Treating cancer is the biggest challenge faced by modern medicine—one in three people will acquire some form of cancer in their lifetime—and many recent developments offer hope for an eventual cancer-free world. Francis S. Collins is leading this quiet revolution by looking at the instruction manual found in every single one of the human body’s 100 trillion cells: the human genome.

Hosted by the Ontario Institute of Cancer Research, Collins spoke this past Tuesday in the main auditorium of the shiny, sleek MaRS centre in Toronto. He delivered an hour-long talk regarding recent advances in genomics relating to cancer research ranging from finding mutations to genetic screening for at-risk individuals. His message was direct and hopeful: current research on the human genome is offering vital clues to the origins of many forms of cancer.

Collins came from simple beginnings on a small farm in Virginia and ended up heading one of the most important scientific collaborations in history. He led the Human Genome Project starting in 1993, charged with the huge task of sequencing the human genome.

“Frankly not very popular as an idea when it first came along—a lot of people thought it wouldn’t be possible,” said Collins.

Incredibly, the project was completed in 2003, two years ahead of time and under budget. Looking at the U.S. $3 billion price tag, it is all too easy to wonder if the endeavour was worth the cost. However, the information provided is proving to be an invaluable resource for researchers around the world.

DNA is an elegant and simple system of data storage used by every living organism on Earth. It consists of four base molecules named T, C, G and A that match up with each other and form long strands. The order of these letters dictates the production of specific proteins when the cell’s machinery reads the base pairs and assembles the corresponding chain of amino acids. What is truly incredible is the compactness of this data storage system.

“Our genomes are made up of about 3.15 billion of these letters. If we were to read them out seven days a week, 24 hours a day, we’d be here for 31 yearsand you have that information in every cell in your body,” said Collins.

Cancer has a lot to do with DNA. In order for a cell to divide, its DNA must be copied accurately. Mechanisms exist to avoid errors—“like the spellchecker in your DNA copy system”—since mistakes in the replication process can be disastrous if they are not fixed. Even changing just one letter in a sequence can have serious consequences, as the protein described by the new instructions may not be functional.

“Cancer happens when it [DNA replication] doesn’t go well and you make a mistake copying or repairing DNA in a vulnerable part of the genome,” said Collins. “Fundamentally, cancer is a disease of the genome.”

Family history affects the types of cancers an individual is most at risk of acquiring. Mutations in the genome, passed down through generations, may increase one’s risk of cancer if they occur in certain areas of the genome. Researchers identified highly hereditary forms of cancer, such as retinoblastoma and certain forms of colon cancer and breast cancer, by looking at certain parts of the genome where they suspected inherited mutations would lie. The problem with the approach, Collins explained, is that it is like searching under a lamppost on a dark street for a dropped set of keys. If the keys happen to be near the lamppost, they can be found—but what if they are somewhere else on the street?

Here again is where a collaborative scientific approach comes into play. Researchers already suspected that changes in one base pair (known as single nucleotide polymorphisms) could be a source of runaway cancerous growths. Many scientists from around the world are currently working on a project, known as The International HapMap project, to identify all these single base pair differences of which there are an estimated ten million.

“SNPs are all the rage in the genetics community right now—we have a growing interest in tracking down the ones involved in disease risk,” said Collins.

The results from this work have been surprising. Rather than appearing randomly throughout the genome, these SNPs seem to occur in groups on certain parts of the genome. Even more curious is that certain SNPs close together have been found guilty of causing different types of cancer.

“It’s like winning the lottery twice by playing the same number. Somehow, everything is landing on top of everything else,” said Collins.

Recent advances in DNA sequencing technology have helped genomic research greatly. The price of sequencing a piece of DNA has dropped drastically in the past 10 years, costing only an eighth of a penny per base pair. Having an affordable way to look at certain stretches of DNA allows for researchers to have a wider search beam: knowing which SNPs may pose a cancer risk allows for effective screening of individuals before it is too late.

“Cancer is a circumstance where within the DNA you have time bombs that could go off. All of us probably have dozens of these that put us at risk of one thing or another,” said Collins.

Unlocking the secrets held within the tightly coiled DNA strands of the human genome has already led to amazing innovations, such as Gleevec. A super-effective cancer fighting drug, it was administered to 32 patients with advanced chronic myeloid leukemia. Incredibly, 31 of the 32 patients made a full recovery and have been in remission for at least seven years.

From Nixon famously declaring war on cancer in 1971 to Terry Fox’s heroic battle against it, cancer is a topic that carries serious weight in the minds and hearts of many. There is reason for hope, however, and this theme was present throughout the entire lecture. Collins ended his talk with a quote by James Russell Lowell, one that describes neatly where the future of cancer research is headed:

“Not failure, but low aim, is a crime.”

He added, “We’ve finally figured out how to light up the street.”