AUGUSTA, Ga. – The Georgia Health Sciences University Cancer Center is now the only cancer research center in the state that can sequence the entire human genome in 24 hours for about $6,000—thanks to an upgrade in technology that researchers believe will allow them to develop more targeted therapies for cancer. Until very recently, the cost was more than $20,000 to sequence an individual genome.
Cancer researchers used to have to analyze individual genes—often many thousands of them in a process spanning several years—for mutations, scouring certain regions of the genome implicated in specific tumor types, said Lesleyann Hawthorn, a geneticist and Director of Shared Resources at the GHSU Cancer Center. But over the past decade, years have morphed to weeks, and now hours, as technology has improved through a push by the scientific community for faster and less-expensive gene sequencing.
“Nationally, since 2001, scientists have been working toward sequencing the human genome within 24 hours and for under $1,000, and we are now approaching that,” said Hawthorn, noting that the first draft of the human genome took 13 years and $3 billion to sequence. “As a result, our researchers are now able to work more effectively in identifying specific mutations in hard-to-treat tumors, to help us develop treatments targeted to that particular person and tumor type.”
For example, Dr. John Cowell, Associate Director for Basic Research at the GHSU Cancer Center, will use the new technology to identify genetic causes of poor outcomes in patients with Wilms tumor, a childhood tumor of the kidney, ideally yielding an affordable and personalized test to identify higher-risk patients.
In addition, Hawthorn and Dr. Thomas Samuel, a breast cancer clinician/researcher at the GHSU Cancer Center, have been studying triple-negative breast cancers, a subtype with a dismal survival rate of 14 percent. This type of cancer—which strikes younger-than-average patients with greater virulence—doesn’t express the same hormone receptors and epidermal growth factor receptor as other breast cancers, making current targeted therapies useless.
“With our new technology, our approach is to survey the entire genome of these tumors to look for mutations and to create a pan-genomic profile,” said Hawthorn. “This study has the potential of uncovering much-needed targets so we can design therapies formulated specifically for this subtype of cancer.”
Personalized medicine is one of many focus areas of the GHSU Cancer Center as it advances its goal of National Cancer Institute designation, said Dr. Samir N. Khleif, Director of the GHSU Cancer Center. “New technologies such as this create a synergy, attracting high-level researchers and new grants that enable us to move closer to developing better tools for personalized medicine,” said Dr. Khleif. “That is our ultimate goal—to provide effective, personalized therapies that will fight cancer while allowing patients to continue to live a healthy and active lifestyle.”
Along with the genome-sequencing upgrade, the GHSU Cancer Center can now sequence single exomes—the protein coding part of the genome—on a single run of a new instrument called the MiSeq. All upgrades and new instrumentation were supported through a $2 million grant from the Georgia Research Alliance.