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.