Faster, cheaper genome advances propel cancer care

Genome-sequencing is getting cheaper and faster, and can eliminate the guesswork in treating cancer by offering personalized clues on how to best attack tumors, US doctors said on Tuesday.

The human genome was first sequenced in 2003, followed by the first cancer tumor in 2008, intriguing doctors with a new and unparalleled potential for targeting care.

However, controversy lingers over the ethical questions that arise as people begin to learn more about their genetic maps, from concerns over medical privacy to decisions about childbearing and scanning offspring for genetic flaws.

Two studies in the Journal of the American Medical Association detail how one patient's genome led doctors to a different, life-saving leukemia treatment, while a second patient died but left her three children with potentially valuable information about their genetic future.

The study authors said these cases offer hope that as technology gets cheaper and researchers build up more data about cancer and its various mutations, the oncology field will be transformed in the next five to 10 years.

What used to cost tens of millions of dollars and took months, now costs about $40,000 and can offer detailed results in about six weeks, said senior author Richard Wilson, director of Washington University's Genome Institute.

"It has been very eye opening for me in the 10 years that I have been working on cancer genomics," Wilson told AFP.

"We think about leukemia or lung cancer or breast cancer as all sort of being the same disease across all patients, but that's really not the way it is," he said.

"It is a complex genetic disease... for the great majority of the cases you are going to want to know exactly what is going on in the genome to cause the disease in order to effectively treat it."

One study centered on a 39-year-old woman who appeared to have classic case of acute promyelocytic leukemia (APL), but lacked the usual genetic signs associated with it.

By sequencing the genome of the patient and her tumor and comparing them, doctors found she had an unusual genetic insertion of one chromosome into another, which mimicked the sort of cancer best tackled with chemotherapy instead of a risky bone marrow or stem cell transplant.

"Sequencing the genome of the patient's leukemia cells offered the opportunity to resolve this dilemma in 'real time' and allowed us to make the correct call in recommending further therapy," said the patient's oncologist, Peter Westervelt at Washington University.

The patient came in with survival odds of less than 15 percent, received chemotherapy "and remains in remission 15 months after her diagnosis," the study said.

The second case involved a mother of three who was diagnosed with breast cancer at age 37, then developed ovarian cancer by age 39. She died at 42, after extensive chemotherapy and a recurrence of the ovarian tumor.

However, she had little family history of cancer, leading doctors to suspect she may have had some sort of genetic mutation.

She tested negative for the common BRCA1 and BRAC2 mutations that are often at the root of breast or ovarian cancer, but a sequencing of her entire genome showed "a novel and unexpected mutation in TP53, a well-known tumor suppressor gene involved in DNA repair," the study said.

Doctors said she was likely born with the mutation, which leaves a 50 percent chance of being passed on to her children, potentially handing them a 90 percent risk of developing cancer in their lifetimes.

Wilson said he was unaware of what her family decided to do with the information, due to patient confidentiality agreements, but that doctors recommended her children be tested.

"You always have people who say, 'We should pass this information along, or we shouldn't,'" Wilson said, pointing to the central ethical dilemma of such technological advances.

"The bottom line is that a mutation such as this, which is a clear cancer susceptibility marker, is actionable," he said.

"Your physician, if armed with this information, is going to be much more aggressive in checking for breast cancer early, or ovarian cancer early."

Hundreds of patients in the United States and Britain have had their genomes sequenced, and a handful of companies are speeding ahead with the technology, said Boris Pasche of the University of Alabama in Birmingham.

"The competition is quite fierce, which has benefited the consumers and researchers like us," Pasche said.

ksh/rl

 

News
More than 90 years of car history are coming to an end with the abolition of the paper car-tax disc
newsThis and other facts you never knew about the paper circle - completely obsolete today
News
people'I’d rather have Fred and Rose West quote my characters on childcare'
Life and Style
The new Windows 10 Start Menu
tech
Arts and Entertainment
There has been a boom in ticket sales for female comics, according to an industry survey
comedyFirst national survey reveals Britain’s comedic tastes
PROMOTED VIDEO
Life and Style
ebooksA superb mix of recipes serving up the freshest of local produce in a delicious range of styles
Life and Style
ebooksFrom the lifespan of a slug to the distance to the Sun: answers to 500 questions from readers
Travel
Bruce Chatwin's novel 'On the Black Hill' was set at The Vision Farm
travelOne of the finest one-day walks you could hope for - in Britain
Sport
footballManchester City 1 Roma 1: Result leaves Premier League champions in danger of not progressing
Arts and Entertainment
Gay and OK: a scene from 'Pride'
filmsUS film censors have ruled 'Pride' unfit for under-16s, though it contains no sex or violence
News
i100
Life and Style
Magic roundabouts: the gyratory system that has excited enthusiasts in Swindon
motoringJust who are the Roundabout Appreciation Society?
Arts and Entertainment
Hilary North's 'How My Life Has Changed', 2001
booksWell it was good enough for Ancient Egyptians and Picasso...
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

    Commercial Litigation NQ+

    Very Competitive Salary: Austen Lloyd: NORTH HAMPSHIRE NQ to MID LEVEL - An e...

    MANCHESTER - SENIOR COMMERCIAL LITIGATION -

    Highly Attractive Pakage: Austen Lloyd: MANCHESTER - A highly attractive oppor...

    Senior Marketing Manager - Central London - £50,000

    £40000 - £50000 per annum: Ashdown Group: Marketing Manager (Campaigns, Offlin...

    Head of Marketing - Acquisition & Direct Reponse Marketing

    £90000 - £135000 per annum: Ashdown Group: Head of Marketing (B2C, Acquisition...

    Day In a Page

    Ebola outbreak: The children orphaned by the virus – then rejected by surviving relatives over fear of infection

    The children orphaned by Ebola...

    ... then rejected by surviving relatives over fear of infection
    Pride: Are censors pandering to homophobia?

    Are censors pandering to homophobia?

    US film censors have ruled 'Pride' unfit for under-16s, though it contains no sex or violence
    The magic of roundabouts

    Lords of the rings

    Just who are the Roundabout Appreciation Society?
    Why do we like making lists?

    Notes to self: Why do we like making lists?

    Well it was good enough for Ancient Egyptians and Picasso...
    Hong Kong protests: A good time to open a new restaurant?

    A good time to open a new restaurant in Hong Kong?

    As pro-democracy demonstrators hold firm, chef Rowley Leigh, who's in the city to open a new restaurant, says you couldn't hope to meet a nicer bunch
    Paris Fashion Week: Karl Lagerfeld leads a feminist riot on 'Boulevard Chanel'

    Paris Fashion Week

    Lagerfeld leads a feminist riot on 'Boulevard Chanel'
    Bruce Chatwin's Wales: One of the finest one-day walks in Britain

    Simon Calder discovers Bruce Chatwin's Wales

    One of the finest one-day walks you could hope for - in Britain
    10 best children's nightwear

    10 best children's nightwear

    Make sure the kids stay cosy on cooler autumn nights in this selection of pjs, onesies and nighties
    Manchester City vs Roma: Five things we learnt from City’s draw at the Etihad

    Manchester City vs Roma

    Five things we learnt from City’s Champions League draw at the Etihad
    Martin Hardy: Mike Ashley must act now and end the Alan Pardew reign

    Trouble on the Tyne

    Ashley must act now and end Pardew's reign at Newcastle, says Martin Hardy
    Isis is an hour from Baghdad, the Iraq army has little chance against it, and air strikes won't help

    Isis an hour away from Baghdad -

    and with no sign of Iraq army being able to make a successful counter-attack
    Turner Prize 2014 is frustratingly timid

    Turner Prize 2014 is frustratingly timid

    The exhibition nods to rich and potentially brilliant ideas, but steps back
    Last chance to see: Half the world’s animals have disappeared over the last 40 years

    Last chance to see...

    The Earth’s animal wildlife population has halved in 40 years
    So here's why teenagers are always grumpy - and it's not what you think

    Truth behind teens' grumpiness

    Early school hours mess with their biological clocks
    Why can no one stop hackers putting celebrities' private photos online?

    Hacked photos: the third wave

    Why can no one stop hackers putting celebrities' private photos online?