Collins Discusses Implications of Human Genome Project
by Betty Chan
Francis Collins' lecture initiated the opening ceremony of the first-ever international undergraduate bioethics conference, "Bioethics in the New Millennium," at Princeton University on Friday, 26 February 1999. Collins, a physician-geneticist, is Director of the National Human Genome Research Institute at the National Institutes of Health (NIH). He is their second director after James Watson. His main task includes overseeing the Human Genome Project, which commenced in October 1990 and is expected to terminate in 2003. Right before Collins was scheduled to speak, he was able to obtain an update of the project. He displayed great pride in announcing that 280 million base pairs, representing 9% of the human genome, have been sequenced, with an error of 1 in 10,000 base pairs. The Human Genome Project is currently receiving the largest public funding for biological research, and 5% of it is set aside to deal with ethical, legal, and social issues that the project brings up.
There is no doubt that the rapid advance of the Human Genome Project runs parallel with worldwide bioethical concerns. One of the main issues is whether an individual will be protected from possible abuse and exploitation once the entire human genome has been sequenced. In the lecture, Collins listed some of the promising uses the project has to offer, and he also addressed the implications that arise.
According to Collins, the completion of the Human Genome Project will provide a plethora of resources for scientists from all fields. Information on the human genome will lead to the emergence of the human genome sequence, bioinformatics, catalogs of human variations, human genome maps, chips and other new technologies, and model organisms just to name a few. More importantly, medicine will be greatly accelerated by the project. Almost all diseases have a genetic component. In addition, every one of us carries 5-50 genetic flaws that, when interacted with our environment, put us at risk. Completion of the project will allow mapping and cloning of the gene responsible for these diseases. The basic biology of the defect will be analyzed; drug and gene therapy, along with preventive medicine, will aid people in living longer and healthier lives.
Collins then spent the latter half of his lecture discussing some questions and concerns he encountered as director of this project. He addressed five issues:
1) Will people be protected by federal legislation? Upon the completion of the Human Genome Project, information on one's genetic background will be widely accessible. An individual needs to feel safe after learning (s)he will have a late-onset of a genetic disease. Currently, Senator Bill Frist (R-TN), as a former heart transplant surgeon, is the only senator who has direct knowledge in the field of medicine.
2) Will people be exploited? Collins presented an advertisement for genetic testing for breast cancer in Jewish women. The exam was not clinically proved to be effective. The culprit responsible for this false advertisement was a surgeon who specializes in mastectomy. Regulation is clearly needed to protect individuals from this type of exploitation. Collins added that members of the Secretary's Advisory Committee on Genetic Testing will be announced in March.
3) Will health providers be educated? Doctors and nurses need to know that there is no such thing as RNA-DNA pills. The National Coalition for Health Professional Education in Genetics will be responsible for this important task.
4) Will people succumb to genetic determinism? If all aspects of human life are a result of genetic contributions, then one can blame the four nucleotides -- adenosine, thymine, guanine, and cytosine -- for everything.
5) Will there be a consensus concerning the limits of genetic technology for trait enhancement? There is no question that individuals would want a battery of tests on developing embryos and fetuses to test for high intelligence in addition to Down Syndrome and other chromosomal defects. Without regulation, "humans will be an engineered product rather than a free creation of chance." Collins retorted that one doesn't need to be a bioethicist to realize this; the quotation was taken from the Unabomber.
Overall, Collins stressed the importance of regulations in the process of a basic science becoming a product as a response to these issues. He predicted more issues to come forth as we approach 2003, when the Human Genome Project is scheduled to be completed. Collins ended his lecture with a quotation by Thucydides: "The bravest are surely those who have the clearest vision of what is before them, glory and danger alike, and yet notwithstanding, go out to meet it."
(Editor's Note: Irma Jarcho covered Collins' address to the National Association of Biology Teachers on the medical consequences of genetic information in October 1996 in our Winter 1997 issue.)
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