Dashed hope or deferred dream?

Examining the effect of the Human Genome Project ten years after its completion

  • by

What happens to a dream deferred?

Does it dry up

like a raisin in the sun?

Or fester like a sore—

And then run?

——Langston Hughes

We entered the third millennium with so much expectation. We beat the apocalyptic Y2K bug that was prophesied to crash computers worldwide and send nuclear missiles firing. The world witnessed the digital revolution, with the United States breaking the fifty per cent population mark of personal computer ownership, while at the same time the dot-com bubble peaked – though it would later come crashing down. The first cloned pig – Millie, Christa, Alexis, Carrel, and Dotcom – were born, ushering in hope for millions of patients in need of organ transplants.

But if there is one moment that was singled out as momentous for science and humanity at the turn of the third millennium, it was the completion of the first working draft of the human genome, announced on June 26, 2000. “Without doubt, this is the most important, most wondrous map ever produced by human kind,” commented President Bill Clinton in a White House press conference – in the same room where Lewis and Clark once unfurled the map of the Pacific Northwest for Thomas Jefferson 200 years ago. Clinton added that the genome map had the potential to “revolutionize the diagnosis, prevention, and treatment of most, if not all, human diseases.” With the deciphered sequence, it was expected that the era of personalized medicine, custom genetic therapy tailored for each individual’s disease, would become a reality.

Three billion base pairs, a $3-billion budget, 13 years of research. The quest to decipher the sequence of our genetic material was one of the most ambitious international projects, involving twenty research centers from around the world.

Has the sequencing of the human genome fulfilled its promise? Ten years later, both leaders of the public and private efforts, Francis Collins of the Human Genome Project and Craig Venter of the Celera Genomic, say not really. A 2010 poll of more than 1,000 scientists conducted by the journal Nature showed that almost half of the respondents said that the benefits of the human genome were over-hyped.

The complexity of the human genome dashed the early hope of personalized medicine becoming a common feature in treating patients. Most of the poll respondents don’t anticipate this to materialize for decades to come. Tomi Pastinen, Canada Research Chair in Human Genomics from McGill, agrees: “I think there was a lot of hype. The expectation of personalized medicine may have not been fully met.”

The idea behind personalized medicine seemed simple at that time: If you know the genomic sequence of a healthy individual and compare it with that of the diseased one, you could then trace the differences in the sequence that cause the problem. This would allow doctors to anticipate diseases – especially cancer – before they manifest. The onset of the disease could be prevented or treated early. It turns out that it is not that simple. Our genome is far more dynamic than ever imagined, and the link between disease and genome is not as direct and linear as we once thought it was.

If there is one agreement on what has been achieved by the human genome, it is that it has helped reshape the way biologists see their field: a complex non-linear system that cannot be understood solely by studying it in parts and later attempting to assemble those parts into a whole. Biology has to be studied – as a dynamic system, as an infinitely complex system.

In the past, the study of biology as disconnected parts – as a simple cataloguing of observations of different components of an organism – has undoubtedly increased our knowledge. Each biologist concerns themselves only with one part, one gene, one organ, and churns out a wealth of detailed observations. However, the task now is to take all those disconnected parts and establish their connectivity, their interdependence, and the emerging physical characteristics that come out of their connections to each other.

Roy Amara, engineer and former president of the Silicon Valley’s Institute for the Future, is well known for having once said, “We tend to overestimate the effect of a technology in the short run and underestimate the effect in the long run.” Fifteen years ago, the dot-com era was overblown and came crashing down in 2001. Now, every facet of life relies on the web. Likewise, the human genome project, despite some disappointment over its unfulfilled short term goals, has laid down the basis for the next breakthrough in human biology and medicine. Today, you cannot be a biologist without in one way or another employing genomic science.

As the first decade comes to a close, we ask ourselves again: what does this second decade hold for us? Pastinen is optimistic. He projects that with the human genome and the development of technology in the next five years we will have almost a full catalogue of all rare mutations that cause severe diseases. By the end of the second decade, he is confident that we’ll start to have a systematic understanding of the relationship between genetic variation and environment, and how individual genetic makeup leads into disease.

In the realm of physics, the hunt for the elusive dark matter is expected to yield result this year. Fusion power – the source of the sun’s energy – is also inching toward becoming a real possibility as scientists in California’s National Ignition Facility seek to use the world’s most powerful laser to ignite the fusion reactor. The possibilities are endless.

We like to charge into the unknown and make bold predictions. We dream. We hope. And that’s what makes us human. That’s what propels us to the future. After all, dashed hope is just a deferred dream. It will only “fester like a sore and then run” if we give up on it.

Hariyanto Darmawan holds a MSc in Chemistry and he is a MEng II student in Chemical Engineering. He can be reached at hariyanto.darmawan@yahoo.com