Will Big Data DNA analysis herald new era in medicine?

 
Computer graphic of a DNA autoradiogram and a human head.

Related Stories

Often, you are barely aware of it, but hop on a train, spend some time in the shops, watch a movie or a match or visit your GP, and the chances are you will have contributed to half a dozen collections of mass data.

Government and companies now collect, store and analyse as much information as they can about the way we interact with them.

Their goal is the pursuit of efficiency, and to find ways to save, or make, money. There is even a phrase for it - "big data".

The idea is not just to collect this data, but to analyse it.

Take healthcare. In December 2012, the government announced a big data plan for perhaps our most intimate of data, the DNA read-out of 100,000 people with rare diseases and cancer.

WHAT IS BIG DATA?

  • Big data involves the gathering and analysis of data on a large scale
  • The data can come from our purchase records, digital photos, social media posts, mobile phone GPS signals etc
  • Companies can use it to help predict who is facing a divorce, planning a baby, looking to move house or change jobs
  • Supermarkets use big data to send money-off vouchers and offers for products they know their customers will like
  • In March 2012 the White House set up a $200m Big Data Research and Development Initiative to explore how it could help address problems facing the government
  • US Police departments use big data to predict crime hot spots and deploy officers before it happens

kshire Police's new technology predicts cri

It is a colossal sequencing effort. Not only does each patient have a unique DNA code, but so do their cancer tumours. And some patients will respond to certain drugs better than others, depending on the genetic variants they carry.

The claim is that a mass DNA database could herald a new era in medicine, and make the nation richer too. Aside from highlighting British innovation and attracting investment, the initial focus is to help people who are already sick.

For the rest of us, the argument goes, if enough people are on the database, trends will become clear.

So we could be more confident that our personal DNA read-out can be checked against those trends and might warn us we are more at risk of certain diseases, and do something about it like changing our lifestyle of getting screened.

We might also be able to avoid drugs known to be toxic in people that carry a similar genetic make-up to our own.

Prof Sir John Bell is one of the government-appointed "champions" for the Life Sciences industry, and chair of the government's Human Genomics Strategy Group. He sees genomics in the NHS as a vital tool and said it is quite a "dramatic change in the way that medicine is likely to evolve".

A graphic of DNA The struture of DNA was discovered in 1953

The big data at the heart of this is the DNA double-helix.

It is made of four chemicals - essentially a code with four letters. The string of letters that spells out a human being is huge - it took about eight years and cost billions of dollars, to unravel the first human genome.

But now, the computer technology that made that possible is far more powerful, and cheaper.

These days, it takes a little over a day to unravel the DNA sequence of a single individual. And though it is not yet possible, there is talk of a £60 price tag.

Aside from cheaper, more powerful technology, it is also scale that brings the real power.

If the plan takes off, then the sheer numbers of patients involved will allow researchers, both public and private, to ask all sorts of questions of the dataset.

The NHS already has big data projects in place, notably, a system that enables scientists to carry out research on our clinical information, once anonymised, and smaller scale genetics research databases, such as UK Biobank, but what is new is the idea of bringing all of this together.

Genetic testing A national gene database might aid epidemiology

"The great thing about the UK, and particularly the English NHS, is 50 million people and it's at that scale that you're probably going to have the power to detect all kinds of things that are very powerful in terms of the management of disease, and have quite a profound impact," said Prof Bell.

He said he does not stand to make any money from the project himself, though he told us he sits on the board of Roche and Genentech, pharmaceutical companies which may benefit from genomics being applied more widely in healthcare in the UK.

There is some agreement that having genetic information from somebody who is already sick can help to find the best treatment for them.

What is less clear is how much the entire genetic read-out of a healthy person can tell you about the illnesses they might get in the future.

Just because someone carries a particular change in their genes, in most cases, it is far from definite that they will go on to become ill.

We are into the realm of probability and risk, which are notoriously difficult to assess and convey.

Identification by data

There is also the issue of privacy.

Professor of security engineering at University of Cambridge, Ross Anderson, has been asked by the Nuffield Council on Bioethics to join a team that will examine the pros and cons of big data and genomics in the NHS.

The government says the information in the new database will be anonymised. But if it is linked to medical records, that will bring new risks, according to Prof Anderson.

Start Quote

The 'grand bargain' that the government is offering us is that if we give them our DNA then they are going to revolutionise healthcare”

End Quote Stuart Hogarth Bioethicist, King's College London

He said medical data is especially hard to protect because it is so rich in information and his primary concern is that individuals, and their data, could be identified by a process of triangulation: "If you look at the typical person's medical record they may have some things that are known to their friends and family, such as that you broke your leg on the 17 January 1991, and some things that you don't want all your friends and family to know, such as that you had a treatment for depression.

"The problem is that if you make de-identified medical records available, then everyone from whom the subject wants privacy knows part of the record - namely the leg break, which is enough to identify that record out of many records - and they can therefore get access to the sensitive information, namely the treatment for depression."

Prof Bell said there are already robust methods in place to protect people's privacy in medical research which rely in part on limiting access to the data to trusted research partners.

"You probably can't get around the issue that no data in any setting is absolutely anonymised and secure," he said.

"But I think the constraints in the system that have already been thought about for other types of clinical data are probably pretty secure."

That is not enough for Prof Anderson, who wants the government to make details public.

"What we actually need is for anonymisation mechanisms to be open to the public, so that we can work out for ourselves whether the protection is adequate.

"I want to be able to test them. I want to be able to kick the tyres, and if the government's lying, I want to expose them, and embarrass them for it."

Bioethicist Stuart Hogarth, of King's College London, said he is not sure people are ready: "The 'grand bargain' that the government is offering us is that if we give them our DNA then they are going to revolutionise healthcare.

"Well it's not clear in fact that we need so much genomic data to understand the genetic basis of health and disease.

"It's not clear that the government has the capacity to put in place the large-scale IT project of the sort that would be necessary to do this, and it's not clear that the British public is willing to accept that bargain."

Watch Susan Watts' full Newsnight report on Big Data and the DNA database

 

More on This Story

Related Stories

The BBC is not responsible for the content of external Internet sites

Comments

This entry is now closed for comments

Jump to comments pagination
 
  • rate this
    +4

    Comment number 29.

    Government would find it difficult to resist if insurance companies offered to help fund the scheme if they could have access to the data. The big problem is the reliability of personal data held by state agencies. According to the NHS records I am a heavy smoker. Although I have not touched a cig. for 40yrs and never smoked more than 10 cigs a week it would appear the record is permanent rubbish.

  • rate this
    +9

    Comment number 28.

    @ family guy
    "The easiest way to start is new born babies having their DNA taken and kept on record and we can build a complete a future database.
    It's the only time you can (normally) guarantee lifetime hospital attendance.
    Call it a present from the government?"

    A joke perhaps? Otherwise breathtaking naivety

  • rate this
    -26

    Comment number 27.

    I see some comments about people saying "what happens if insurance companies and the like get hold of the data" Obviously you have never heard of the data protection act where they cannot publise the data without the consent of the person of which the data is on. PLUS the fact that it will be a medical record, it is confidential to the patient. Your all paranoid. DNA mapping will be great

  • rate this
    +3

    Comment number 26.

    A problem that will arise is insurance.

    We already get asked to disclose medical information that might increase (never decrease) our risk.

    With a full DNA profile, some people will be denied insurance or bank loans like mortages.

    Even employers will use it in the selection process.

    Those with slight DNA problems will be disadvantaged
    Resulting in Arianism.

    And we all know who tried that!

  • rate this
    +3

    Comment number 25.

    To comment on the story - I had to sign in. I note that I had the choice to login via Google Plus.

    Why is the BBC, a very special non profit service, promoting Google - a private, for profit, corporation? Who made that decision at the BBC? Do they own shares in Google?

    Why is access to the data collected restricted by commerical iterests?

    Should everyone have the right to acces any data?

  • rate this
    +1

    Comment number 24.

    It's not that hard for anyone to get your DNA anyway so the privacy isn't a problem; we all know that successive governments have enthusiastically pursued options to allow the sale of info kept on "confidential" databases for a quick buck. The issue there is who should get paid for and authorise that sale as this isn't just habits or info but the very thing that makes that person just that.

  • rate this
    +3

    Comment number 23.

    I worked for a company who provided a web based email system for the whole of the NHS to prevent trusts from having to maintain their own. Their (useless) central IT dept didn't even know what to ask for when it was being created. Even after a couple of years there was a list as long as my arm filled with (expensive) changes and constant arguing over responsibility. Don't trust NHS IT.

  • rate this
    -15

    Comment number 22.

    There should be a mandatory DNA database of everyone in the UK. This could be used for medical purposes and save people's lives and it could also be used for criminal tracing as well. There is a very remote chance that it could be used for the wrong reasons. Certainly ALL financial service companies would be prohibited from accessing this database under any circumstances.

  • rate this
    +3

    Comment number 21.

    Have they not seen 'Gattaca'? Gov't and big corporations would love to grade us according to our DNA profile: it's a class system that could never be escaped. Welcome to 'Brave New World'.

  • rate this
    +22

    Comment number 20.

    Unlike your bank cards, address, phone number etc your DNA cannot be changed. As we move closer to biometric scanning as identification the thought of someone unscrupulous getting hold of it becomes more worrying. The government has proven its inability to take information security seriously so I simply do not trust them with something so personal. Do you trust them..?

  • rate this
    +24

    Comment number 19.

    "I want to be able to test them. I want to be able to kick the tyres, and if the government's lying, I want to expose them, and embarrass them for it."

    Government has become so close to Big Business that they can't be trusted to put the public interest first. The subordination of life to profit is the real sickness in our society, we slide ever closer towards corporate fascism already.

  • rate this
    +18

    Comment number 18.

    Given our government's record on the abuse of data, and I include all the past administrations, I, like Professor Anderson would want the privacy safeguards to be open and testable.
    Councils using anti-terrorist laws to penalise people for putting bins out early, shows how our public sector cannot be trusted to take a respectful approach to privacy & confidentiality.

  • rate this
    -5

    Comment number 17.

    The easiest way to start is new born babies having their DNA taken and kept on record and we can build a complete a future database.

    It's the only time you can (normally) guarantee lifetime hospital attendance.

    Call it a present from the government?

  • rate this
    -12

    Comment number 16.

    It wouldn't do any harm.

  • rate this
    0

    Comment number 15.

    This is money burning exercise. I am the first scientist identify the interaction of an environmental factor and a genetic factor causing a disease. However, the science community simply ignored me and my research.

  • rate this
    +12

    Comment number 14.

    "if the government's lying, I want to expose them, and embarrass them for it."

    I would suggest that the prof adopt a position of assuming the govt. is lying. Whilst extolling the virtues of DNA data storage for health care purposes I think most people would view this as an ideal opportunity for them & big business to make a shed load of money.This is the ulterior motive make no mistake about it.

  • rate this
    +5

    Comment number 13.

    If it were to be properly implemented and enough resources applied this has the potental to revolutionise research and take medicine in new directions, by checking for commonalities it could start to reveal links we hadn't suspected before

    As always with personal data the main problem is how to prevent abuse of it without curtailing legitimate use

  • rate this
    +11

    Comment number 12.

    Prof Anderson: "I want to be able to test them. I want to be able to kick the tyres, and if the government's lying, I want to expose them, and embarrass them for it."
    ---
    This guy should also turn his attention to everything else the Govt does or says.

  • rate this
    +3

    Comment number 11.

    If we are giving up something thats personal, for possibly the geater good, we should get a say in what the collaborated data should and shouldn't be used for. The same should go for taxes and national insurance.

  • rate this
    +3

    Comment number 10.

    All this info can and no doubt will be used against you once your enemies gain power.

 

Page 12 of 13

 

More Health stories

RSS

Features

BBC © 2014 The BBC is not responsible for the content of external sites. Read more.

This page is best viewed in an up-to-date web browser with style sheets (CSS) enabled. While you will be able to view the content of this page in your current browser, you will not be able to get the full visual experience. Please consider upgrading your browser software or enabling style sheets (CSS) if you are able to do so.