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This issue...
View from the Inside Scintimammography
This issue...
View from the Inside |
View from the InsideEthical, Legal, and Social Issues of Human Genome ResearchDan Drell talks about sticky legal and social issues of human genome research and what DOE's ELSI Program is doing about it.
ES News: Now that the genome has been sequenced and the media has applauded genome science, what's in store for your program? Drell: The scientific issues are well ahead of ethical, legal, and social issues (ELSI). ELSI issues are difficult in themselves, and even more difficult because they involve all communities, not just the scientific ones. There are challenges for the congressional branches, executive branches, the judicial branches, and the administrative branches. In fact, the issues are so pervasive that they involve every processpolitical and otherwiseto address them. ES News: What are the issues and what makes them so challenging? Drell: The societal concerns arising from the new genetics are, of course, privacy and fair use of genetic information, as well as the psychological effect of having personal genetic knowledge. Will people interpret the knowledge as an asset and basis for remedial action, or as a medical liability and hindrance to action? The uncertainties associated with gene tests for susceptibilities and complex conditions are another issue. No one has a "perfect" genomeevery one of us has genetic flaws. But you have to consider genes within their environments. All diseases have genetic underpinnings, but we know far less about what those contributions really are. The most dramatic illustration is that of identical twinsclones with identical DNA. One twin can come down with a condition like diabetes and the other never does. That tells us right away that there's more to it than genetics. In all diseases, there are genetic influences as well as non-genetic, and trying to parse out what the genetic influences arehow important they may beis extremely difficult. We do know that it's not simply genetics: it's genetics plus environment. ES News: The term "environment" is so encompassing. Can you define it more clearly? Drell: That's itall encompassing. It's a catch-all term meaning everything that's not clearly and easily genetic. It's the food you eat, your experiences with others who may communicate viruses, bacteria, and infections. It's even random chance. ES News: We've noticed that quite a few legal cases involving ELSI issues have already been filed. Drell: Yes, all of the issues are not new. The current legal cases are about privacy issues associated with medical information, which is still a controversial subject. Any insurance application you fill out now includes very little about your genetics because it's not cost effective yet for insurance companies to require that. But insurance applications do include a lot of family history as a surrogate to allow insurance companies to make an actuarial calculation. With genetic information, we'll simply be adding to the information in a medical file. But if a health maintenance organization is paying for the gene tests, its view is that it owns the information and it can use it to serve its corporate interests. That's an example of a very difficult question that comes up very quickly in this kind of work. ES News: Do you have concerns about all the speculation going on about what the completion of the human genome sequencing might mean for people? Drell: There is a real concern about a rising expectation on the part of the public that soon miracle drugs will suddenly cure everything that ails us. It's not going to be like that. In 1957, 44 years ago, it was learned that a single replacement of a single chemical, a hemoglobin molecule, was all that was different in those of us who function well and those who have sickle cell disease. Therapies today for that disease are not significantly different from what they were in 1957, so knowledge, in that case, has not led to better therapies or a cure for a very serious condition. In 1989, we learned that the deletion of three letters of the genetic sequence was the cause of cystic fibrosis, yet twelve years later therapies have improved only incrementally and only through the traditional trial and error method of medical research. We're challenged by the fact that there are more than a thousand other genetic mistakes that can underlie different cases of cystic fibrosis. It's far more complex than first thought. We have to understand that the conclusion of the first step of the human genome project is going to accelerate some very good things, but it is not suddenly going to bring all cures. ES News: What is your program doing to correct these kinds of misperceptions? Drell: The ELSI program has focused on research, education, and communication. Recently, we've been looking at complex conditions. The "simple" conditions, which have been studied longer, are those that have clear genetic roots. The type case is probably Huntington's disease, where if you have the altered version of the Huntington gene, you're going to get Huntington's. That's a relatively rare condition. In North Americans with caucasian backgrounds, cystic fibrosis is probably the most common of the straightforward genetic conditions. The complex traits, however, include some controversial societal aspects that, given the near completion of the sequencing, can't be ducked anymore. Since the genetics are in front of us, we are going to be pressed to describe in greater detail than we have until now, how important the genetics really are as contributors to some more troublesome societal issues. ES News: What are those? Drell: Addictions, for example. Alcoholism. Drug use. Some aren't conditions that are strictly "diseases." Some of them are behaviors: perhaps propensity towards aggression or homosexuality. There have been claims that there are genetic underpinnings for these behaviors and people have gotten very apprehensive. Therefore, we have to be very careful about how we approach these issues. ES News: How does the ELSI program help? Drell: We're doing two broad things. First, we're sponsoring research activities. In fact, we had an open solicitation through the end of March encouraging people to propose research activities; for example, what are the ethical, legal, and social implications that arise from having more genetic knowledge of complex conditions versus the "simpler" gene-based diseases? What are the aspects that make "complex" conditions harder to deal with? We've also focused on communication. One challenge is to translate the implications of genomics into every day English rather than in scientific English. There must also be a frank reality to our discussion of the issues. The scientists are needed to make sure science fiction does not get in the wayto give us a reality check, so to speak. We've prioritized our projects in order to reach high-impact audiences (those most likely to have responsibility for dealing with those affected by the issues). We've just come out with a CD for the medical community, available from Stanford University. This came about because we recognized that most of physicians finished medical school long enough ago that they don't know a whole lot about the genome project or the implications. For them, the implications are very serious because right now their patients are asking them questions like: "I may have an increased susceptibility. What does that mean?" A pregnant woman today is asking her obstetrician, "What's my baby going to be like? What can you tell me about his or her future?" These are huge issues for many people. With the advent of the genome project and more and more accurate genetic tests, the questions have a reality, urgency, and challenge for individuals, their families, and physicians. The physicians need to know more than they currently do. Over the last seven years we've targeted judges in our communication efforts. We've brought them together with scientists in workshops that explore some of the things we think courts are going to be dealing with in the future. With these workshops we've been saying, as gently as possible: "Here is some of the science that will be important and here are some of the scientists who are capable and willing to help you." We're not telling the judges what to think, we're not telling them how to decide anythingthat's their job, not oursbut we are telling them that there are resources available that they might wish to use. ES News: How have the judges reacted to this communication? Drell: Most judges were quite free about telling us that they are not prepared for such cases. As long ago as 1993, the Supreme Court decided, in Daubert vs. Merrill Dow Pharmaceutical, Inc., that it's up to the trial judge to decide what sort of scientific testimony gets heard and what doesn't; what's relevant or not. The judge becomes the "gatekeeper" in a court trial. And the judges are very honest about feeling unprepared for this responsibility. Two thousand judges out of 30,000 across the country have come to the seminars. We've tried to encourage high-impact judges to attend (those most likely to be called upon to rule on ethical issues). The whole effort is now snowballing as more and more judges are learning about it and realizing that it's in their best interest to be exposed to the issues. Especially since the O.J. Simpson trial, for example, they see some issues headed their way. We're very encouraged by that because we are acutely aware that we don't have the resources to train every judge in the country. We can get something started, but ultimately we are hoping others will help. With physicians, we can create a resource and encourage its use. At some point, however, deans of medical schools must become more aware of ELSI issues so they can influence the inclusion of ELSI discussions within the medical curriculum. And for that, NIH has to be involved since it is more closely connected to the medical community. ES News: What other "high-impact" groups have you targeted? Drell: High schools. We've developed curricula for high school biology classes and promote these models to high schools all over the country. We've produced booklets and we support the Human Genome Project Information website. ES News: How does DOE's ELSI program differ from the ELSI program at NIH? Drell: The NIH has a bigger program. It's a bigger agency and has more financial resources. They focus more on medical issues, which is entirely appropriate. ES News: Is there an interagency group working on ELSI issues? Drell: There has been in the past but presently there isn't one; however my relationship with the comparable staff at NIH is good and we talk all the time. Earlier this year we held a joint workshop"A Decade of ELSI Research." (See abstract availability in the Related Web Links.) ES News: Let's talk about your budget. Drell: The ELSI budget has always been 3% of the operating budget for the Human Genome Project. This year it's just a hair's breadth under $3 million. The aim of this office is to be the scouts like Lewis and Clark ahead of the major powers that then come in with the massive resources. I don't think ELSI is any different. We're trying to identify opportunities, do exploratory work, and stimulate the interest of others. And I think that's our proper role given our history and resources. ES News: Will the ELSI program lead the issues or will it follow the issues? Drell: I don't think there is a simple answer to that questionwhat we do will vary from issue to issue. We think we're at the leading edge in terms of clarifying some of the issues and revealing some of the implications for certain communities. But ethical, legal, and social issues are not challenges for bioethicists alone. Answers require the integration of bioethics and hard science. The bioethicists need to be grounded in scientific reality. You can only get that from the genome scientists. The genome scientists, in turn, have to be aware that consciousness of and attention to ELSI implications is important to them because it's important to the way they carry out their science and it's important to the end uses of the science. Ten years from now, the hard scientists should not say: "Oh, we were only doing the science; it wasn't up to us to be aware of how the science might end up getting used." We've been down that road. It's not the right way to go. The hard science side needs to be engaged in ELSI. And the scientists need the perspective of the bioethicists in order to do that. The scientists and the bioethicists have to work together. They have to be integrated in the beginning and stay integrated. That's not as easy as it sounds. Most bioethicists are not scientists: they're social scientists, lawyers, historians. We've had to build these bridges. People have to stretchand that's not always comfortable or easy. ES News: Is the ELSI program making an ethical difference? Drell: We're trying by focusing on communicationby explaining the genome, its language, and its issues. That's a do-able goal for us. It would be impossible for one program to set limits or to change long-held views. We can build bridges, encourage discussions, and provide scientific resources to improve knowledge and understanding. I think that's the best we can do right now. Related web links:
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