Monday, August 06, 2001

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"The human genome sequence will dramatically alter how we define, prevent, and treat disease. As more and more genetic variations among individuals are discovered, there will be a rush to label many of these variations as disease-associated. We need to define the term disease so that it incorporates our expanding genetic knowledge, taking into account the possible risks and adverse consequences associated with certain genetic variations, while acknowledging that a definition of disease cannot be based solely on one genetic abnormality."

"In thinking about how clinicians use the term disease, we think that three elements should be considered: disease is a state that places individuals at increased risk of adverse consequences. Treatment is given to those with a disease to prevent or ameliorate adverse consequences. The key element in this definition is risk: deviations from normal that are not associated with risk should not be considered synonymous with disease. Our definition has three definable elements and should serve clinicians well. Of course, its success will depend on whether it becomes clinically useful."

redux [11.16.00]
The New England Journal Of Medicine: Correspondence Will Genetics Revolutionize Medicine?

"Neither we nor our critics defined a revolution in medicine. We mean a paradigm shift in theory or practice. Sotos and Rienhoff's plea for "precise diagnosis" epitomizes the current paradigm. In most of those who will have common disorders, the interaction of genetic, environmental, and behavioral factors makes the quest for precise diagnosis illusive. "

"The revolution in medicine will come with the recognition, based in part on genetic research, that the quest for single causes for common diseases will seldom be fruitful and that a new paradigm of a causal web must be adopted. Interventions must be directed at the most vulnerable points in the web. Sometimes this will involve biomedical interventions. At other times, it will involve modifying aspects of our social structure, lifestyle, or environment that increase the risk of disease."

redux [12.07.00]
Wired News A Search for the Healthy Genes

"Like many revolutionary ideas, his point is simple. Researchers trying to develop drugs focus on figuring out why people get diseases."

Why not instead try to figure out why people stay healthy?

"It's wrong to first look for mutated bad genes," Olsen said. "Why not look for mutated genes that make people healthier? The concept that understanding a basic biological defects is most important (for developing drugs) is not actually logical."

Most of the activity in genetic research is focused on finding disease-associated genes. Almost every day it seems one researcher or another announces a new gene discovery. But it's no simple task to fix broken genes, and this approach is getting researchers nowhere fast, Olsen said.

He called it the "gene today, gone tomorrow" syndrome. Researchers find a disease gene, but the discovery offers no way to intervene in the disease pathway."