Sunday, June 20, 2010

The problem is not just with Rare Disorders like Kennedy’s Disease


In my two May articles, "The Clock is Ticking, So What is the Hold Up" and "Another Perspective On Research Issues," I breached the subject of the problems of finding a cure for rare disorders. After reading a New York Times article on the Human Genome Project, I felt inclined to discuss this issue a little further. It just appears that nothing comes easily or cheap in regards to breakthroughs in medicine.

The original Human Genome Project started in 1989 with the goal of identifying all three billion chemical units in the human genetics instruction set, finding the genetic roots of disease, and then developing treatments for these diseases. "It was far too expensive at that time to think of sequencing patients' whole genomes. So the National Institutes of Health embraced the idea for a clever shortcut, that of looking just at sites on the genome where many people have a variant DNA unit. The theory behind the shortcut was that since the major diseases are common, so too would be the genetic variants that caused them. But that shortcut appears to have been less than successful."

"In an announcement on June 26, 2000, the first draft of the human genome had been achieved. Mr. Clinton said it would 'revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.' At a news conference, Francis Collins, then the director of the genome agency at the National Institutes of Health, said that genetic diagnosis of diseases would be accomplished in 10 years and that treatments would start to roll out perhaps five years after that. 'Over the longer term, perhaps in another 15 or 20 years," he added, "you will see a complete transformation in therapeutic medicine.'"

The primary goal of President Clinton's initiated project on mapping human genome was to find cures for the most common diseases including cancer and Alzheimer's. After ten years and $3 Billion dollars, the article says we are back to square one in knowing where to look for the causes of most common diseases. TEN YEARS and $3,000,000,000! The article goes on to say the genetics of these common diseases have turned out to be more complex than originally imagined. It could take several more years before any major progress is made in achieving the goal.

"The last decade has brought a flood of discoveries of disease-causing mutations in the human genome. But with most diseases, the findings have explained only a small part of the risk of getting the disease. And many of the genetic variants linked to diseases, some scientists have begun to fear, could be statistical illusions." One of the examples used was the research on heart disease. Scientists tried to identify genetic predictions (warning signs) of heart disease. A medical team identified over 100 genetic variants that were linked to heart disease. Unfortunately, the variants produced no value in forecasting the disease in 19,000 women over twelve years. "The old-fashioned method of taking a family history was a better guide, Dr. Paynter reported this February in The Journal of the American Medical Association."

The article does try to justify some of the successes, however. Even though the results have generated little in new medicines, the field of medical science has changed dramatically because of this project. "Research on the genome has transformed biology, producing a steady string of surprises. First was the discovery that the number of human genes is astonishingly small compared with those of lower animals like the laboratory roundworm and fruit fly. The barely visible roundworm needs 20,000 genes that make proteins, the working parts of cells, whereas humans, apparently so much higher on the evolutionary scale, seem to have only 21,000 protein-coding genes. The slowly emerging explanation is that humans and other animals have much the same set of protein-coding genes, but the human set is regulated in a much more complicated way, through elaborate use of DNA's companion molecule, RNA. ... Little, if any, of this research could have been done without having the human genome sequence available. Every gene and control element can now be mapped to its correct site on the genome, enabling all the working parts of the system to be related to one another. 'Having a common scaffold on which one can put all the information has dramatically accelerated progress,' Dr. Lander said."

The article concludes by stating, "As more people have their entire genomes decoded, the roots of genetic disease may eventually be understood, but at this point there is no guarantee that treatments will follow. If each common disease is caused by a host of rare genetic variants, it may not be susceptible to drugs."

I concluded that the real value of this project will not really be known for several more years, but possible advantages could come forward because of this work. One benefit is already there, however. The cost of sequencing the first person's entire genome was $500 million in 2003. The cost next year is predicted to be only $5-to-10,000. These type cost reductions that could be very helpful in the future.

These articles have really opened my eyes to the cost of research. It appears nothing good comes cheap. It brings to mind the KDA slogan, "Working together to find a cure, for our generation and for our children and grandchildren." In my opinion, if spending this type money today will help bring about that cure for a future generation, it all becomes worthwhile.


 

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