Concerns Mount over Privacy As Genetic Research Advances

Research in genetics has changed the way scientists view many disorders that befall patients. For example, investigators have taken giant steps in understanding the molecular basis of diseases such as cancer and cystic fibrosis. Genetic research also has radically revamped the understanding of afflictions--including manic-depression and obesity--that in the past were blamed on the infirmity and weak will of their sufferers. CONFIDENTIALITY CONSIDERED: Utah's Jeffrey Botkin, says his study on confidentiality in research points to "a definite need for discussion on how journals, investigators, and institutional review boards can develop consistent policies and practices that adequately protect the privacy of subjects in genetic research." Although genes now dominate many explanations of disease, more familiar units of human life--such as families and ethnic groups--play a major role in research. These two groups provide researchers with relatively uniform DNA samples, greatly streamlining searches for culprit genes. The growing trend to focus research efforts in genetics on various groups identifiable by ancestry has forced many investigators and research institutions to take a fresh look at standards and practices for assuring the confidentiality of research subjects. Jeffrey R. Botkin, a pediatrician at the University of Utah, recently completed a study examining methods and standards among investigators and journals in protecting the privacy and confidentially of families involved in research. The study, appearing in the June 10 edition of JAMA - The Journal of the American Medical Association, promises to stir debate and discussion among researchers and editors. Although Botkin could not discuss specifics of the study prior to publication, he did offer that it points to "a definite need for discussion on how journals, investigators, and institutional review boards can develop consistent policies and practices that adequately protect the privacy of subjects in genetic research." For the study, Botkin surveyed journal editors and researchers to assess their policies and practices with respect to confidentiality and privacy. While the identity of individuals is almost always withheld by investigators in reported results, pedigrees--standardized charts that display familial relationships and various phenotypes under consideration by a researcher--are published with many articles. "In research literature, there has been sensitivity about publishing identifying data, case descriptions, and photos for individuals for quite some time," Botkin explains. "But genetic studies offer particularly interesting and problematic sets of information: the pedigree." Even when individual family members are "anonymized," pedigrees can contain quite a bit of personal information on the genetic, medical, and reproductive histories of families. For example, when analyzed by a geneticist, a pedigree can reveal the mode of inheritance for a particular genotype under question. If an autosomal recessive gene is present in a family, the researcher can often conclude that a person is a carrier of the genotype even if the phenotype is not expressed. It also is possible that the identity of a family can be inferred from the chart, especially if the family structure is unusual or if a particularly rare disorder is being studied, according to Botkin. "It was my view then and now that I didn't want this information to get into the hands of the wrong people" -Janice Egeland "Pedigrees also can include histories of incest, misattributed parenthood, and abortion," Botkin says. "All of this sensitive information can show up here and the concern is that some people in society could decipher this information about you from medical literature. While employers and insurance companies typically don't read research literature and probably can't figure out the identity of subjects, some members of families can figure out identities." In his survey, Botkin also found that researchers are divided over the best way to modify pedigrees to assure confidentiality. Researchers use two common practices: masking, changing the pedigree so that it is obvious to the reader that information is being withheld; and altering, modifying the pedigree by omitting information in such a way that is not obvious to the reader. Botkin found that although most professional societies in human genetics have taken a stand against altering research data, it is occasionally practiced by some researchers because it can offer greater assurance of confidentiality. To investigators such as Janice A. Egeland , a professor of psychiatry and epidemiology at the University of Miami School of Medicine and a visiting professor of psychiatry at the University of Pennsylvania School of Medicine, assuring confidentiality not only has been important in published works, but has been a major concern in the day-to-day operations of the research center. For almost 40 years, Egeland has worked continuously with the Amish of Central Pennsylvania (S. Hoffert, The Scientist, 12[10]:1, May 11, 1998). She also has directed the Old Order Amish Affective Disorders Project at a University of Miami research office in Hershey, Pa., for more than 20 years. She coordinates a comprehensive clinical and genetic investigation that includes collaborators from the National Institute of Mental Health, Albert Einstein College of Medicine, Case Western Reserve University, Columbia University, Yale University, and the University of California, San Diego. Researchers from the project changed the way psychiatrists think of affective disorders when they discovered DNA markers conferring a strong predisposition to manic-depressive disease (J.A. Egeland et al., Nature, 325:783-87, 1987). Egeland's efforts to assure the confidentiality and privacy of Amish patients and their culture started when she was working on her Ph.D. at Yale in the 1960s. While working on her dissertation exploring the relationship between belief and health, Egeland had become impressed with the kindness and candor the Amish showed in welcoming her into the community and helping with the research project. In the course of her studies, little-known and commonly misunderstood traditions among the Amish, such as bundling, powwowing, and folk-medicine practices, were revealed to her in some detail. "There was significant encouragement from my colleagues to publish the dissertation," Egeland recalls. "Prior to my study, little was known about health and health care practices among the Amish. The view of many was that these people were a medical gold mine." While many freshly minted Ph.D.'s would jump at the opportunity to publish their dissertation, Egeland went in the opposite direction. She decided to put the study on reserve at Yale and required researchers to submit letters explaining their need to see the study. "It was my view then and now that I didn't want this information to get into the hands of the wrong people," Egeland says. "The Amish had given me their trust and I wanted to protect them from the prying eyes of the outside world. In the popular press, their culture tends to be sensationalized. As a researcher, I had to take some responsibility for respecting their privacy as patients and a society." Egeland's concern for protecting the confidentiality of patients and respecting the Amish culture has dominated how research is conducted at the Hershey project center. For example, with increasing frequency, she has had requests from outside investigators to help ease the collection of specimens among the Amish. While her duties as principal investigator on the affective disorders project limit her ability to sponsor these studies, she is most concerned about how some proposals and requests show a lack of respect for the Amish culture and their values. "I am just amazed and shocked by some of the requests I get," Egeland says. "Some researchers seem to be willing to go around accepted practices of informed consent when obtaining samples. Others make little effort to make sure that their research does not conflict with the culture and moral sensibilities of the Amish. It's come to the point where I don't have time to consider any work with investigators outside my network." It's no wonder that the possibility of patenting genes provokes a strong reaction from the public, scientists, and companies. Researchers fear that the transformation of genes into private property could slow progress in science. Many companies take the opposite view and argue that without patents, there is little incentive to invest enormous amounts of money into this kind of research. Meanwhile, some groups frequented by researchers fear that some day they will have to pay a high price for diagnostic tests and treatments that their genetic heritage made possible. While these issues continue to inspire charged debate in the United States and much of the world, a researcher in Iceland quietly has figured out a way to share the rewards of science with research subjects. In 1997, Kari Stefansson, a native of Iceland and a geneticist formerly at Harvard University, founded deCODE Genetics Inc., in Reykjavik (www.decode.is). In hopes of making Iceland's greatest natural resource--its genes--available to scientists throughout the world, the company, which now employs more than 200, is in the process of gathering clinical records, DNA, and family histories for most of the nation's 270,000 people. The people of Iceland are a unique find for researchers in genetics. They descend from Vikings who settled the desolate island more than 1,100 years ago. This isolation has made present-day Icelanders a genetically homogenous group. Moreover, several cataclysmic events on the island produced what Stefansson calls "genetic bottlenecks." In the 1400s, bubonic plague cut the population from about 70,000 to 25,000. During the 18th century, the population plummeted below 50,000 three times because of disease and famine. Research at deCODE already has led to the discovery of the location of the familial essential tremor gene to chromosome 13. The disease is characterized by shakiness of the hands and arms and affects 5 percent to 10 percent of the elderly population of Iceland. Currently, brain surgery and electrode implantation are the only available treatments. But deCODE's most impressive achievement to date is its research agreement with Hoffmann-LaRoche Ltd., Basel, Switzerland, in February. The partnership could bring deCODE more than $200 million in the next five years. As part of the agreement, Hoffmann-LaRoche will hold exclusive rights to any drugs or diagnostic devices developed from the research. However, they will have to provide these products to Icelanders free of charge. "In all of our negotiations with corporations we have emphasized that if any discovery is made based on our work, then the benefits of that discovery must come free to the Icelandic population," Stefansson says. "While this research collaboration has great monetary value, it has great symbolic value. It is that a big pharmaceutical company will recognize the contribution of people participating in a study. I don't know of any company that has ever done this." Stefansson says public support of deCODE has flourished in Iceland and no concerns over exploitation have been voiced. The company has had 99 percent participation rates in studies and was voted in May the most popular company in Iceland by newspaper readers, he notes. "We have had this enormous support here because we are an Icelandic company bringing new technology and jobs to the nation," Stefansson continues. "We have laid a very firm foundation for the growth of the biotechnology industry in Iceland; and in many ways, people look at our company as the answer to exploitation of marginal populations in scientific research." --SPH Concern over the potential of genetic research to stigmatize groups of research subjects also has stimulated the search for ways to supplement the process of informed consent. Since the 1960s, individual informed consent has served as the cornerstone of research practices designed to protect human subjects. But Morris W. Foster, an associate professor of anthropology at the University of Oklahoma, argues that advances in genetic technology have made it necessary for researchers to engage whole communities in discussion about research plans. Because genetic research can be misused, community discourse is needed to assure that individuals can make truly informed decisions. "In publishing their results, researchers routinely identify research participants by ethnicity and geographic origin and open them up to stigmatization and adverse perceptions from society," Foster says. "To be sure, scientific information itself is not the source of this problem. But the reality is that lay people can use this information in ways that can hurt research subjects. This fact extends the ethical obligations of researchers." Although Foster does not suggest using communal discourse as a replacement for individual consent, he says discourse with the community is essential to assure that people can make informed decisions about participating in research. Frequently, in research involving Native American communities, Foster says it is necessary to engage extended families and even whole tribes in discussion about ramifications from scientific investigation. Public meetings were initiated during which researchers sought out representatives from various social units. When specific concerns about the research project were raised, further discussion of research plans was needed, and terms of the project were renegotiated. Botkin agrees that community discourse often is required for subjects to make informed decisions. But he adds that where stigmatization is a concern, researchers might consider not identifying research subjects as members of a particular group. "While the issue would have to be considered on a case by case basis, I don't have any problem withholding information that identifies the research subjects as members of any social group when the information is not relevant to the results," Botkin says. But he is quick to note that deciding relevance is difficult even if research subjects face possible disgrace. Some discussions among researchers in the field have focused on how investigators with a bona fide need to know the identity of groups studied can obtain this information if it doesn't appear in the original publication. Just how this information could be made available to investigators is uncertain, according to Botkin: "Journals have been clear that they don't want to take on this function. But I can envision something like the Negative Clinical Trials eventually serving this purpose in genetic research."

Concerns Mount over Privacy As Genetic Research Advances

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