What if you could predict your chance of a heart attack, stroke or cancer years -- or even decades -- in advance? Better yet, what if the treatment for these and other complex diseases was so customized that you could avoid side effects, ineffective drugs and lengthy medical deliberation? 

That's the promise of personalized medicine, a prospective healthcare model that treats individuals according to their personal genetic profiles. Genomics -- the revolutionary science behind this idea -- can now begin to pinpoint specific genes that influence risk. 

In the coming years, the field is expected to radically change the clinical, pharmaceutical and medical science industries -- while also saving lives. The Coriell Institute for Medical Research in Camden, NJ, is playing a pivotal role in determining how. 

The Coriell Personalized Medicine Collaborative (CPMC), launched in December 2007, is a multi-faceted, multi-partner study to determine how the growing library of genomic discoveries can be best put to use. The study employs volunteer patients, medical professionals and cutting-edge gene-identifying technology. Coriell hopes to run CPMC for a decade or longer.

"We see ourselves as a hub-and-spoke model," says Courtney Kronenthal, director of communications and development. "We have all different kinds of studies going on with these different partners, all around CPMC."

CPMC has demonstrated remarkable growth in less than six years. The study began with a goal of enrolling 5,000 patients; it currently has 8,000. Their early partnerships included Cooper University Hospital, Virtua Hospital and the Fox Chase Cancer Center; University of Pennsylvania, Ohio State University, Stanford University, Boston University, and the U.S. Air Force have since signed on. Along the way, they've been called "Pioneers in their field" by the Department of Health and Human Services, a "Top ten research project to watch in the world" by MIT Technology Review, and "leading by example" in Nature Magazine. 

Coriell has also been called "the hidden gem of Camden."


An unassuming cement façade across the street from Camden's Cooper Hospital houses one of the world's leading bio-banks. Every year, Coriell supplies hundreds of thousands of human cell-line samples for medical research projects in 65 countries, hitting every continent but Antarctica. 

The Coriell Institute -- originally named the South Jersey Medical Research Foundation -- was formed in 1953 through the leadership of Dr. Lewis Coriell, a medical scientist and inventor who discovered a revolutionary method of preserving human tissue samples by freezing them in liquid nitrogen. Over its sixty year history, Coriell has been part of countless medical discoveries that influenced our understanding and treatment of many diseases. Their website's tagline reads: "From Polio Vaccine to Genetic Medicine."

Fast forward to 2003, when the federally supported, Human Genome Project completed their genome "map," determining every possible gene that belonged to the human species. By 2007, scientists had compared enough individual genomes to verify a critical discovery: All human beings, regardless of race or ethnicity, are over 99 percent genetically identical. The less-than-one-percent difference helps determine our height, looks, personalities, talents -- and how we get sick.

At this point, the question for medical science became, which genetic differences influenced specific health outcomes? Answering this is no small task. For starters, the less-than-one-percent has at least a million genetic variations -- called single-nucleotide polymorphisms (SNPs). 

Shortly after the less-than-one-percent discovery, Coriell's then-new president, Dr.Michael Christman, proposed what would become CPMC.

"We recognized there was this need to personalize medicine," says Kronenthal. "We realized we could make a difference in this field by trying to understand the utility of using genetics in medicine. How can we use our own genetics to improve our healthcare?" 

Fortunately, determining an individual's genetic profile is relatively simple. Coriell takes a sample of the patient's saliva, fishes out sloughed-off skin cells, isolates the DNA and injects it into a purple "gene chip" slightly smaller than a postage stamp. 

The silicon surface of the chip has targets for all one million known SNPs. The patient's SNPs bind to these and excess DNA is removed through a wash cycle. The SNPs remain and are dyed with fluorescent ink. These are then recognized and digitally recorded using a laser scanner. The whole lab process costs several hundred dollars. 

Because of the relative accessibility, it wasn't long before a swarm of for-profit companies began selling personal genome tests. According to Kronenthal, many of the gene-disease associations these companies shared with customers weren't supported by substantial research. Furthermore, the companies didn't offer genetic counseling, leaving the consumer to decipher the results. Within a year, most of those companies were issued cease and desist letters by their state health department. 

"It was too early to be in a business arena trying to sell this information," explains Kronenthal. "The interpretation is still limited. We need to do research on this. We need to see how this can work." 

CPMC curates the wide body of genomic studies to determine which genes are scientifically proven to affect certain health outcomes. They offer results to patients "spoonful-by-spoonful," only after the result is deemed "actionable" -- meaning the gene is a proven factor of the disease and knowing so could affect prevention or treatment. The gene associated with psoriasis, for example, doesn't make the cut because knowing you have it won't change the treatment.

Along with results, Coriell provides educational information, guidance videos, live forums and webinars with physician and genetic counselors, and the option of individual genetic counseling. They follow up with an outcomes study to better understand the usefulness of this information. Does the patient change their diet and exercise habits if they know they have genes associated with type-two diabetes? Do they choose to share that information with their doctor? Ultimately, does genetic knowledge affect the treatment of complex diseases? These kinds of questions can take generations to address.

CPMC is particularly interested in genetic associations influencing drug metabolism -- called drug "pathways." This information can help dictate the drugs and dosages prescribed. Coriell has a gene-chip exclusively for the 2,000 SNPs effecting drug pathways.

To help determine actionability, Coriell has two External Advisory Boards which include physicians, clinicians, pharmacists, scientists, academics, ethicists and community leaders including Reverend Floyd White, President of Camden's Woodland Community Development Corporation. 

"It's a really big question," says Kronenthal. "We really wanted to get a broad perspective. It's not meant to be just a medical board. It's meant to be different voices in the room talking through actionability." 

When you think about it, personalized medicine isn't new. Patients are routinely asked about family history during health screenings. With the advance of genomics, however, doctors have the potential to access the patient's exact points of genetic variation, retrieve the associative conditions, and prescribe accordingly. It has the potential to save time, pain and billions of wasted healthcare dollars.

(Thankfully, the Genetic Information Non-Discriminatory Act (GINA), enacted in 2008, protects patients from having their health care policy (and employment) affected by genomics.)

These discoveries could also change the pharmaceutical industry. For example, it's likely that Lipitor, a cholesterol-lowering medication and one of the most commonly prescribed drugs, doesn't work on thirty percent of patients. Genomics is starting to discover the responsible genes. Likewise, knowing which genes affect which drugs could keep some products on the market. Vioxx, a drug for arthritis, was pulled from the shelves several years ago because it was associated with an increased risk of heart attack in some people. Once genomics determines who those people are, a drug like Vioxx -- and all the development that went into it -- might not be wasted. 
"Just test before you dose," says Kronenthal. "Let the people for whom the drug actually works take the drug."

Currently, Coriell returns results for genetic markers of 15 complex diseases, including Coronary Artery Disease, Lupus and Crohn's Disease, and markers influencing responses to four different drugs. They expect to add several more in the near future. As the study moves along, Coriell hopes to play a role in determining new genetic associations. 

"From day one, we didn't know what information we would give back, but we did know that information would grow over time," says Kronenthal. "As new science happens, we go back to all our participants."

And it doesn't end with Genomics. Coriell is also conducting studies with Induced Pluripotent Stem Cells (IPSC). This science takes a sample of a patient's skin or blood and "genetically re-winds" the cells to an early developmental stage. Those cells can then be "triggered" to develop into heart, bone, liver, or other tissues. 

Using IPSC, personalized treatment for a heart attack could include injecting the patient's own heart cells into damaged areas.
Coriell currently has over 70 IPSC samples, the world's largest collection. They just received a grant from the California Institute for Regenerative Medicine to set up a West Coast site that expects to bank 3,000 more.

"Some see us as this hidden gem in Camden," says Kronenthal. "But we have a bigger footprint."

The University City Science Center has partnered with Flying Kite to showcase innovation in Greater Philadelphia through the "Inventing the Future" series.