Ten years ago this month, amid much fanfare, scientists from the Human Genome Project (HGP) published the first draft of the entire human genome sequence. This meant that all of the genes in human DNA had been roughly identified and sequenced — and it opened the floodgates to new research on genetically personalized medical treatment that could isolate the causes of diseases such as Alzheimer’s disease and cancer, and cure them.
Fast-forward to 2010. The promised medical advances have fallen short of miraculous, and the project — the largest international collaboration in biology — is under fire. However, despite the criticism, the HGP has not only successfully accomplished what it set out to do, but has made several scientific and biological breakthroughs. Scientists mapped the human genome ahead of schedule and under their $3 billion budget. Competition between private researchers and the National Institutes of Health -funded HGP brought down the cost of a full genome mapping, initially $500 million for one person, to approximately $5,000; a $1,000 personal genome should be available in the near future. This will allow affordable gene mapping for individuals who want to determine their genetic risks.
In addition, a full analysis of the human genome showed that the average number of genes in a human body (approximately 21,000) is remarkably similar to the number in a simple organism such as a worm. Thus, the HGP brought new understanding to human biology: The complexity of the human genome is believed to be a result of RNA regulation of the genes rather than the number of the genes, as previously thought.
The genomic mapping of humans can even be used to track the migration of humans from Africa over 50,000 years ago, as well as unlock the evolutionary timeline of the origin of man.
In a very real sense, overblown expectations are the real reason for disappointment in the HGP. The U.S. government originally claimed researchers would have a genetic explanation for common diseases within 10 years. This unsubstantiated promise, along with the hype surrounding the launch of the HGP, put it on a pedestal that was just a bit too high.
The problem was highlighted when researchers began the daunting task of determining genetic variations that lead to disease. They soon realized the magnitude and complexity of the task. While some gene variations have been directly linked to diseases, they are small pieces in an overall mechanism that governs diseases with intricacies that include multi-gene factors and environmental influences.
At this pivotal point in genomic research, scientists now aim to utilize genetic information to predict disease and determine how people will tolerate drug therapies. “It’s hard to overstate the importance of reading our own instruction book, and that’s what the human genome project is all about,” stated Francis Collins, director of the Human Genome Project and current NIH director.
The Human Genome Project is just the beginning in our search to understand the risks and causes of disease. With apologies to the Beatles, all we need is time. Time is all we need.
Nathan Lo is an undergraduate intern for the Baker Institute Science and Technology Policy Program. He is a sophomore majoring in bioengineering who plans to attend medical school after receiving his degree.
Kirstin Matthews is a fellow in science and technology policy at the Baker Institute. Her research focuses on the intersection between traditional biomedical research and public policy. Matthews’ current projects include the Baker Institute International Stem Cell Policy Program, the Civic Scientist Lecture Series and policy studies in research and development funding, genomics and climate change.