Marking a milestone in medical research, private and public scientists announced Monday they had effectively deciphered the genome: the blueprint of human life.
Research team leaders from the rival camps working on the project — the private research group Celera and the publicly funded Human Genome Project — jointly announced at a Washington, D.C. press conference they have completed a rough draft of the genome that will eventually revolutionize medicine.
“It’s definitely a major step,” said Dr. Jeffrey Kahn, director of the University’s Center for Bioethics. “But this certainly isn’t the end of the story; it’s just the beginning.”
Researchers will now begin the crucial phase of interpreting the raw data. Once the genome is better understood, scientists will be able to develop genetic treatments for diseases like cancer and Alzheimer’s.
“That’s the more important breakthrough that’s yet to come,” Kahn said.
The gene-map announced by the researchers is a “working draft,” about 90 percent complete. A final, error-free map is still not expected for several years.
Although the ultimate unraveling of the human genome has been billed as one of science’s greatest achievements, Monday’s announcement merely marked another step in that direction.
“It’s more of an evolving process,” said Perry Hackett, professor of genetics and cell biology. “It’s not a case of before we couldn’t do anything, and now we can do everything. It’s just that on June 26, 2000, we can do a little more than on June 26, 1999.”
The human genome is the biological blueprint of the 3 billion pairs of chemicals inside human DNA. It maps how those pairs are arranged to construct the genes that serve as instruction manuals for life functions.
Researchers can study genetic variations in different people, as well as in animals, to locate eye color, height and genetic diseases. By pinpointing genes and understanding their functions, scientists say they will then be able to improve genetic treatments.
At the University, researchers are utilizing genetic information to study, among other diseases, cancer and neurological disorders. The databases created by Celera and the Human Genome Project will aid in that research by improving data search mechanisms.
“The biggest impact is that we’re going to move quickly from the bench to using computer applications in studying this data,” said Dr. Harry Orr, human genetics director.
The Human Genome Project allows free access to its continuously updated Internet database. Celera has said it will make its findings available at a later date. The private company will charge users a subscriber fee for access to its data-crunching search tools.
While the benefits of gene therapy treatments have been lauded by many, some are concerned about the potential for so-called designer babies and the rampant availability of genetic information.
“Issues like cures versus enhancements, and how do we draw that line. We haven’t figured those out yet,” said Kahn. “It also raises the questions: Will employers have access to this information? Will insurers?”
Despite these concerns, few legal protections exist regarding genetic discrimination at either the state or federal level.
“It’s a patchwork quilt and completely inadequate in Minnesota and federally,” said Susan Wolf, a professor of law and medicine.
Minnesota is one of about 25 states that has enacted some form of genetic discrimination protection in the areas of health and life insurance.
A 1996 federal statute outlaws discrimination in some types of group health insurance at the national level. The Americans with Disabilities Act also offers some protection.
“But, at each level it’s flawed and partial,” Wolf said.
“We need strong protections,” she added. “Once this information is out there it’s very hard to get back.”
The tandem announcement of the rough draft marked an unexpected scientific dÇtente between the rival research teams which, up until a week ago, were in a heated race for the prized genome.
By calling a truce, the camps acknowledged the contributions made to the research by both sides.