This scientist’s built a vast DNA bank to crack cancer secrets

By Kitty Knowles 20 September 2017

Unlocking hidden data to save lives.

One in eight women will be diagnosed with breast cancer.

These women may have the same disease, they may share some genetic traits, but ultimately they are different people and they have different secrets hidden in their DNA.

What this means is that different treatments may work better for some patients than others. Yet, without knowing what’s hidden in a patient’s unique genetic makeup, doctors must generally offer the same options to all.

“I saw my mother go through conventional cancer therapy, which has nothing at all to do with precision medicine,” scientist Fiona Nielsen told The Memo at Tech BBQ this month.

“I’d like to see every patient get treatment that is suited for them – we can not continue this ‘shooting sparrows with cannons’.”

It’s with this in mind that Nielsen, a genomics expert, left her job at Illumina in Cambridge, and has built her company Repositive.

It’s a global DNA bank that’s going to help researchers crack cancer.

Spotting the problem

The problem today isn’t that there aren’t enough scientists researching genetic diseases.

It’s that to find cures, researchers must analyse millions of DNA samples from all sorts of people. And they’re falling at the first hurdle, unable to track this data down in the vast quantities they need.

“Imagine you want to book a flight, but there are no Yellow Pages, there is no internet,” says Nielsen. “You’d need to go to each and every individual airline and ask them about flights, and times, and prices.”

“This just about approximates the amount of effort a researcher needs to do today to find one particular type of data.”

A number of initiatives from academia have attempted to list and share data, but these often only live as long as the grant funding continues. What’s more, many of these overlook data available from commercial research or biobanks.

Repositive, however, can be used to find the specific type of DNA data a researcher needs, who has it, what form it is in, and how to access it – a bit like Skyscanner, but for DNA.

“What we’re after is data eureka’s,” says Nielsen.

“With the right data, suddenly you can do your analysis, and validate your results to bring the next breakthrough, the next treatment for cancer, or some other genetic disease.”

Making medicine personal

Nielsen launched Repositive as a public platform last year, and it now houses more than a million data sets from across the world (with any one data set holding hundreds of different DNA genomes).

Having recently raised £2.5m in funding, Nielsen is now focused not only on ensuring all researchers can access her platform for free, but that Repositive’s business side is thriving (the company charges big bio-pharma and drug discovery companies to access its services).

The dream of course, remains to better inform those caring for cancer patients, and people with other genetic diseases.

Nielsen hopes to help bring personalised treatments to hospital bedsides within the next five years.

“We are unlocking the potential for personalised, precision medicine,” says Nielsen.

“Data access is the roadblock preventing those dreams from coming true.”