Story Tools: PRINT | Text Size: S M L XL | REPORT TYPO | SEND YOUR FEEDBACK
DNA

In Depth

Health

Genomes for sale

What falling cost of genome sequencing means for health care

Last Updated Feb. 19, 2008

Just imagine: You're turning 40 this year, and your New Year's resolution was to work on your future health issues. You make an appointment to have your genome sequenced and learn that you have a strong genetic tendency toward cardiovascular disease and colon cancer, as well as some markers for Alzheimer's. Chastened, you head back to the gym, schedule screening tests for the all three diseases and start investigating long-term care options.

This scenario is still in the realm of science fiction, but perhaps not for much longer. The cost of genome sequencing will begin to fall, and its applications to health care will follow.

In 2007, the journal Nature Genetics posed "The Question of the Year, " asking geneticists all over the world what research they would do if the entire human genome could be sequenced for a $1,000 US — rather than the $3 billion US that the first sequence cost. Their responses, posted on the journal's website, illuminate the questions we'll be facing in the years to come.

The first complete genome of an individual person, that of geneticist J. Craig Venter, was published in September 2007 in the Public Library of Science (PLOS) journal Biology. Over four years, an international team sifted through some 20 billion base pairs of DNA to assemble Venter's genetic profile. A team from Toronto's Hospital for Sick Children, lead by Stephen Scherer, a senior scientist there in genetics and genome biology and a professor at the University of Toronto, collaborated on the project.

As a result of this work, and the work of other research teams, the $1000 US genome may not be so far off. In November, deCODE, a company based in Iceland, began offering customers a genetic profile covering one million genetic variants (providing disease risk factors and ancestry information) for $985 US. On Jan. 22, the biotech firm 23andMe announced that it would offer its $999 US genetic profile to customers in Canada as well as in Europe. The company, which made news last spring when Google invested $3.9 million US in it, scans some half-million locations on the genes known to have variations significant for disease and ancestry. The whole genome, however, has some six billion locations or DNA "letters" altogether, and while the partial genetic information available commercially is intriguing, it is difficult to interpret and the medical applications are still limited.

People willing to have their entire genome made public may volunteer with the Personal Genome Project, initiated by George Church, a Harvard professor of genetics. Or, if you'd like to keep your genome private, a company called Knome (also co-founded by Church) will sequence your whole genome for $350,000 US — if you are among the first 20 people to ask — according to a press release dated Nov. 29.

Your personal blueprint

So what good is all this genetic information?

Many geneticists posting on the Nature Genetics site speculate that widely available genome sequencing would illuminate common intractable diseases.

In answer to the journal's question of the year, Francis Collins of the National Human Genome Research Institute in the U.S. said that at $1,000 US per genome, he would sequence the genomes of people affected by diseases that have at least some genetic component — such as cancer, arthritis, Alzheimer's, diabetes, cardiovascular disease and depression. He would also look at the genomes of people who have lived a century or more in order to explore "the genetics of good health and longevity in all humans."

Understanding genetic components of disease would also widen the availability of "personalized medicine," transforming it from "a luxury to a birthright," as George Church puts it on the website.

Personalized medicine — already used in limited ways — relies on genetic testing to predict how people will respond to particular medications, such as antidepressants and chemotherapy drugs. However, Scherer cautions that, "In the short term, personalized medicine will mainly only benefit those people who can access [afford] it and who have the wherewithal to make sense of the data."

Scherer, who plans to enroll in the Personal Genome Project this year, is looking for autism susceptibility genes, but points out that the technology is still too expensive for sequencing to apply directly to the study of disease. Still, he says, his team spends a lot of time "trying to make the links of DNA sequence changes to medical outcomes."

In the meantime, he is making progress using high-resolution arrays, he says. Scherer directs the Autism Genome Project, supported by Genome Canada, which will screen the genomes of more than 6,000 members of 1,600 families to search for clues to causes and treatments.

Some geneticists are particularly interested in genetic variation. One of the surprises from the sequencing of Venter's genome was how much people's genes vary and how even the numbers of copies we have differ. This variation can be the basis both for genetic diversity and for disease.

Other geneticists who posted on the Nature Genetics website would look not at humans, but at mice, dogs, cats, plant organisms, bacteria and the microbes that inhabit the human body. Indeed, one geneticist — Michael D. Rhodes from Applied Biosystems, which sponsored the Question of the Year project — proposed what he called the Gaia Project, in which the genomes of all species on the planet would be sequenced, both to represent the diversity of the world and to record the genomes of species becoming extinct.

The down side of DNA testing

What are the risks of all this sequencing?

In countries that lack universal health coverage, such as the U.S., people could be denied health insurance if negative genetic information were in their records.

Jonathan Pritchard of the University of Chicago wonders in his entry whether he would have his three-year-old son's genome sequenced "to help determine his genetic liabilities and strengths." He concludes that although sequencing raises serious ethical questions for the patient, for the people who share his genes and for society and poses practical challenges when it comes to interpreting the genetic data, "it is hard to believe that the clinical value of such information will not, ultimately, outweigh the risks."

Don Francis, an American epidemiologist formerly with the Centers for Disease Control who has recently founded the non-profit company Global Solutions for Infectious Diseases, is intrigued by the potential of gene-specific medicine. But he's troubled by the disparity in health care between industrialized countries and the rest of the world.

"How can we justify this expense when we are still trying to eliminate polio in distant corners of the world?" he asks.

But even geneticists from developing countries are enthusiastic about the ramifications of the $1,000 US genome. Muntaser E. Ibrahim, head of molecular biology at the University of Khartoum, Sudan, wrote: "Given the current pace of spread and utility of information in developing countries, it is reassuring that these countries will not be isolated from the advantages of affordable sequencing."

Go to the Top

External Links

PLOS article on human genome sequencing

(Note: CBC does not endorse and is not responsible for the content of external sites - links will open in new window)

[an error occurred while processing this directive] [an error occurred while processing this directive]
Story Tools: PRINT | Text Size: S M L XL | REPORT TYPO | SEND YOUR FEEDBACK

World »

CBC Investigates Did the UN ignore warnings of ethnic cleansing of Rohingya in Myanmar?
According to internal documents and sources consulted by CBC News, there are signs several UN figures and other international actors — including a key Canadian official — have been reticent to pressure Myanmar on the rights of Rohingya.
U.S. federal judge blocks Trump's latest travel ban
Just hours before U.S. President Donald Trump's latest travel ban was to take full effect, a federal judge in Hawaii blocked the revised order, saying the policy has the same problems as a previous version.
British spy chief says 'intense U.K. terrorist threat' is evolving rapidly
Britain's domestic intelligence chief warned during a rare public speech Tuesday that the terrorist threat the country faces has accelerated at an alarming pace and is worse now than at any time in his 34-year career.
more »

Canada »

Critics question settlement program for banks that overcharged fees
As investors await refunds from banks and other financial institutions for hundreds of millions of dollars in excess fees, critics are questioning the process used to determine those refunds.
As trade irritants pile up, Trudeau calls Trump to sell Bombardier-Airbus deal video
Shortly after Bombardier announced its deal with Airbus that would give the European aerospace giant a majority stake in the CSeries jet program, Prime Minister Justin Trudeau was on the phone to U.S. President Donald Trump.
'What an out-of-touch tweet to send': Nenshi responds to online barb from Flames staffer
Not everyone was happy about Naheed Nenshi being re-elected to a third term as Calgary's mayor Monday night — including some members of the Calgary Flames organization, which recently broke off talks with the city regarding construction of a new arena for the NHL team.
more »

Politics »

As trade irritants pile up, Trudeau calls Trump to sell Bombardier-Airbus deal video
Shortly after Bombardier announced its deal with Airbus that would give the European aerospace giant a majority stake in the CSeries jet program, Prime Minister Justin Trudeau was on the phone to U.S. President Donald Trump.
Conservatives name former Rebel Media director as 2019 campaign chair
The Conservatives have hired Hamish Marshall to run the party's 2019 election campaign, CBC News has learned. His role as a former director of Rebel News Media will likely provide fodder for opponents.
New Bill Morneau uses stop in Hampton to unveil small business tax changes video
Finance Minister Bill Morneau is set to outline federal help for small businesses at an event in Hampton, N.B., on Wednesday morning.
more »

Health »

Sorry - we can't find that page
 
CBC.ca

Sorry, we can't find the page you requested.

  1. Please check the URL in the address bar, or ...
  2. Use the navigation links at left to explore our site, or ...
  3. Enter a term in the Quick Search box at top, or ...
  4. Visit our site map page

In a few moments, you will be taken to our site map page, which will help you find what you looking for.

more »

Arts & Entertainment»

'A universal story told in an Indigenous way:' Maori anthology tale Waru opens ImagineNative film fest video
Maori stories have been some of New Zealand's biggest box office successes, but it's time for female Maori stories to shine, say two of the filmmakers behind the anthological drama Waru.
CBC BOOKS George Saunders wins Man Booker Prize for Lincoln in the Bardo
George Saunders's Lincoln in the Bardo has won the Man Booker Prize, among the world's most lucrative English-language literary prizes.
Canadian arts community mourns loss of Indigenous playwright
Canada’s performing arts community is mourning the loss of an Indigenous playwright who shared a piece of the nation’s dark history through musical theatre.
more »

Technology & Science »

Why seeing a star crash is a 'watershed moment in astrophysics'
Gravitational waves have led scientists to something they’ve never seen before — the collision of two exotic objects called neutron stars. Here are some amazing things about that discovery.
Google sister company makes 'bold bet' with new tech-focused neighbourhood 'Sidewalk Toronto'
Waterfront Toronto has announced that Sidewalk Labs, Google’s city-building sister company, will be its partner in creating a new tech-focused neighbourhood on the eastern Toronto waterfront.
Secret Microsoft database of unfixed vulnerabilities hacked in 2013
Hackers broke into a secret Microsoft database containing information about critical and unfixed vulnerabilities in Windows and other popular software in 2013, former employees disclose.
more »

Money »

Analysis 800-pound gorilla thwarted by Bombardier's savvy move: Don Pittis
Giving away its prize asset, the CSeries aircraft, is Bombardier's smartest investment in years.
OSFI sets new mortgage rules, including stress test for uninsured borrowers
Canada's top banking regulator has published the final version of its new mortgage rules, which include a requirement to "stress test" borrowers with uninsured loans to ensure they could withstand higher interest rates.
Veteran investor Marc Faber booted from 3rd company after racist comments
Veteran investor Marc Faber has resigned his board seats at three companies based in Canada following comments he made in his investment newsletter that America was better off because it was settled by white people instead of black people.
more »

Consumer Life »

Sorry - we can't find that page
 
CBC.ca

Sorry, we can't find the page you requested.

  1. Please check the URL in the address bar, or ...
  2. Use the navigation links at left to explore our site, or ...
  3. Enter a term in the Quick Search box at top, or ...
  4. Visit our site map page

In a few moments, you will be taken to our site map page, which will help you find what you looking for.

more »

Sports »

[an error occurred while processing this directive]
Recap Frederik Andersen gets the shutout as high-flying Leafs down Capitals video
Connor Brown scored the game-winning goal in the third period and Frederik Andersen stopped all 30 shots he faced for the shutout as the Toronto Maple Leafs continued their tremendous start by beating the Washington Capitals 2-0 on Tuesday night.
Video Hip Check: Sidney Crosby's hockey IQ is off the charts video
Penguins forward makes incredibly smart play to send game to overtime​
Recap Gordon Hayward's gruesome injury overshadows LeBron-Kyrie bro-battle video
Boston's Gordon Hayward broke his left ankle just five minutes into the season, a grisly injury that overshadowed Kyrie Irving's return to Cleveland and the Cavaliers' 102-99 win over the shocked Celtics on Tuesday night.
more »

Diversions »

[an error occurred while processing this directive]
more »