Human Genome Project, 10 years on

10 years ago, on June 26, 2000, the first draft of the human genome was announced to the public with great ceremony and aplomb. And hyperbole.

"Today, we are learning the language in which God created life," gushed President Clinton at the White House press conference to commemorate the moment.

"We are gaining ever more awe for the complexity, the beauty, the wonder of God's most divine and sacred gift. With this profound new knowledge, humankind is on the verge of gaining immense, new power to heal.

"Genome science will have a real impact on all our lives - and even more, on the lives of our children. It will revolutionise the diagnosis, prevention and treatment of most, if not all, human diseases."

Them's some pretty bold claims.

So, 10 years on, how significant really was the Human Genome Project? It really depends on what you were hoping to get from it.

For genetic epidemiologist, Professor Nick Martin, from the Queensland Institute of Medical Research, there's no doubt about its significance. "It was hugely significant. A landmark in human history," he said.

This is because genomics has had a dramatic impact on epidemiology, enabling researchers to dig beneath the surface of diseases to get at the genetic factors that influence them.

However, it's been a limited revolution to date. Prior to the Human Genome Project, it was expected that we'd find as many as a hundred thousand genes, each with a significant role to play.

Understanding disease would be a (relatively) simple matter of linking a particular gene to a particular condition. Sadly, that picture didn't manifest.

Genome-wide association (GWA) studies - which have recently been questioned for their ability to account for so-called 'missing heritability' - have shown that disappointingly few traits are monogenetic and, in fact, it takes many genes working together to account for much phenotypic variation and complex diseases.

Yet these GWA studies have still yielded benefits, says Martin, including documenting around 1000 new genes, and he's hopeful we'll see more insights revealed yet.

However, others are more sceptical about the genomics revolution to date.

"There's a lot of hype out there," says Professor John Hopper, from the Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology at the University of Melbourne.

"Look at what people were saying would happen in the next 10 years since 2000. They should stop talking hype and start talking reality, stop curiosity testing and look at real benefits."

According to Hopper, we're still in the early days of genomics, and while progress has been made in the last decade, we still have relatively few tangible benefits in terms of health that have stemmed from the Human Genome Project.

And, in many ways, says Hopper, the medical industry has yet to appreciate the what genetic testing is - both its capabilities and its limitations.

Still, he's hopeful things will improve over the next decade. Martin is likewise optimistic about the future of genomics, particularly when it comes to personalised medicine.

"I think it will lead to new strides in pharmaceutics," he said.

It's never easy to judge the significance of seemingly landmark announcements, particularly without a detailed appreciation of the impact that discovery will have in the future.

Yet it's clear that the Human Genome Project was tremendously significant, although it may take at least another 10 years before we know whether it will truly "revolutionise the diagnosis, prevention and treatment of most, if not all, human diseases."