Ari Patrinos, associate director for biological and environmental research at the Department of Energy (DOE)--and overseer of DOE's role in the Human Genome Project--can identify with fears of genetic discrimination. Patrinos revealed at the 16 to 18 January 2001 conference "A Decade of ELSI Research" that he himself has been a target of health discrimination.
Patrinos told a personal story of being denied health insurance when he was between jobs in the early 1980s. His application for health insurance to cover this in-between period was denied based on his medical history, even though he was not sick at that time. Being denied, Patrinos said, "changed me in profound ways." Fortunately, his story has a happy ending, and he received health insurance from his new employer 2 weeks later. But what will the victims--actual or potential--of genetic diseases have to contend with now that the causes of many such diseases are being pinpointed to specific mutations in specific genes?
Patrinos joined over 400 of his colleagues from fields as diverse as philosophy, nursing, law, medicine, economics, history, and anthropology at the National Institutes of Health (NIH) in Bethesda, Maryland, last week to discuss tough ethical issues like this one at the ELSI conference.
Since 1990, when the ELSI project began, researchers, medical practitioners, and lay advocates have been systematically exploring the ethical, legal, and social implications (ELSI) surrounding the Human Genome Project. Like the Human Genome Project, the ELSI program is funded by both NIH and DOE. And according to an ELSI report released by NIH and DOE in February 2000, more than $76 million have been spent on ELSI projects over the last 10 years.
The issue areas funded by ELSI (see sidebar) and discussed at the ELSI conference touch on the big picture of genomic research--the far-reaching implications of the scientific work at the bench. From the patient's perspective, for instance, how might knowledge of a genetic predisposition toward a specific disease affect his or her thinking? What are that patient's obligations, if any, to relatives who may also share a risk for developing the disease? And what about researchers? The ethical implications of genomic data do not only affect the public--researchers and medical professionals, too, face ethical predicaments stemming from genomic information. For example, how should genetic information be handled? How can a researcher obtain "informed" consent if she wishes to build up a tissue or blood sample bank that will be used for future, as-yet-unspecified experiments?
ELSI's Four Program Areas Privacy and Fair Use Clinical Integration Genetic Research Education and Resources
Privacy and Fair Use
Education and Resources
So, what does the future hold for ELSI--the program and the issues? Although quick to emphasize that he was not detailing an official policy position for his institute, Francis Collins, director of the National Human Genome Research Institute (NHGRI), did venture a few guesses as to what the major issues might be in the coming years. Although genomic medicine promises to hold enormous benefits for mankind, Collins feels certain that there will continue to be concerns over access and intellectual property rights to genetic data. And, as germline manipulations become a reality, Collins hopes there will be vigorous debate about the "deeply disturbing" possibility that "humans [might] take charge of their own evolution."
Another of the founders of the ELSI program, Eric Juengst, a philosopher at the Center for Biomedical Ethics at Case Western Reserve University in Cleveland, Ohio, had a few practical suggestions for the ELSI community as it moves forward. He recognized the need to "expand the perspective" of ELSI research to other parts of the world. And--in an enthusiastically received proposal--he suggested that ELSI launch a newsletter, or perhaps even a journal, devoted to issues that would unite ELSI researchers hailing from many different departments and disciplines. Finally, Juengst noted that training the next generation of researchers will be key.
This sentiment was echoed in comments made by the audience during the "Town Meeting" session immediately following Juengst's presentation. One researcher lamented the absence of training programs, describing his own experience when proposing an ELSI component to his research--his committee rolled their eyes and gave him "glazed looks." He felt that a training program would help ELSI get over a "legitimacy hurdle." Whereas postdoctoral researchers may be funded through ELSI fellowships, Elizabeth Thomson, ELSI research program director at NHGRI, said that there are currently no plans to offer training grants in ELSI topics.
Thompson cited some practical reasons for this. Although the ELSI program's greatest strength may be in its interdisciplinary nature, the diversity of its proponents and their research interests make it difficult to determine where to establish such a training program because they tend to be dispersed across campuses.
Curiously, no mention was made of the federal regulations issued last month requiring that all Public Health Service-funded researchers be trained in ethics (see the Next Wave story New Federal Regulations Issued on Ethics Training). Implementation of these new rules in the form of classes and discussions, while not a substitute for an ELSI Ph.D. training program, may prompt scientists to consider the implications of their work, regardless of its relevance to the Human Genome Project and genome science.
So, what's the bottom line? Granted, there's no magic spell that will solve all the ethical riddles that perplex ELSI and genome researchers. But a dialog has begun--an important dialog on how to wield the new-found genetic power following from the Human Genome Project. And new policies and legislation are being drafted and implemented with a view toward preventing misuse of genetic information. Hopefully, these ongoing steps will eventually outlaw genetic discrimination and the chance that anyone will be denied health coverage simply on the basis of the sequence of their DNA.