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Decoded: The genome revolution and you

When the human genome was first sequenced in 2000, scientists believed they were unraveling the so-called code of life. But reading and understanding the six billion chemical units wound into each individual's DNA has turned out to be more complicated than anyone imagined. One of the few things geneticists know for sure is that they really don't know much. To kick-start the next phase of the genome revolution, and usher in an era of personalized medicine that will cater to an individual's unique DNA structure, researchers will need a database of millions of genomes. The potential for scientific breakthroughs is huge, but so, some say, are the risks.

The Personal Genome Project: A brave new world for science and privacy


Canadian researchers are about to launch a massive research initiative, the Personal Genome Project. It aims to gather and sequence the DNA of as many Canadians as possible. In the short term, the benefit to any one person could be negligible – it may even create a generation of "the worried well," who will live in fear of genetic risks they can do nothing about. It will certainly challenge our notions of privacy: The researchers want to publish the participants' genetic profiles online and make them freely available to anyone in the world, along with some details of their physical attributes and medical and family histories.

The toughest ethics board in the country has given the project the go-ahead. Yet Ontario's Privacy Commissioner, Ann Cavoukian, says the project scares her.

The science of the genome

The human genome contains all of the genetic information to build and operate a human being, from the way you look to how you think. A genome is a person's complete hereditary set of genetic information. The biological information contained in a genome is stored as DNA sequences within 23 chromosome pairs.


Genome building blocks:

Risks and rewards

For all the promise a genome database might one day offer science and medicine, our future is replete with ethical quandaries and Hollywood-style what-ifs. Using sequenced genomes as a diagnostic tool has already helped numerous patients with long-unsolved medical issues. Science is desperate for more genomes to study, believing that one day personalized medicine will not only extend our lives but make them more comfortable and happier. However, no one knows how or if a person's DNA might be used by any insurance company, pharmaceutical firm or police force. How will society react?

Debating the ethics of genomic sequencing


A question of ethics: What's your view?

How will knowing more about ourselves, our offspring and our possible futures affect the decisions we make?


    Your Say: Would you bare your genetic soul?

    Considering the pace at which the cost of sequencing a whole genome is falling, it's conceivable that one day in the near future, having your genome sequenced will be a mainstream medical test. Do you want to know what information your genome holds? And would you share it with others for the benefit of science?

    Vote: Would you participate in the Personal Genome Project?


    Join the conversation

    Who wants your DNA and why

    Government agencies, businesses, parents and even nations see tremendous value in a DNA databank, but their motivations vary, from catching bad guys and marketing more effectively to developing the perfect swimmer.



    By gaining access to massive numbers of sequenced genomes, scientific researchers hope to be able to tease apart the influence of genes and the environment. Decoded gene sequences don't provide a complete picture: To completely understand how genes correlate to health, scientists need to study genetic profiles along with personal details of the individuals to whom the DNA script belongs. Only then can they figure out how a certain ailment might be dodged, or which drugs are best suited for which people.



    For the health care system, the holy grail of genomic research is personalized medicine – treatments designed for an individual's unique genetic profile. The biggest gains in this field so far involve diagnosis: Identifying a condition through genetic testing allows for timely treatments. Genetic testing can also reveal gene variants that increase risks for diseases, and help doctors decide which drugs a patient should take, and at what dose, avoiding ineffective or dangerous medications.

    The advances benefit patients, and could also mean cost savings for the health care system. For instance, someone with a family history of breast cancer can now take a genetic test to determine if they have the BRCA-1 or BRCA-2 mutations linked to breast cancer; before such testing, some people simply opted for a prophylactic mastectomy, at a cost of about $20,000 to the health care system.



    For drug companies, today's genetic discoveries are paving the way for the treatments of tomorrow. But the era of personalized drugs custom-made to treat your cancer (or your baldness) hasn't arrived yet. Common conditions such as heart disease, diabetes, asthma and depression involve a complex web of many genes and environmental influences; these genes and the roles they play are still being identified. It may be that drugs of the future will be designed to target a number of different mutations involved in the same disease – which drug you're prescribed will depend on your DNA.

    That's why pharma giants are seeking partnerships with DNA testing companies, such as the California-based 23andMe, which recently forged a partnership with Genentech to leverage its database of genetic profiles.



    China has emerged as the genome-decoding capital of the world. Researchers there are aiming to sequence the DNA of most living things on the planet. So far, they've sequenced the genomes of rice, the cucumber, the silkworm, the giant panda and the first full sequence of an ancient human, to name just a few examples. Now they hope to sequence a million humans, and many countries, including Scotland, Saudi Arabia and Canada are shipping them samples.

    What will China do with the data? Should Canadians be concerned about being left in the dust? China's efforts to lead the world in sequencing could have social, political and economic implications: Forbes magazine has estimated that the genomics market will reach $100 billion over the next decade. China clearly aims to play a significant role in it.



    If genetic research can produce disease-resistant corn and hypoallergenic dogs, can it also help us create perfect children? The question may sound like something out of a science fiction novel, but "designer kids" are one possible consequence of being able to identify the genes that predispose children to blue eyes or an above-average IQ.

    The first wave of this bold new era is pre-implantation genetic diagnosis – designed to pre-screen human embryos for genetic mutations behind devastating and serious conditions. But the next wave could involve attempts to screen embryos for traits linked to intelligence or athletic ability (researchers reported this year they were able to sequence the entire genome of a fetus using fetal cells taken from the mother's blood).

    Parents can already sequence their children's genomes at birth, gaining access to information about mental and physical attributes that could influence how the world perceives them, and how they perceive themselves.



    You already know that marketers want your name, phone number, email address, postal code and anything else they can get their hands on. But your DNA? Yes, that too. Personal data-mining is big business, and genetic profiles could offer insights into individuals' consumer preferences.

    Already data brokers scrape the Internet for personal information such as the websites people visit, what they buy online and when they buy it, and marketers use the information to develop targeted ads.

    So what would happen if DNA was added to the mix? Visa wondered the same thing, and filed a patent application for a search engine designed to collect genetic information from online databases. It withdrew the application after privacy advocates raised concerns. But here's what the marketing department likely envisioned: ad campaigns designed to match a person's proclivity to certain conditions, such as obesity or an elevated risk of Alzheimer's (Interested in a word-scramble game to keep your mind sharp?) or even tour packages for people of certain ethnic backgrounds (On sale now: Discount cruises to your home country).



    Insurance works on the principle of sharing risk. But what happens when a policy holder knows that their risk of incurring a debilitating or even life-threatening disease is significantly higher than average? Should insurance companies be able to access that information?

    Most would like to. Although the insurance industry in Canada has declared a moratorium on requesting a genetic test to qualify for life insurance, if someone has had genetic testing done, their insurer can still request the results. Human rights advocates say this amounts to genetic discrimination, and ask whether anyone will be insurable in the future, given that science has identified 7,000 diseases with genetic components.


    Law Enforcement

    Crime investigators can already determine certain physical attributes by examining DNA evidence from a crime scene – their killer might have blond hair, for instance, and freckles. But what if they could access a database that enabled them to find their criminal in the time it takes to send an email? It's a tantalizing vision for law enforcers – one that prompted Britain to create the world's largest national DNA database, which now includes more than five million personal profiles of individuals facing charges. Canada has the National DNA Databank, run by the RCMP, which includes about 160,000 DNA samples from convicted offenders, as well as an archive of 50,000 DNA samples collected from crime scenes.

    While Canada has strict privacy laws governing how these databases are used, and by whom, there are no laws to prevent investigators anywhere from searching for matches in public DNA databases – sites that allow people to upload DNA results in a bid to find relatives, for example, or open-source research initiatives like the Personal Genome Project.



    Wouldn't every employer love to know if their employees' vision was going to deteriorate? Or if they're predisposed to alcoholism or drug abuse? If that sounds far-fetched consider this: Employers in the United States have already been caught out using DNA tests on employees: In one high-profile incident, the railway company Burlington Northern Santa Fe Corp. was found to be illegally testing workers for genetic defects. Other employers make genetic tests a prerequisite for some jobs. While the U.S. has the Genetic Information Nondiscrimination Act, which states that your genetic information can't influence your health insurance or your employment, Canada has nothing of the sort. In fact, Canada is the only G8 country with no genetic discrimination laws whatsoever.

    MY DNA: The burden and the power of knowing

    More and more Canadians are turning to genetic testing to try to identify mystery ailments – or their prospects of getting them. Sometimes what they learn offers hope, and sometimes they wish they'd never found out. As one of our interview subjects notes, "If you get that test result, you can never give it back, or not know that again."



    Win, Lose or Genome

    What can your genome tell you? And would you want to hear it? Try our interactive game to get a snapshot of what science has learned so far by studying the human genome. We'll even give you a chance to control some of your hypothetical genetic makeup. But not all of it – like your own DNA, this game is designed to deal a few surprises.

    The advisory panel

    As journalist Carolyn Abraham researched this series, The Globe and Mail invited twelve of Canada's leading scientific and ethical thinkers – from genetic researchers to legal experts – to be part of our advisory panel. They shared their ideas, innovations and concerns about this rapidly changing field of science. They are the minds who helped shape The Globe and Mail's coverage, and we asked each of them to share their thoughts on the most important issue Canadians need to address as they face this brave new world of genetic information.

    The Advisors

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    What is the most important issue Canadians need to address as they face this brave new world of genetic information?