This year marks a decade since scientists sequenced the human genome. Where are all the lifesaving drugs we were promised?
SP: Despite the hype that often surrounds scientific breakthroughs, a discovery today does not mean a new treatment tomorrow. Typically, new discoveries do not lead to clinical applications for 15 to 20 years.

This has been true for every major advance in health care: vaccinations, antibiotics, open-heart surgery, chemotherapy and organ transplantation. The process of transforming scientific insights into clinical applications is always slow and challenging. We should expect nothing different with the human genome.

Does that mean we have yet to cross the starting line?
SP: No, we've moved well on down the road. In 2000, scientists completed the first draft of the human genome, the three billion chemical units in the human genetic instruction set. With that guidebook in hand, researchers set to work to see if any of the variants were more common in patients suffering from disease than in healthy subjects.

These studies require large numbers of patients and cost several million dollars apiece. Today, scientists have completed approximately 400 of these analyses, which are known as genome-wide association studies. With this research, scientists have linked hundreds of common genetic variants to various diseases.

Happily, we are now beginning to see the effects of this work in the pharmaceutical industry's "pipeline" of products. Deciphering the genome has led to an array of diagnostic tests that will soon emerge. These tests, for conditions like autism and lupus, will not be a magic bullet for curing disease. But they will give physicians important tools for better administering patient care.

Diagnostics are great, but what about the drugs?
SP: In medication development, finding a gene is only the first step. Genes serve as the body's recipe for making proteins, and most drugs work by blocking or enhancing the activity of a particular protein.

The genome sequence has accelerated the process of identifying such proteins, but it hasn't told us the role these proteins play in human disease or how to create medications to interact with them. 

That sounds depressing. Should we fold up our tents and go home?
SP: Absolutely not. Take, for instance, what's going on at the Oklahoma Medical Research Foundation.

In the late 1990s, using a database of proteins spawned by the Human Genome Project, an OMRF team led by Dr. Jordan Tang identified a cutting protein in the brain. This led to Dr. Tang's crucial discovery about the cause of Alzheimer's disease. Only now, more than a decade later, is an experimental drug based on this work entering crucial phases of human clinical trials.

Like Dr. Tang's Alzheimer's drug, a majority of medications now being developed by pharmaceutical companies have been touched in some way by genomics, the field of research devoted to studying the genome.

However, this is no Midas touch. New medications, no matter how they are discovered, must still undergo clinical trials for safety and efficacy. That process is lengthy, expensive and fraught with failure. Only now are the first genomic medications beginning to emerge.    

Can you tell us about one of those emerging drugs?
SP: A great example is Benlysta, a medication developed by the company Human Genome Sciences for the treatment of the autoimmune disease lupus.

The company took an early and aggressive approach to mining the genome sequence for information. Its efforts uncovered a gene for a protein that tells the immune system to pump out B cells, the body's antibody factories.

In lupus, the body mistakenly turns its antibodies against itself. So the company developed a counter-antibody to block the stimulating factor that led to overactive B cells.

The multiphase clinical trials process that followed took many years and was conducted at many sites, including OMRF. But in the final, determinative stage, a substantial number of patients treated with Benlysta had a significant improvement in lupus symptoms, compared with patients getting a placebo.

So Human Genome Sciences has now filed for approval from the Food and Drug Administration. If the FDA grants the application, Benlysta will be the first new medication approved for treating lupus in more than a half-century.

Are there new genomic drugs to treat other conditions?
SP: Several new "targeted" cancer drugs block the effects of genetic abnormalities that spur tumor growth. And a recently approved osteoporosis medication also has its roots in the genome project.    

So you'd say that we're beginning to see payoffs from decoding the genome?

SP: Discovering the identities of the 22,000 human genes that make up each of us has led to remarkable advances in scientific knowledge. Still, the genetic roots of disease have proven far more complex than we imagined.

The genome's trove of information is now in our hands. With time, we are sifting through it and finding the treasures. The benefits to human health have begun to arrive, and many more are on their way.