Taking it to the BioBank


Ask Mark Bouzyk to tell you what he does, and his answer depends on who is asking the question.

     If you’re a clinical investigator looking to add genetic analysis to your federally funded study, he might talk to you about the need to select the most appropriate (and cost-efficient) genotyping platform. He might tell public health faculty about his plans to partner with the American Cancer Society (ACS) to design a large-scale population study in search of genetic links to breast cancer and obesity. He might share information with researchers at the Winship Cancer Institute to help them determine why some patients do well on a trial drug while others do not.
     In short, Mark Bouzyk—who became director of the Center for Medical Genomics (CMG) just over a year ago—is banking on the future of genomics. He sees enormous untapped potential for clinical genetics at Emory, and he wants to invest for the future.
     “The costs of sequencing and genotyping have dropped considerably in the past three years. Now high-throughput genetic analysis is within the budget of many typical NIH RO1 research grants,” he says. “Just a short time ago, it was prohibitively expensive.”
     This drop in cost, coupled with a wealth of information about the human genome now in the public domain, has enabled Emory both to pursue cutting-edge genetic research and to develop new genetic and diagnostic screening tools.
     For example, a key focus of the CMG is on single nucleotide polymorphisms (SNPs). These are DNA sequence variations that occur when a single nucleotide in the genome differs among members of the same species. SNPs with a minor allele frequency of greater than 1% occur approximately every 300 bases along the human genome, and these common SNPs make up 90% of human genetic variations. These variations in the DNA can affect how different humans respond to diseases, bacteria, viruses, and drugs.
     More 10 million SNPS have been identified and mapped on the human genome—in specific study populations can yield important information about genetic predisposition to disease and how effective different treatments will be.

Creating genetic wealth
Under the leadership of geneticist Steven Warren, Emory established the CMG in 2002 to provide DNA extraction, storage, and analysis capabilities in support of work done by faculty in the Department of Human Genetics. In August 2005, the center moved into a brand new high-throughput genetic analysis lab in the same building with geneticists who counsel patients about risk factors for disease. The CMG is gearing up to rapidly translate new genetic knowledge into new diagnostic tools.
     Currently, the center is seeking certification as a clinical lab through the College of American Pathologists and meeting requirements of the federal Clinical Laboratory Improvements Act. With blessing from these organizations, it can pursue development of clinical tests that follow through on its basic science discoveries.
     “If we find that a gene is linked to a particular disease or condition, then we can develop a diagnostic test and pass it down the corridor,” says Bouzyk.
     In addition, the center provides support to investigators across the health sciences who want to incorporate genetic studies into other research. With gene sequencing and genotyping technologies becoming less expensive, many investigators can now afford to perform either whole or partial genome scanning or large-scale candidate gene analysis in search of variations linked to a specific disease or trait of interest. However, first they need to know which techniques are best suited to the questions they are trying to ask. That’s where the CMG comes in.
     The center also can help investigators determine the affordability of the technology. For example, where some studies may project an average cost of $1 per genotype, the center may be able to reduce this cost by 30 cents or even much lower, through a combination of elegant study design and targeted selection of the right technology.

Transferring savings
Prior to joining Emory, Bouzyk worked for pharmaceutical giant GlaxoSmithKline, studying the ways that genetic variations indicate which people are better candidates for a particular drug. If drug companies can identify who has the most potential to do well on a drug, they are able to more closely select clinical trial participants for drugs that might perform less well in trials using a broader selection of the general public.
     “That’s the big thing the pharmaceutical companies are doing now,” Bouzyk says. “If they have a drug that did well in some patients but showed no response in others, they look at the genotypes of the people who did well to identify a common polymorphism that can indicate whether a particular subset of people will respond differently.”
     But Bouzyk left the lucrative corporate sector after eight years because he saw a way to do genetic research on a large scale—to add genetic analysis to almost any medical or clinical research project going. “Now that these technologies are more affordable, there is real potential to use them to benefit whole populations of people, to really expand our knowledge of genetics and the causes of disease,” he says. “I felt that an academic medical center would be the best place to pursue this type of research. And Emory, because of its proximity to the CDC, the ACS, and the Carter Center, is ideal.”
      Bouzyk also is interested in research examining why African Americans experience higher rates of many disorders, including stroke and heart disease compared with the rest of the population. With a large African American population in its backyard, Emory is particularly well suited to examine possible genetic factors that might play a role in such disparities.

Collecting deposits
As much as scientists know about the links between genes and specific diseases, it’s barely a drop in the bucket of the knowledge that’s out there, says Bouzyk.
     Eventually, researchers hope to under-stand enough of the complex interactions between genes and the environment to reliably predict and prevent disease before it occurs. To do that, however, they will have to drastically increase the genetic information currently available.
     To determine if any single polymorphism or mutation is associated with a disorder may require the genotyping of thousands of different individuals. To determine how genes and other factors interact involves the study of genetic samples taken from large numbers of people.
     Already, medical centers across the country are scrambling to find ways to harvest the genetic data from the thousands of biologic samples they obtain for clinical studies on a regular basis. The successful ones have formed “biobanks” that store large numbers of these samples linked to demographic information about the donor, says Bouzyk. These centers enjoy a distinct advantage when it comes to seeking federal support and other research funding.
     As the site of one of 60 federally funded General Clinical Research Centers, Emory is ideally positioned to start its own biobank—collecting and maintaining large stores of biologic samples for future genetic studies. Each year, the center conducts clinical trials involving people from all walks of life. Preserving biologic samples from these trials will one day yield a wealth of genetic information.
     “Across Emory, we have a large number of world-class studies—for example, in neurology and cardiology—that collect biologic samples we could store,” Bouzyk says. “If we can build on these collections across all disease and therapeutic areas and organize and make them available, this asset would be considerable.”
     Yet Bouzyk acknowledges this will take a large effort in logistics as well as grappling with issues such as IT, sample information and distribution status, and consent. Currently, the CMG is working to establish a process for obtaining consent from donors for future use of this genetic information.
     As with other biobanks, information about the samples stored at Emory could be shared via the Internet, enabling researchers from around the world to find samples that would potentially aid their research. The biobank also would link Emory’s researchers to far-flung collaborators who could help further their own studies.
     “The concept of a biobank has enormous support across the different schools and centers at Emory,” says Bouzyk. “We’ve been talking about this for some time, and now we are finally at the point we can do something about it.”

Catherine Harris is the former editor of this magazine.


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