"Where are all the touted breakthroughs, the miracle drugs and diagnostic tests, predicted five years ago? Finding out that humans have about the same number and some of the same genes as a worm may be interesting to somebody, but it's hardly a health care revolution, much less worth the more than $3 billion that have so far been spent on decoding."
| The genomic case for universal health coverage. |
Of course, people can perhaps be forgiven for not wanting to recognize that they don't have many more genes than round worms or fruit flies - a blow to humanity's ego that's about as powerful as Copernicus's discovery that the earth revolved around the sun instead of vice versa.
As a doctor schooled to some degree in science, I believed (and still do) that decoding the human genome might be the most important milestone in the history of medical science. To borrow Mr. Clinton's metaphor, the full genome offers researchers the sequence of all the letters of the human book of life, a monumental resource despite our imperfect understanding of the book's overarching, mind-boggling complexity. As decoding gathers speed, it promises to change just about everything we know about medicine in the form of understanding, prediction, prevention, diagnosis and the treatment of disease. And in so doing, it also offers us a remarkable opportunity to solve the huge and nettlesome problem of paying for health care in the United States.…”
Knowledge of the genome has greatly improved our ability to predict an individual's predilection for a host of diseases. Thousands upon thousands of markers have been identified throughout the genome and linked to particular mutated, deleterious genes associated with specific medical problems. The presence of these markers can be determined by placing a single drop of blood onto a particular type of slide called a microarray. Microarrays, in turn, are read automatically by laser scanners and the results, thanks to bioinformatics, can be analyzed instantly by computers armed with appropriate software and statistical data.
The importance of a rapid increase in prognostic ability is underlined by the growing understanding that every disease has a greater or lesser genetic component. Patients can now avail themselves of preventive measures or treatment even before symptoms occur. But there is a down side. First of all, we can predict more and more diseases that are associated with progressive disability and death and which have, as of yet, no treatment. Finding a marker linked to such an illness is thus the cruel equivalent of an extended death sentence. Understandably many people would not want such a test and would hardly classify having one as a positive health care breakthrough.
Another, and possibly more important, negative consequence of this new ability to predict illness is the potential for discrimination in one form or another if confidential health information is released. Unfortunately the chances of such a breach of privacy occurring, despite lip service by politicians to prevent it legislatively, are probably inevitable. Not only is microarray technology easily accessible, but for-profit private insurance companies have strong incentives to use it to protect their bottom lines by denying service, claims or even coverage.
It is precisely this danger, however, that may lead to a great breakthrough: the inevitable movement to universal health care. In this dawning era of genomic medicine, the result may be that the concept of private health insurance, which is based on actuarially pooling risk within specified, fragmented groups, will become obsolete since risk cannot be pooled if it can be determined for individual policyholders. Genetically determined predilection for disease will become the modern equivalent of the "pre-existing condition" that private insurers have stringently avoided.…
http://www.nytimes.com/2005/05/22/opinion/22cook.html?ex=1274414400&en=247cc5098b0bd558&ei=5088&partner=rssnyt&emc=rss
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