Genome discovery to generate copious data Scientists skilled in computational biology, supercomputer needed to analyze information

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The recently deciphered human genome contains 24 chromosomes, about 30,000 genes, and more than 3 billion base pairs that must be placed in proper sequence in order to understand what makes us “tick.” At the very least, this task is going to bury researchers in a mountain of…
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The recently deciphered human genome contains 24 chromosomes, about 30,000 genes, and more than 3 billion base pairs that must be placed in proper sequence in order to understand what makes us “tick.” At the very least, this task is going to bury researchers in a mountain of data that will require skills still being developed.

“Computational biology is becoming the premier skill people will need,” says Craig Venter of Celera, whose company is cooperating with others to build the world’s largest supercomputer to analyze the genome.

It will have 1,500 gigaflops of computing power, writes Claire Ainsworth in the Feb. 17 issue of New Scientist, in comparison to one gigaflop for standard personal computers. This technical hurdle, however, seems trivial in comparison to the monumental social, ethical and legal problems surrounding what is unquestionably the most significant biological advance since Darwin’s theory of evolution.

An immediate result to come from deciphering the genome will be to speed up the rate at which faulty genes responsible for inherited diseases are determined. “It took geneticists seven years to find the gene involved in cystic fibrosis,” writes Elizabeth Pennisi in the Feb. 16 issue of Science. “Now it can be located on the gene map in a matter of seconds.”

The same is true for the BRACA1 gene that has been implicated in hereditary breast cancer. In these cases, the link between gene and disease had been established, but there is little question that pinpointing genetic defects responsible for an inherited disease suddenly has become much easier.

But there are two downsides to this advance, the first being that, while it will be easy to predict a future genetic disease, there still may be no cure. Is there any benefit to patients learning that they will be stricken with a degenerative disease in the future if no hope for a cure can be held out? A more pressing concern for civil libertarians is the possibility that a person’s genetic makeup will be used one day to deny employment or health insurance.

Last year, the journal Nature reported that the British government gave insurance companies permission to assess higher rates if genetic screening showed a predisposition to Huntington’s disease. Now the companies are awaiting permission to use six other genetic tests in making decisions to levy higher rates or to deny insurance.

Could it happen here? The March 5 issue of U.S. News & World Report ran a story that a Western railway company was drawing blood from its workers to run unspecified “genetic tests.” The workers’ union forced the company to discontinue the practice, but genetic privacy is becoming one of the most urgent concerns that lawmakers will need to address. President Clinton signed an executive order protecting federal workers from genetic discrimination, and there are several bills before Congress that would bar genetic tests from being used in hiring, promotion or the withholding of health insurance to the general public.

Francis Collins of the Human Genome Project says that the genes responsible for nearly all major inherited diseases will be known within the decade. There will need to be strong safeguards against the temptation to use this information to the detriment of the public.

Finally, a question that would have been unthinkable a few short years ago: Who owns the human genome? How can the very essence of life, contained in all of our cells, be owned by anyone? And why?

The last question is easy to answer; there are billions of dollars to be made in genetic medicine. Human Genome Sciences of Rockville, Md., is an example of what the future holds. In a new $45 million factory, the company hopes to manufacture two human proteins and a gene to heal wounds, grow new blood vessels, and protect blood-forming cells from the effects of chemotherapy. But to protect its large investment, HGS must be able to prevent others from using its research. The company already holds 162 U.S. patents on human genetic material and hopes ultimately to submit 7,500 gene patent applications.

Suppose a company such as HGS identifies and patents a genetic marker for a defective gene and makes a simple test kit based on the marker. The patent allows the company either to charge a royalty every time the test is conducted or license the test for a fee. This could have the effect of curtailing research on curing the disease because a fee would have to be paid every time the test is run during research studies. Many medical scientists now say they avoid any areas of research where the gene is patented because of royalty fees. Should the person from whose genetic material the test was derived receive any benefits? These are just a few of the questions courts soon will have to answer.

Clair Wood taught chemistry and physics at Eastern Maine Technical College for more than 10 years.


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