Genetic Information: Ethics, Privacy, and Security Issues
█ CONSTANCE K. STEIN
Genetic information refers to all of the known genetic data for all organisms, but it can also refer to the genetic make–up of one individual or one family. Initially, genetics was highly statistical and relied on the expression of particular characters in various family members to determine a pattern of inheritance and estimate risks of recurrence. However, the field has become much more complicated with the accumulation of data on over 10,000 genes that have been associated with human disease or phenotypic variation. It is now possible to identify individuals using genetic markers (DNA fingerprinting) and to predict with relative confidence that certain persons will have particular genetic diseases or features while others will be disease free. The data collected have improved diagnosis and treatment of some diseases, but this has also led to a series of ethical, privacy and security issues including concerns about what types of genetic testing are necessary, who should have access to the information after the testing is complete, and how that information should be used.
One of the great benefits of genetics has been the ability to uniquely identify individuals. In criminal cases, it is now possible to examine a crime scene specimen and directly connect it to a suspect. Molecular genetic technologies have also proven useful in the identification of human remains from plane crashes, the World Trade Center disaster, and a set of bones from the Tomb of the Unknown Soldier. Genetic identification has proven so robust that the United States Armed Forces now routinely maintains genetic profiles on all service personnel to facilitate identification. In addition, some metropolitan police units are offering DNA identity testing for children if the parents wish to have profiles of their children placed in a database in case of a future tragedy.
Whenever such genetic information is collected and stored, the issue of security becomes paramount. Databases must be very secure, and only authorized individuals should access the data, and then only with subject consent and when it's absolutely necessary. Password protection, restricted access, and encryption of data may be employed to assure confidentiality. It is also possible to set up a coding system whereby an individual's name is assigned a code, and the genetic results are only linked to the code number. The code and the key list must then be filed in separate secure locations.
Ethical considerations have also multiplied with the increase in genetics knowledge. Although it is now often possible to tell an individual that he or she will have a genetic disease, that person may not want to know that information. The primary concerns regarding genetic testing are both social and financial. Many people are frightened that a positive finding on a genetic test will result in discrimination and ostracism because they will be considered abnormal. There is also a very real concern that genetic test information may result in loss of or inability to get insurance or a job. Another issue is quality of life. If a test is done on a 20 year old who is then told that he or she will have a debilitating disease starting about the age of 45, how will that affect him or her psychologically? Regarding personal autonomy, should children be tested for late onset diseases or should testing be delayed until an individual is old enough to make his or her own decision about it? Because genetic diseases are typically inherited, identification of a disease causing mutation in one person may mean that other family members are at risk for the disease. Should genetic information be shared within families, and, if so, how should that be accomplished keeping an individual's autonomy in mind? Should prenatal genetic testing be done, and if a mutation for a deleterious disease is found, how should that pregnancy be handled? For serious diseases, should population-screening tests be mandated so that affected individuals are recognized and appropriate treatment can be rendered? Should population screening be done for all identifiable diseases or only those for which treatment is available?
At the present time, there is no one answer to any of these very difficult ethical questions. Each person must approach the problem in his or her own way. Most experts agree that a person's genetic information should be private, and that, following counseling to explain the reason for and consequences of the test in question, individuals should be allowed to chose when and which tests are done and with whom the results are shared. Only tests of proven reliability and significance should be performed, and results should be interpreted and utilized by trained personnel. Tests for late onset diseases are usually restricted to persons old enough to understand the ramifications of the assay and the disease. The number and type of population screening tests currently being done is limited and only involves those diseases for which some type of treatment is available. These principles continue to be tested as new genes are identified, and the use of genetic information becomes increasing important in diagnosis.
The next challenge is to keep all of the information collected confidential. A standard "release of medical information" will include the results of genetic tests as one element of the total package. Insurance companies frequently review a person's medical records before issuing a policy, but individuals with documented genetic disorders are considered high risks, and, so could be refused coverage. Employers may also decline to hire someone with a genetic "defect", fearing the employee may not be able to do the job. Alternatively, a genetic disease that does not affect a person's performance may still be a liability by increasing the health insurance premiums for everyone in the group policy. Recent new legislation has provided some protection against wholesale release of medical information, but this is not foolproof, and it is still possible for genetic data to get into the wrong hands. It has been suggested that some form of socialized medicine in the United States may be needed to give everyone equal protection and reduce the negative impact of a genetic diagnosis.
One final area of concern is research. Although the Human Genome Project has been completed, researchers are now attempting to isolate all of the genes present, determine their function, and identify mutations that lead to disease. Currently, individuals with rare diseases are recruited to participate in studies aimed at finding their disease gene, developing drugs to treat that disease, and testing those drugs for efficacy. In order to protect against the unauthorized use of patient samples or the release of sensitive genetic information, the United States Code of Federal Regulations has established guidelines that are overseen by the Office for Human Research Protection. All participants must sign an informed consent, and specimens must be either anonymized or a coding system must be set up so that subjects and their genetic results cannot be easily connected. As a result, research protocols tend to have a very high level of security for their data.
Education may be the single most helpful tool in alleviating the concerns that surround the storage and use of genetic information. As the public becomes more aware of genetic principles, misunderstandings and misuse are lessening. Genetic counseling and access to the Internet are proving to be extremely valuable methods of providing the needed pieces of information.
█ FURTHER READING:
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Gerard, S., M. Hayes, and M. A. Rothstein. "On the Edge of Tomorrow: Fitting Genomics Into Public Health Policy." Journal of Law, Medicine and Ethics no. 30 (3 Suppl) (2002): 173–176.
Jeffers, B. R. "Human Biological Materials in Research: Ethical Issues and the Role of Stewardship in Minimizing Research Risks." Advances in Nursing Science no. 24 (2) (2001): 32–46.
Khoury, M. J., L. L. McCabe, and E. R. B. McCabe. "Genomic Medicine: Population Screening in the Age of Genomic Medicine." The New England Journal of Medicine no. 348 (1) (2003): 50–58.
Nowlan, W."A Rational View of Insurance and Genetic Discrimination." Science no. 297 (5579) (2002): 195–196.
Rothenberg, K. H., S. F. Terry. "Before It's Too Late—Addressing Fear of Genetic Information." Science. no. 297(5579) (2002): 196–197.
The Office of Human Research Protection. U.S. Department of Health and Human Services. April 14, 2003 < http://ohrp.osophs.dhhs.gov .> (April 18, 2003).
Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000. < http://www.ncbi.nlm.nih.gov/omim/ > (April 18, 2003).