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Goal: Educate everyone on impact of technology
Two deaf parents want to conceive, and they have come to your hospital’s prenatal diag nosis clinic asking that their pre-implantation embryos be screened to maximize the chance they will have a deaf child.
The physician and genetic counselor have come to the ethics committee seeking guidance. How should the committee respond? What process should it go through in making policy regarding the availability of genetic testing?
The above scenario and resulting questions were just one of many case studies posed to a group of hospital ethics committee members and institutional review boards in a unique retreat held in Vermont in June 1999.
The goal of the meeting, part of Vermont’s three-year, federally funded Community Ethics and Genetics Project, was to impart a better understanding of the advances in genetic information and technology available to medical science and to highlight the ethical issues such advances are raising.
The retreat offered no easy answers.
"It was more of a collaborative effort," explains Edward Mahoney, PhD, co-director of the project and the associate dean of academic integrity, faith/spiritual journey, and the intellectual life at St. Michael’s College in Colchester, VT. "What we really want people to do is to work together on fashioning and describing clearly what the ethical issues are and what the various perspectives and approaches might be, then to come to a resolution on some of those thorny questions. That is what we tried to do with the case studies."
Funded through federal program
Although the hard data from the national Human Genome Project may not have many practical applications for some time, the ethical, legal, and social issues (ELSI) of new genetic technologies have long been a priority with the government scientists organizing the study.
Since its inception in 1990, 3% to 5% of all funds dedicated to the project from both of its governing bodies, the U.S. Department of Energy and the National Institutes of Health, have been dedicated to supporting studies of the myriad ELSI implications this information will have for society.
One of the key goals of the ELSI program is to foster involvement of all segments of society in making decisions about how genetic technology should — and should not — be used.
"We received a grant under the project’s ELSI program to develop a community-based educational program," says David Yandell, MD, the project’s principal investigator and head of the Vermont Cancer Center at the Univer sity of Vermont in Burling ton. "We wanted to both educate the community as a whole about genetic technology and the issues involved and get broad-based input on how these issues should be dealt with."
So far, the project has sponsored about 10 retreats with different professional groups to discuss genetic technology and information. For example, one retreat was for members of the clergy, while another comprised elected representatives and policy-makers, and a third consisted of physicians and other health care professionals. Each group had about 40 participants and met for a 1½ to 2 days.
"When you consider the population of the state of Vermont is only about 600,000, that amounts to a significant number of people attending one of the sessions," Yandell says.
In addition to the retreats, the project also is sponsoring an ongoing discussion group and 10 more community forums. Over the course of three years, the project also will establish an informational Web site, publish a monthly newsletter, circulate a resource directory of individuals and institutions, and design methods to continue to share information.
Each retreat has the same basic format, he says. The selected group views several presentations about genetics: "What it is, where it has been, and where we are now." Then, representatives of families who have been affected by genetic testing in some way or who have a child or family member with a genetically linked condition are invited to speak to the group about their concerns. Finally, case studies targeted to each group of people are presented and discussed.
After the retreat, participants complete follow-up questionnaires and the results are compiled for further study. The goal of the grant is for Vermont to develop a nationally replicable model for education and discussion of genetic issues in a community setting, and to encourage community input into societal decisions about access to and use of genetic information, Yandell adds.
At the close of the three-year study, the project will publish a report on its findings as well as a manual describing and evaluating each of the project’s components for use by others considering similar programs in their communities.
The retreats themselves are designed to encourage people in professions directly affected by biogenetics to learn how the Human Genome Project will affect them and work together in developing strategies across the state and country.
Although all of the groups have listed the same main concerns with managing genetic information, each group lists different issues as main priorities, says Mahoney. "The physicians were most concerned about education: educating physicians and primary care health providers and then helping them educate their patients.
"For mental health professionals and social workers, their primary concern was confidentiality of the medical record. Each group was concerned with similar issues, but it was interesting to see how they stressed one area over another," he explains.
Asking the difficult questions
For ethics committees and institutional review boards, the questions were more specific: What happens when, in the process of doing a genetic study for one condition, additional information is gleaned? Who has access to that information? If you find something in a study that you were not looking for, do you notify the patient? What kinds of information do you give to the patient in the first place? What constitutes adequate informed consent?
"For hospital ethics committees, there are a variety of clinical issues that may occur," Mahoney says.
"For example, a daughter realizes she has inherited a genetic marker [for breast cancer risk] and she wants to know where it came from — her mother or her father. Her mother does not want to be tested, but the father does. What should you do? Do you test the father? It may be that testing the father could reveal that the mother is a carrier, but it could be a question of nonpaternity. The mother could have many different reasons for not being tested."
One of the most helpful segments of the retreat for the ethics professionals featured presentations by family members, Mahoney says.
"I think the perspectives of the family members of those patients varies, both their experiences as well as how they feel about what happened to them," he says, "what has happened to their children and the kinds of support they have received or not received, and the issues they face day-to-day, and the pressure it puts on them," he says. "That is one of the most powerful parts of the retreat."
Follow-up is important
At the end of each seminar, the participants were asked a series of questions designed to gauge how their personal knowledge of genetics and the ELSI issues involved has changed, says Mahoney.
"We have a couple of sessions early on, where we ask the participants what they see as the primary issues and concerns," he says. "At the end, we talk about that: What are the issues that have emerged through the discussions and presentations? As professionals, what impact will this have on their profession and how will they apply what they have learned at the retreat?"
The leaders of the project say they hope this information, gleaned from retreat participants, will not only benefit Vermont, but the rest of the country as well.
• David Yandell, MD, Director, Vermont Cancer Center, University of Vermont, Burlington, VT 05405.
• Edward Mahoney, PhD, Associate Dean Academic Integrity, Faith/Spiritual Journey and the Intellectual Life, St. Michael’s College, Winooski Park, Colchester, VT 05439.