The Challenges and Impact of Human Genome Research for Minority Communities
from a conference presented by
As you read this, the first phase of the Human Genome Project (HGP) will have just about been finished, its first major milestone achieved. A nearly complete, "draft" version of the entire human genome, all of the chromosomes containing the 3.2 billion base pairs of DNA, will have been determined and deposited in publicly accessible databases for anyone to view and use. Scientists will know almost all of the human DNA sequence, containing the essential information for all the "parts" that make up all of the approximately 10 trillion cells in an adult human body and carry out all the functions inside each of those cells. Biologists will have begun to identify all the basic genetic building blocks, some 120,000 genes and will be computationally exploring what they do. Perhaps 30% of those genetic "parts" will be tentatively "annotated," that is, assigned a reasonably certain biological function and purpose. Technologies for DNA sequencing will have progressed to the state that a highly organized and well-equipped sequencing center can determine on the order of 30,000,000 base pairs of DNA sequence in a day, equivalent, if printed, to a 1600 page phone book. With this complete "parts list" in hand, and using modern DNA manipulation and analysis technologies, a scientist in her or his lab can find the location of any gene in the vast human genome and amplify, study, and characterize it. The promise from this ambitious effort is huge and the outcomes will dramatically affect the economy of the United States. In part as a direct consequence, these DNA technologies and the resulting information will have many impacts on other aspects of society.
In 1986, scientists in the U.S. DOE started the HGP as a way to explore newly developing DNA analytical technologies that might better assess mutations from radiation. (Mutations had been understood since the work of Watson and Crick as abased n changes in the sequence of the four bases that comprise DNA. Thus sequencing the human DNA in its entirety would provide a reference for evaluating the effects of radiation-induced mutations.) DOE’S network of National Laboratories, its experience with large projects (e.g., particle accelerators), and the availability of both interdisciplinary teams of scientists and powerful computational facilities, all made DOE a logical, if unexpected, agency to begin a massive effort to sequence the human genome.
Each of us is a unique individual. Each of us has a genome, consisting of some 3.2 billion DNA bases inherited from our mother, plus an additional and very similar 3.2 billion inherited from our father. Each of us differs in DNA sequence by about 1 base in every thousand, for a total of between 3 and 6 million differences. While these differences underlie our uniqueness and individuality, it should be clear that we are about 99.9% the same as anyone else and this is true regardless of any distinctions based on ethnicity, race, gender, or anything else. However, while this 0.1% difference accounts for much of what makes us individuals, there are other contributing factors as well, man of them non-genetic (such as the environmental input). Numerous studies of identical twins have shown that identical twins genetically identical from conception, are not identical for various traits and diseases. The are often observed to be more similar than either non-identical siblings or random individuals, but still very often non-concordant.
The importance of this observation is that while we can expect to learn much from studying a person’s genome, there is a limit to what it can tell us even when we "know" it in its entirety. After all, what better genetic test can there be than to have a identical twin to observe? So it is necessary to be extremely cautious and alert to "genetic determinism," the trap of assuming that more is due to genetic inheritance than in fact is.
At the outset of the HGP, several people recognized that ethical, legal and social issues (abbreviated "ELSI" would be challenges. Much of the initial credit goes to Dr. James Watson, co-discoverer of the structure of the DNA molecule, and first director of the Genome Office at the National Institute of Health. In 1988, Watson noted the concerns about ELSI and set aside some funding to study the issues that would arise from the HGP. DOE soon followed suit setting aside funds from its genome research budget and participating in joint coordination activities between the two agencies’ programs. A non-exhaustive list of some of these issues includes:
Presently, most of these questions represent untested social and legal scenarios that also presuppose much highly questionable science. Ultimately, they will only be resolved by courts. An additional major concern is that the impacts of many of these applications of genomics may affect minority communities disproportionately; while there is little (if any) evidence of this today, it remains something we must all guard against.
The genome program will elucidate the fundamental parts list and instruction manual for a human and it will be a reference for every human on the planet. The HGP has taken great care to make it as difficult as possible for anyone to learn who are the donors of the DNA that is being sequenced by the effort. After being carefully counseled, and voluntarily giving informed consent, the donors themselves do not know if their DNA is being used, nor do the researchers know which donors provided the DNA being sequenced for the HGP. Truly this effort is for all of us, not only the medical benefits to come from it, but also the new industries, the new opportunities, and the new insights into our relation to the other residents of the world around us.
|The online presentation of this publication is a special feature of the Human Genome Project Information Web site.|