In recent years, new phrases have infiltrated the lab lexicon: genomics, molecular diagnostics, pharmacogenomics, personalized medicine. Remember when we got introduced to the “Human Genome Project”? Despite the double-helix discovery in 1953, decoding the human genome seemed impossible. A cure for cancer seemed improbable, too, but BRCA genes have brought us closer than ever. Recent circumstances may have tarnished the perceived promise of the Project's worth. One of this month's articles reveals “the Human Genome Project (“Project”) and its offshoots have created a fertile landscape of opportunities that can contribute to furthering personalized medicine,” but also points out that “great science does not always translate to a viable commercial product” —the proverbial glass “half empty-half full” argument, depending on your point of view.
Ten years ago, the first phase of the Project was completed, yet its application to drug development is still a “work in progress.” The glass-half-empty crowd says the prediction of an abundance of new drugs the Project would surely yield has not materialized. Genetics scientists not engaged with the drug industry say the Project has brought few medical benefits. Major pharma companies' R&D spending reached $46 billion last year, with the number of new drugs approved annually still hovering at about 25. Gleevec (chronic myeloid leukemia), Tarceva (lung cancer), and Nexavar (kidney and liver cancers) have all improved treatment; but, in many cases they work best when combined with chemotherapy. Others lament: “I think there was almost a na”ivet'e that if we could find the target, we would have the cure,” says an American Cancer Society official; “In the past five years, I do not think we have made any headway.” Says an oncologist at the University of Chicago, “You have got to target a specific disease, not a biomarker,”
R&D's initial excitement about “personalized medicine” prospects has waned somewhat. Experimental drug PLX4032 reverses effects of a mutation found in certain tumors and worked well in some melanoma patients. It had little effect when used by patients with colorectal tumors with the same mutation. Other industry researchers encourage patience, saying setbacks should be accepted as part of a learning process dealing with how cancer works. “I do not find it disappointing; I find it intriguing,” says a gastrointestinal cancer specialist at a Boston cancer institute. The lead oncologist for a drug giant's cancer-related trials says, “… the era of one drug for a whole disease type has passed. We are going to go where the science leads us. We just have to get smarter about it.”
A negative spin surrounds gene patents, where lab scientists were prohibited from performing genetic tests because of patent enforcement and litigation. A federal court judge's ruled in March 2010 that Myriad Genetic's patents on the BRCA1 and 2 genes associated with breast cancer were invalid since genes are products of nature and, therefore, may not be patented. The verdict eliminates Myriad's exclusive right to conduct its $3,000 breast-cancer diagnostic test. As other companies develop and offer similar diagnostic tests, says ASCP's Executive VP, the price will come down, and a second opinion will be an option. In another spin on genomics, a Medical College of Wisconsin pathologist wrote for June's Pharmacogenomics, illustrating ways in which personalized medicine may impact our justice system: Should courts, for instance, consider identifiable biological conditions that predispose a person to criminal behavior in weighing moral culpability? Steven H.Y. Wong's premise begs the question, are we also going to go where the science leads us as far as justice is concerned?
Whatever the spin on gene patents and personalized medicine and justice, we have moved from the discovery of DNA's double helix to decoding the complete genetic composition of humans in 50 years, giving a simple hope that even limited progress may find cures for a few devastating health issues.