencing could have a "really tremendous impact" on cancer testing and treatment, says Nazneen Rahman of the Institute of Cancer Research and the Royal Marsden Hospital.

Speaking at Wired 2013 in London, Rahman who is a geneticist and doctor specialising in disease gene discovery, cancer predisposition and clinical genomics explains that she wants to make genome evangelists of us all. We should sit up and take notice, because she says we all have the ability to develop cancer -- "cancer has no respect for age or gender, race or ethnicity, wealth or class".

"Our genomes are both beautifully simple and unfeasibly complex," she says. They consist of the three billion letters of code, inside which are stored the instructions for how our cells divide. Looking for a mutation in the code has up until now involved combing laboriously through it.

A new process though, means you can break up the code into millions of fragments and read them all at once. Rahman describes this as "an all-bets-are-off, anything-is-possible kind of change" that has vastly changed the potential of what scientists are able to do in all areas of medicine.

To discover the mutations that have caused cancer in people, doctors used to have to look down the microscope, but now they can just look at the genome and trace the path of the mutating code. Similarly, chemotherapy used to tackle all fast-dividing cells, but we can now make a specific targeted drug that only tackle the mutating cells.

The same tactic can be used to identify mutations that are passed down through generations which means lots of people in the same family are affected by the same cancer. Using the old process for combing through genetic code for hereditary mutations was so time-consuming and difficult that it's very expensive, and therefore only available to the super rich. If we adapt the new changed in genome technologies though, says Rahman, we can make genome testing an affordable possibility for everyone.

In looking for mutations, one of the challenges is that our genomes are littered with mutations -- some of which are dangerous, some of which aren't -- but misinterpretations rather than helping people, can end up doing harm. To avoid this, more people will need to be sequenced, because the more data you put into a system, the better interpretations you get out of it. "This is an area where big data is going to be a big help," she says.

In order to have a way that doctors can routinely use these tests, we need to make sure tests are accurate, but also that people are educated about sequencing and have confidence in the process. This is why we all need to be genome evangelists, but, she adds "we do have to be cautious evangelists -- if that's not a contradiction in terms."

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Nazneen Rahman on why she wants to make genome evangelists of us all