A pilot project in genomics testing is underway in Kazakhstan. The joint effort between Nazarbayev University and the University of Pittsburgh Cancer Institute (UPCI) is expected to determine the spectrum of lung cancer mutations in the Kazakhstan population. This will help determine the type and amount of drugs needed to treat the affected patient population and estimate costs for long-term targeted therapy.
Over the past decade, genomic medicine—the study of genes and how they interrelate—has provided physicians and researchers with very promising new approaches in cancer diagnosis and treatment. UPCI is credited with being among the first academic centers to use genomic information as a clinical tool for treatment decision-making.
“Genomics is allowing us to take quantum leaps in personalized medicine,” says Adam Brufsky, MD, PhD, associate director of clinical investigation at UPCI. “The goal in medical diagnosis and treatment is precision. We want to be able to deliver the right therapy to the right patient at the right time. Genomics is helping us get closer to achieving that very ambitious goal.”
Dr. Brufsky explains that sequencing the DNA of tumors and comparing this sequence to normal DNA from the same individual enables doctors and researchers to develop a list of mutations unique to that specific tumor. These mutations are then classified by their potential to change the structure of proteins important for cancer growth. Using sequencing technology, UPCI can essentially decipher the code of a treated but still-growing tumor, and make predictions about how aggressive the tumor is, how it will respond to certain therapies, and how best to treat it.
The decision to launch the project with lung cancer is based on the number of lung cancer cases diagnosed in Kazakhstan each year. Lung cancer is the most common cancer in Kazakhstan, with 3,638 cases (or 12.7% of total cases) reported in 2006, and it also is the most common cause of cancer-related deaths in the country.
“Perhaps more importantly, the lung has the most actionable mutations. That is, there are specific cases of lung cancer where specific therapies exist,” notes Dr. Brufsky. There are at least 15 genetic alterations in lung cancer that have known small molecule inhibitors, with more of these being added on a monthly basis. These inhibitors, which are either already approved for use in humans or are undergoing clinical investigation, can alter the pathways of mutated proteins.
“In other words, the potential exists with this project to dramatically change the course of treatment for lung cancer that is putting tremendous hardship not only on individual patients and their families, but on the country as a whole,” Dr. Brufsky says.
“Because lung cancer is often diagnosed at late, inoperable stages, patients typically need to be treated with aggressive therapies, which can be toxic and difficult to administer,” adds Dr. Brufsky. “While the Kazakhstani government is committed to providing the extensive infrastructure needed to support complications from these therapies, it also is interested in pursuing other potentially less toxic and more effective systemic therapies for lung cancer.”
Mass collections of tumor data are informing those pursuits, Dr. Brufsky explains. Analysis of the data collected has led to clinical trials that explore the use of cancer therapies that are targeted to a tumor’s individual genomic profile. Understandably, teams on both sides are anxious to push forward. “We’ve already begun the process of collecting tissue blocks and clinical data from Kazakhstan,” reports Dr. Brufsky. The sequencing and analysis will occur over the next several months.