At Sanford-Burnham’s 3rd annual Rare Disease Day Symposium, held today in La Jolla, Calif., keynote speaker Eric Green, M.D., Ph.D., director of the National Human Genome Research Institute at the NIH, spoke about genomic medicine. Sometimes called “personalized medicine,” or even “precision medicine,” Dr. Green defined this revolutionary field as the idea that health care can be tailored to the individual based on his or her own genomic information.
Dr. Green was there when the human genome was first sequenced in 2001 and he’s now leading the next step—figuring out how to use that information. In his talk, Dr. Green outlined five active research areas that are taking us from what he called “helix to health:”
1. Defining the function of human genome sequence. The actual sequence of the human genome was essentially just a bunch of letters. Researchers are still figuring out how to interpret that message. To do that, they are sequencing the genomes of other organisms to see what we have in common and to get clues to gene function. According to Dr. Green, we’re now at the “Cliff Notes” stage of understanding how sequence determines function. He predicted that we’ll still be working out the nuances 30-40 years from now.
2. Understanding human genomic variation. In other words, scientists are trying to determine how we all differ. They are cataloging variants across populations and entering this information into databases. Researchers are now determining which variations are biologically relevant and which aren’t.
3. Pinpointing the genomic basis for human diseases. According to Dr. Green, human disease can be divided into two categories based on their genomic architecture. Rare diseases are the first category. They result from an inherited mutation or variation in a single gene. There might be some environmental influence or secondary genetic variations that affect disease severity, but for the most part rare disease are one gene, one mutation.Dr. Green explained that we’re doing pretty well in getting a genetic inventory of genes associated with inherited diseases. Scientists know the molecular basis of approximately 3,500 diseases. But there are still about 1,800 to go.
The second category of human disease encompasses more common diseases, including diabetes, asthma, high blood pressure, and most cancers. The genetics underlying these conditions are much more complicated. They result from multiple genetic variations and are more influenced by environmental factors.
More than 1,000 genome-wide association studies of these more common conditions have recently been published. Here, scientists are taking complicated diseases and conducting genetic studies to statistically associate discrete regions of genome with risk for disease. But it’s still hard to pin these diseases to specific genetic variants, Dr. Green says.
4. Achieving routine whole genome sequencing. In order to understand the inheritance of the complicated diseases, scientists need the ability to sequence many genomes of many different patients. When the human genome was first sequenced, Dr. Green and his colleagues set a challenge to achieve the ability to sequence a person’s genome for $1,000 or less. (This was bold, considering that it cost roughly $1 billion to sequence the first genome.) But, Dr. Green says, he’s witnessed amazing wave after wave of technology development in the past 10 years. Companies working on this today are predicting that the $1,000 genome will be achieved by the end of 2012.
5. Understanding how to analyze the data. The largest bottleneck to achieving genomic medicine is the ability to make sense of the vast amounts of data that are being generated. It might even be the largest bottleneck in all of biomedical research.
Even as these challenges are achieved, at least two major hurdles will still remain: translating data into treatments and assessing their effectiveness in patients. As daunting as that might be, Dr. Green’s talk was full of energy.
“We are now marrying images of genomics and medicine in ways we couldn’t have anticipated just 10 years ago,” Dr. Green told the audience.
And he was most hopeful about the future of rare disease research. “Now is the time to push the accelerator to systematically plow through the rest of inherited disorders for which the genetic basis has not yet been identified,” he said.
Dr. Green’s words set a very positive stage for a day of exchange between scientists, physicians, affected patients and their families, support groups, granting agencies, industry, and philanthropists—all dedicated to research on the causes and treatments for rare diseases.