Scientist who mapped his own genome given drugs to combat future illnesses

An apparently healthy man has become the first person in the world to be prescribed a medicine based on an analysis of his genome, the entire set of genes that he inherited from his parents.

Stephen Quake, 40, a professor of bioengineering at the Stanford School of Medicine in California, has started treatment with a statin, the drug to reduce cholesterol, despite his relative youth, after researchers who assessed his chances of developing 55 conditions warned him he was at increased risk of a heart attack.

The development heralds a brave new world for medicine, in which patients will for the first time be offered personal risk analyses predicting their chances of developing dozens of diseases, and their responses to different drugs, based on a study of their genetic make-up.

But it also raises difficult ethical questions over how much patients will want to know, the harm that may be caused by information they can do nothing about and the cost of providing and explaining such highly complex data.

Last summer, Professor Quake deciphered his entire genome for less than $50,000 (£33,000), a fraction of the cost incurred by earlier pioneers who numbered no more than a dozen.

The apparently healthy Professor Quake then asked a colleague, Euan Ashley, a heart specialist at Stanford, to look at one section of his genome associated with an inherited disease called cardiomyopathy, which causes an enlarged heart and can lead to a sudden heart attack. Professor Quake was worried because one of his distant relatives had died at the age of 19 of a heart attack in his sleep.

The analysis showed rare variants in three genes associated with sudden cardiac death and Professor Ashley recommended his colleague have a full physical examination to check for signs of cardiomyopathy.

The researchers then set about analysing Professor Quake's entire genome to show which diseases he was prone to, and which he was protected from. For each disease, they assessed the contribution of the gene variants he carried to calculate his overall risk and compared it to the average risk for men of his age.

The results showed that in addition to an increased risk of a heart attack and heart disease (thickening of the arteries) he had a higher chance than average of obesity, diabetes and depression but a lower risk of Alzheimer's and macular degeneration (of the eyesight).

The researchers also discovered 10 previously unknown gene variants involved in drug response and came up with a table of drugs that were likely to work well for him, including statins to counter his predisposition to heart disease, and others that he might need lower doses of, such as warfarin, which is used to thin the blood in patients with heart disease. The findings are published in The Lancet.

Hailing the advance, Professor Quake said: "We are at the dawn of a new age in genomics. Information like this will enable doctors to deliver personalised healthcare like never before. Patients at risk for certain diseases will be able to receive closer monitoring and more frequent testing, while those who are at lower risk will be spared unnecessary tests. This will have important economic benefits as well, because it improves the efficiency of medicine."

Asked if submitting himself to the first comprehensive assessment of genetic risk for 55 diseases was alarming because of what it might have revealed, Professor Quake said: "I was curious to see what would show up.

"But it's important to recognise that not everyone will want to know the intimate details of their genome, and it's entirely possible that this group will be the majority.

"There are many ethical, educational and policy questions that need to be addressed."

PROMOTED VIDEO
Life and Style
ebookNow available in paperback
ebooks
ebookPart of The Independent’s new eBook series The Great Composers
Latest stories from i100
Have you tried new the Independent Digital Edition apps?

ES Rentals

    Independent Dating
    and  

    By clicking 'Search' you
    are agreeing to our
    Terms of Use.

    iJobs Job Widget
    iJobs General

    Tradewind Recruitment: Experienced Cover Supervisor

    £12000 - £14400 per annum: Tradewind Recruitment: Experienced Cover Supervisor...

    Recruitment Genius: Trainee Account Manager

    £14000 - £16000 per annum: Recruitment Genius: This company are proud to be on...

    Ashdown Group: Application Support Engineer with SQL skills

    £28000 per annum: Ashdown Group: A highly reputable business is looking to rec...

    Ashdown Group: Trainee / Graduate Helpdesk Analyst

    £20000 per annum: Ashdown Group: A highly reputable business is looking to rec...

    Day In a Page

    Syria crisis: Celebrities call on David Cameron to take more refugees as one young mother tells of torture by Assad regime

    Celebrities call on David Cameron to take more Syrian refugees

    One young mother tells of torture by Assad regime
    The enemy within: People who hear voices in their heads are being encouraged to talk back – with promising results

    The enemy within

    People who hear voices in their heads are being encouraged to talk back
    'In Auschwitz you got used to anything'

    'In Auschwitz you got used to anything'

    Survivors of the Nazi concentration camp remember its horror, 70 years on
    Autumn/winter menswear 2015: The uniforms that make up modern life come to the fore

    Autumn/winter menswear 2015

    The uniforms that make up modern life come to the fore
    'I'm gay, and plan to fight military homophobia'

    'I'm gay, and plan to fight military homophobia'

    Army general planning to come out
    Iraq invasion 2003: The bloody warnings six wise men gave to Tony Blair as he prepared to launch poorly planned campaign

    What the six wise men told Tony Blair

    Months before the invasion of Iraq in 2003, experts sought to warn the PM about his plans. Here, four of them recall that day
    25 years of The Independent on Sunday: The stories, the writers and the changes over the last quarter of a century

    25 years of The Independent on Sunday

    The stories, the writers and the changes over the last quarter of a century
    Homeless Veterans appeal: 'Really caring is a dangerous emotion in this kind of work'

    Homeless Veterans appeal

    As head of The Soldiers' Charity, Martin Rutledge has to temper compassion with realism. He tells Chris Green how his Army career prepared him
    Wu-Tang Clan and The Sexual Objects offer fans a chance to own the only copies of their latest albums

    Smash hit go under the hammer

    It's nice to pick up a new record once in a while, but the purchasers of two latest releases can go a step further - by buying the only copy
    Geeks who rocked the world: Documentary looks back at origins of the computer-games industry

    The geeks who rocked the world

    A new documentary looks back at origins of the computer-games industry
    Belle & Sebastian interview: Stuart Murdoch reveals how the band is taking a new direction

    Belle & Sebastian is taking a new direction

    Twenty years ago, Belle & Sebastian was a fey indie band from Glasgow. It still is – except today, as prime mover Stuart Murdoch admits, it has a global cult following, from Hollywood to South Korea
    America: Land of the free, home of the political dynasty

    America: Land of the free, home of the political dynasty

    These days in the US things are pretty much stuck where they are, both in politics and society at large, says Rupert Cornwell
    A graphic history of US civil rights – in comic book form

    A graphic history of US civil rights – in comic book form

    A veteran of the Fifties campaigns is inspiring a new generation of activists
    Winston Churchill: the enigma of a British hero

    Winston Churchill: the enigma of a British hero

    A C Benson called him 'a horrid little fellow', George Orwell would have shot him, but what a giant he seems now, says DJ Taylor
    Growing mussels: Precious freshwater shellfish are thriving in a unique green project

    Growing mussels

    Precious freshwater shellfish are thriving in a unique green project