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Aside from the fascinating scientific possibilities, an initial driving concept in the UCSC Genome Bioinformatics Group was ethical: to make the genome that contains our common heritage available to all, free of patenting and licensing restrictions. This dovetailed with the broader aims of the international project, which sought to involve researchers worldwide rather than focus efforts on just a few centers, based on the conviction that since the genome belongs to all humanity, the work should transcend national boundaries. Having achieved the goal of unrestricted access, the UCSC group continues to consider the additional ethical issues presented by our deepening understanding of our genome and its workings.
In addition, rather than assembling the genome sequence of just one individual human, the International Human Genome Project working draft combined anonymous genomic information from human volunteers of diverse backgrounds, accepted on a first-come, first-taken basis. After they were collected, the samples from the volunteers underwent further random selection, so that no donor knows whether his or her genome was actually included in the draft sequence.
Knowledge of the human genome can pose risks as well as benefits for society. Among the shorter-term risks are the specter of discrimination in employment and health insurance based on genetic information and the possibility that certain groups in society will be stigmatized based on higher incidence of particular versions of genes within these groups.
The UCSC Genome Bioinformatics group and our funding agencies strongly support proposed Federal legislation intended to address the discrimination issues. Beyond legislation, we seek to involve a diverse array of societal groups in the process of developing and disseminating our new genetic knowledge. We must make it clear from the beginning that this is an exploration of all of the diversity and commonality of our human heritage, carried out jointly by all people. To help achieve this goal, we have applied for and received a supplement to our NHGRI grant that is specially designed to engage individuals from under represented groups in our research and educational mission. Visit our diversity outreach page for more information.
As genomic technology evolves, it will become increasingly easy for individuals to learn about their genetic predispositions. For some individuals, this will evoke the psychological effects of knowing that he or she has a currently incurable genetic disease that will manifest itself later in life. Since the psychological effects of genetic knowledge are best addressed by professional genetic councilors, the UCSC group strongly supports the efforts of NHGRI to work with public health agencies to train individuals to provide such services.
One significant risk for the more distant future is that knowledge of our genome, combined with some future technology for modifying or selecting the genetically inherited traits of our children, will create social pressures on parents to try to “enhance” their children’s genes. Such technology is not available now, and is a long way from realization. This brings up ethical issues that demand widespread discussion engaging all segments of human society. It also brings up the importance of maintaining genetic diversity. For example, many human traits are linked to other, unseen traits that have protected their bearers from disease or otherwise enhanced viability.
A knee-jerk reaction might be to seek restrictions on research into the human genome sequence. This is happening in a different arena today, where some are seeking to extend what are necessary and justifiable bans on reproductive cloning in ways that will prevent research on helpful techniques of regenerative medicine that could have life-saving potential for victims of stroke, spinal injury, and several types of organ failure. When a new technology evokes important social and ethical concerns, as it has for reproductive cloning and as it may one day for genetic enhancement, then all elements of society must be engaged in educated discussion about the issues.
People must learn the appropriate scientific distinctions and understand both the potentials and pitfalls of a new technology or area of inquiry before they make decisions on how broadly or severely it should be regulated. Knowledge of the human genome has a tremendous potential to heal. This potential must be appropriately balanced against the possible negative consequences that this knowledge may also bring into focus.
CBSE supports student research in ethics through the CBSE Diversity Award in Genomic Science. In the winter of 2004, UCSC senior Alexis Rojas, a double major in biology and philosophy, applied the principle of autonomy that underlies the United States legal system to the question of whether technology that would prevent the expression of Huntington’s chorea must be used when it has the potential to save a life.
The eventual availability of human germline engineering (HGLE) for the treatment of Huntington’s chorea raises the question of whether prospective parents will then have an obligation to undergo the procedure. Huntington’s disease is a fatal genetic disorder characterized by progressive dementia and other neurological effects that typically begin in early adulthood. As the disease progresses, quality of life diminishes; a person loses the ability to make and act on choices. There is no known cure.
Rojas contends that parents have obligations to children and zygotes to do whatever is easily within their ability that will promote the autonomy of the adult the child or zygote will eventually become. With the development of modern HGLE, many potentially negative consequences have been solved. For example, it is now possible to apply germline treatment in a way that is not heritable for future generations. Assuming that the procedure is available, safe, and effective, Rojas concludes that parents would be morally obliged to undergo the treatment to prevent Huntington’s chorea in their offspring.