SCIENCE&HEALTH: Genome price race begins
Patients’ genomic sequence could personalize medicine, also create potential for discrimination
After cracking the human genome, companies and academic institutions are now competing for a new goal: to reduce the cost of sequencing a human genome from the current $10 million to only $1,000.
Making an affordable personal genome will change medicine and society forever, said Dr. Edward R.B. McCabe, codirector of the UCLA Center for Society and Genetics.
Knowing a person’s genomic sequence could lead to “personalized medicine,” based on unique variations in their DNA. It can also reduce health care costs by incorporating genome-based information about possible health risks into a prevention or treatment plan.
McCabe noted how newborns in California are currently screened for over 30 genetic diseases, one of which is Phenylketonuria, which can cause mental retardation.
The effects of this disease can be avoided through dietary restrictions in the first few months of the baby’s life, he said.
But PKU, a single-gene disorder, is easier to identify than other diseases caused by multiple genes.
“We have a long way to go in terms of understanding biological systems,” said McCabe.
Unknown interconnected pathways, networks and molecular systems that give rise to the workings of cells, tissues and organs within a body are yet to be discovered.
“Studying slight and major variations between human genomes will bring forth much more knowledge of the interactions between proteins and molecules coded by DNA. Biology, a descriptive science, will become a quantitative, mathematical science,” McCabe said.
Many companies are trying to make the understanding of such systems possible through more affordable genomic sequencing.
Solexa Ltd. expects its first-generation technology to enable whole genome resequencing for less than $100,000 per sample, according to a press release.
Its longer-term goal is to reduce the cost of human resequencing to a few thousand dollars for use in a wide range of applications from basic research to clinical diagnostics.
Beverly Hayon, spokesperson for Kaiser Permanente, the United States’ largest HMO, acknowledges future issues in health coverage brought about by availability of individual genomes.
Employers are currently eliminating certain health benefits for pre-existing conditions, Hayon said. But with the knowledge provided by an individual’s genome, employers may refuse to provide coverage for individuals who are predisposed to certain costly conditions.
“As a health provider, we endorse any laws that would prevent discrimination,” she said.
Many U.S. states have now passed antidiscrimination insurance legislation and antidiscrimination employment legislation. The U.S. Equal Employment Opportunity Commission has ruled that the Americans with Disabilities Act should apply to discrimination based on predictive genetic information, but the legal status of that construct remains in some doubt.
“As this concern finds its way into the House of Representatives, it may be the new civil right,” said McCabe.


