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."

Life and Style
food + drink
Life and Style
love + sex A new study has revealed the average size - but does that leave men outside the 'normal' range being thought of as 'abnormal'?
News
UK Border Control
i100
Sport
boxing
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

    Recruitment Genius: Accounts Senior / Assistant Manager

    Negotiable: Recruitment Genius: Exciting new position available at an independ...

    Recruitment Genius: Bookkeeper / Credit Controller

    £20000 - £24000 per annum: Recruitment Genius: The successful candidate will h...

    Recruitment Genius: Office Junior / Assistant

    £7800 - £13455 per annum: Recruitment Genius: A career opportunity has become ...

    Recruitment Genius: Product Advisor - Automotive

    £17000 - £23000 per annum: Recruitment Genius: Due to the consistent growth of...

    Day In a Page

    Syrian conflict is the world's first 'climate change war', say scientists, but it won't be the last one

    Climate change key in Syrian conflict

    And it will trigger more war in future
    How I outwitted the Gestapo

    How I outwitted the Gestapo

    My life as a Jew in wartime Berlin
    The nation's favourite animal revealed

    The nation's favourite animal revealed

    Women like cuddly creatures whilst men like creepy-crawlies
    Is this the way to get young people to vote?

    Getting young people to vote

    From #VOTESELFISH to Bite the Ballot
    Poldark star Heida Reed: 'I don't think a single bodice gets ripped'

    Poldark star Heida Reed

    'I don't think a single bodice gets ripped'
    The difference between America and Israel? There isn’t one

    The difference between America and Israel? There isn’t one

    Netanyahu knows he can get away with anything in America, says Robert Fisk
    Families clubbing together to build their own affordable accommodation

    Do It Yourself approach to securing a new house

    Community land trusts marking a new trend for taking the initiative away from developers
    Head of WWF UK: We didn’t send Cameron to the Arctic to see green ideas freeze

    David Nussbaum: We didn’t send Cameron to the Arctic to see green ideas freeze

    The head of WWF UK remains sanguine despite the Government’s failure to live up to its pledges on the environment
    Author Kazuo Ishiguro on being inspired by shoot-outs and samurai

    Author Kazuo Ishiguro on being inspired by shoot-outs and samurai

    Set in a mythologised 5th-century Britain, ‘The Buried Giant’ is a strange beast
    With money, corruption and drugs, this monk fears Buddhism in Thailand is a ‘poisoned fruit’

    Money, corruption and drugs

    The monk who fears Buddhism in Thailand is a ‘poisoned fruit’
    America's first slavery museum established at Django Unchained plantation - 150 years after slavery outlawed

    150 years after it was outlawed...

    ... America's first slavery museum is established in Louisiana
    Kelly Clarkson: How I snubbed Simon Cowell and become a Grammy-winning superstar

    Kelly Clarkson: How I snubbed Simon Cowell and become a Grammy-winning superstar

    The first 'American Idol' winner on how she manages to remain her own woman – Jane Austen fascination and all
    Tony Oursler on exploring our uneasy relationship with technology with his new show

    You won't believe your eyes

    Tony Oursler's new show explores our uneasy relationship with technology. He's one of a growing number of artists with that preoccupation
    Ian Herbert: Peter Moores must go. He should never have been brought back to fail again

    Moores must go. He should never have been brought back to fail again

    The England coach leaves players to find solutions - which makes you wonder where he adds value, says Ian Herbert
    War with Isis: Fears that the looming battle for Mosul will unleash 'a million refugees'

    The battle for Mosul will unleash 'a million refugees'

    Aid agencies prepare for vast exodus following planned Iraqi offensive against the Isis-held city, reports Patrick Cockburn