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Editor's Note
The US Congress and the public in general bankrolled the Human Genome Project largely on the promise that it would lead to revolution in the treatment of disease. The years since its inception have been full of controversy about ethical and practical issues surrounding the use of that data.
| Ethical and practical issues surround the use of human genome data. |
Now that we have a more or less complete human genome sequence, will the policy makers and regulators let scientists use this knowledge freely? Or will there be restrictions that significantly hamper applied and even basic research in this area? The crystal ball is somewhat cloudy, but the best guess is that restrictions will be minor and relatively easy for researchers to live with. We've been using genetic information long enough, it appears, for some people to have worked out the policy details well enough to satisfy the public.
"I think there will occasionally be some problems," says Alan McGowan, president and codirector of the Gene Media Forum and a member of the Public Communications faculty at Syracuse University. Yet he doesn't see major problems as truly likely (although he warns this could shift at any time). McGowan notes that a poll by the Los Angeles Times showed that only 14% of the public feels it really understands any part of biotechnology. "Science Indicators" from the US National Science Foundation puts the number at 17%. This means that the public is easily swayed by the latest news, whether it is good or bad. It also means that because the public puts all of biotechnology into the same basket, news or arguments about, for example, embryonic stem cell research may influence attitudes toward genetic research as well.
| Public opinion is easily swayed. |
Dorothy Wertz, senior scientist in the Department of Social Science, Ethics, and Law at the Eunice Kennedy Shriver Center in Boston, makes somewhat the same point. People are currently afraid to enroll in gene therapy trials, she says, because a single untoward event - the death of Jesse Gelsinger - triggered an underlying fear of anything labeled "genetic." Yet, she continues, "If you get a great positive event, a real success of a genetically based therapy, public opinion would turn around very quickly."
"People I have spoken to say privacy is probably the most serious concern," McGowan says, "and the one that they don't see can be alleviated that easily." In 1997, Wertz and John C. Fletcher conducted a survey of genetics professionals in 37 countries, and concluded that "around the world, nobody trusts insurance companies or employers."
| Privacy is probably the most serious concern. |
Almost everyone surveyed, including the US primary care physicians, patients, and members of the general public included in a supplemental survey agreed that neither employers nor insurance companies should have access to a person's genetic information without his or her consent; and a majority would block access even with consent. On the other hand, she suggested that, "Once privacy leaves the areas of employment and insurance . . . patients appeared surprisingly unconcerned about many threats to privacy."
Indeed, she notes, many people seem quite unaware of just how much information about them is readily available - a point underscored by McGowan's anecdote of a researcher who was offered the names of every person in the US with a specific disease, at a price of $30 per name. This leads Wertz to say, "In this context of overall lack of awareness of threats to privacy, it seems somewhat ridiculous to single out DNA for special treatment under the law."
| Emphasize the normalization of genetic information. |
Bartha Knoppers, professor of law at the University of Montreal and head of the international Human Genome Organisation's Ethics Committee, makes very much the same point. "I think the protection of medical information is exactly where we should be putting our emphasis," she says, "and not on the creation of specific rules just for genetic information." She looks forward to the "normalization, integration, and de-stigmatization of genetic information," as has happened for cancer and is currently happening for mental illness. Special rules would block this, while a general tightening up of regulations governing access to and use of medical information for research purposes would not.
Knoppers, however, notes one major exception to her call for stricter regulation of access to medical information for research purposes: public health research, including surveillance, epidemiology, and studies of disease incidence and prevalence. This exception would presumably include studies of allele frequencies in populations. If public health research continues to be dragged through "the very narrow ethical-legal filter of medical research," she says, "we're going to lose a tool that the state needs for the protection and promotion of health for all citizens." As she notes, states and countries need such basic health data to rationalize spending on programs such as vaccinations or even to plan targeted health programs.
| Privacy concerns are reduced in public health research. |
One factor that makes public health research different, of course, is that the population, rather than the individual, is the target. This means that truly anonymous data - data where there is from the beginning no link to any individual - provides all the information that may be needed. Thus, privacy concerns are inherently reduced.
Wertz also foresees an integration of genetic information into normal medical practice. Even today, she notes, a physician administering human growth hormone for short stature is unlikely to mention its recombinant DNA origin. It's simply growth hormone. Similarly, people rarely think of tests for cancer markers as "genetic" tests.
| The distinction between genetic and nongenetic tests may disappear. |
On the other hand, the ethics committee of the European Society of Human Genetics wants to define every test for a condition with a genetic component - which means essentially every test, including those for cholesterol levels - as a genetic test. But this may ultimately come to the same thing: If every medical test is a genetic test, then the distinction between genetic and nongenetic tests disappears.
The Icelandic Health Sector Database provides an interesting example of how these concerns are likely to play out in practice. In December 1998, the Icelandic parliament authorized establishment of a database that will include the medical records of all Icelanders who do not specifically opt out of the system. All personal identification in the records is encrypted, with the key held solely by the government's Data Protection Commission (DPC). That is to say, only the DPC can identify the individual who corresponds to any given health record. Despite this, the database has been controversial from the start, not only because of privacy concerns but also because it grants a commercial firm, deCODE Genetics, the exclusive right to operate the database and to use it for research purposes over a 12-year period.
| In Iceland, an ancient database informs a modern one. |
The usefulness of the database for research derives from its linkage to two other databases. One is the Book of Icelanders, the public genealogical record of every Icelandic citizen; this makes it possible to tell which records belong to the parents, children, and cousins of a given case. The other is a genotypic database established by deCODE.
Since deCODE has no way to identify any specific individual, all communication must pass through the DPC. So if deCODE wishes to study genetic risk factors for a disease such as osteoporosis, it starts - much as traditional genetic researchers have always done - by identifying interesting familial clusters of the disease. (Actually, since the Health Sector Database is not yet fully operational, it is currently the DPC that provides the diagnostic information.)
| Only the DPC can identify the individual who corresponds to any given health record. |
deCODE then contacts the DPC and asks that it contact the physicians of people whose genotypes would be informative and ask them to pass along a request for those individuals, after they give their informed consent, to come to a special center and donate blood for genotyping. If they choose to do so, the DPC immediately encodes the samples with the same encrypted key used for the individuals' health records.
Thereafter, only the DPC can tie the genotype to the individual. deCODE, however, has the linkages it needs to do a standard genetic analysis and determine whether variations in any gene or chromosomal region correlate with the presence or absence of disease.
| Although cumbersome, the system protects individual privacy. |
The system is clearly more cumbersome than researchers would wish. Nevertheless, even while protecting individual privacy, it allows research to proceed without serious impediment. Indeed, deCODE has already made significant genetic discoveries in the areas of preeclampsia, stroke, schizophrenia, osteoporosis, peripheral arterial disease, Parkinson's disease, and hip osteoarthritis, as well as providing interesting insights into the origins of the Icelandic population.
No one knows for sure what the future will bring, especially with the public poorly informed and opinions volatile. But it seems plausible that the future will look very much like the Icelandic Health Sector Database.
W.A. Thomasson, originally trained as a biochemist, turned to science and medical writing 20 years ago. Since then he has written on everything from air motors to the effect of welfare reform on Medicaid.
Andrzej Krauze is an illustrator, poster maker, cartoonist, and painter who illustrates regularly for HMS Beagle, The Guardian, The Sunday Telegraph, Bookseller, and New Statesman.
The Human Genome - this special issue of February 16, 2001 from Science magazine, is freely available online.
Genetics Scandal Inflames Iceland and Iceland's Public Supports Database, But Scientists Object - discuss the controversies surrounding the Icelandic Health Sector Database. From Wired and The Scientist, respectively.
Public Health Genetics Unit - includes many online resources covering issues in the UK and the US.
Genetics Privacy and Legislation - discusses current and future policies in the US. From Ethical, Legal, and Social Issues of the Human Genome Project.
Case at VCU Brings Ethics to the Forefront - highlights one conflict between genetic research and privacy in an academic research setting and its ramifications for researchers. From the May 1, 2000 issue of The Scientist.
HumGen - a well-organized set of tools for finding online resources related to genetic ethical issues, policies, and legislation.
UK genetic testing and insurance decision provokes mixed response - a news article about genetic testing by insurance companies. From Trends in Molecular Medicine, 2001, 7:1:4-5. Full text available from BioMedNet.
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