Someday, genomic sequence testing will help doctors identify whether newborns will develop health problems later in life.
That may seem like science fiction now, but improved technologies and techniques are making genetic sequencing quicker and far less expensive.
Mapping the human genome the first time cost about $3 billion, said John Kececioglu, University of Arizona associate professor of computer science and BIO5 Institute member. Some operations have brought the price down to $5,000.
Kececioglu is conference chair for RECOMB2009, an international conference on computational molecular biology research that will run Sunday through Thursday in Tucson.
Genomic sequencing determines the order of key components in genetic material. Abnormalities such as mutations can mean certain diseases are likely to develop.
All biological processes are governed by the 3 billion lettered segments and their order in human DNA, he said.
“There is a goal to have a $1,000 genome test that a person can actually purchase,” Kececioglu said. “Companies are making use of this data to uncover what disease susceptibilities an individual has.”
Genomics and the environment, including such behaviors as smoking and drinking, contribute to disease, and researchers are trying to offer insights on DNA’s role in the equation, he said.
In addition to identifying the diseases a person is likely to get, markers in a sequenced genome can offer information on which drugs and therapies will best help a person prevail against a specific type of cancer or other disease, he said.
“It’s key to prevention,” Kececioglu said. “It could make health care much more efficient and effective.”
“It’s certainly becoming affordable,” he said. “You do it once in a lifetime. Your genome does not change.”
Continued decreases in price could make use of the tests more commonplace.
If the cost drops to $1,000, it could make economic sense to sequence DNA on all 4 million children born in the United States each year, said Rade Drmanac, chief scientific officer and co-founder of Complete Genomics Inc.
Drmanac will participate in a RECOMB2009 industry panel discussion on personalized genomics.
His Mountain View, Calif., company offers sequencing to research organizations and drug discovery firms for $5,000.
Sequencing efficiencies are expected to increase in the next two to three years, he said, and costs will continue to go down, opening the door for widespread use of the technology.
“The bottom line is we know that having complete and accurate genome sequencing is an absolutely necessary basis for the advance of low-cost health care,” Drmanac said. “We need to do complete genome sequencing to find the genomic basis for disease.”
Pre-diagnosis leading to targeted checkups and early detection can save lives.
Although information from sequencing can benefit health, some fear it could also be used by insurance companies to deny coverage, Kececioglu said.
“The privacy issues are very important. That information is not shared with anyone besides the patient,” he said.
RECOMB2009 will attract 275 top researchers in the computational, mathematical and biological sciences coming from 18 nations, Kececioglu said. It is not open to the public, however.
The BIO5-hosted event, he said, will offer the latest information on how computers help make sense of the huge amount of bioresearch data being produced.