What is genetic screening?
Health care is becoming more and more of a concern today as the profession is constantly creating new procedures and what we hope are better ways to administer care. How would things be, though, if patients could be told beforehand what diseases they are likely to contract in the future? This is where genetic screening comes into play.
Genetic screening is the ability to examine the genetic code for possible defects and the consequences thereof. What is a genetic disease? Professor Kare Berg of the University of Oslo describes genetic diseases as "…(including) diseases caused by a mutant gene at a single locus (Mendelian diseases), disorders caused by numerical or structural chromosomal anomalies, and diseases or malformations caused by the action of several genes or by interaction between genes and environmental factors" (1996). How can we test for these defects? Most often, a simple blood test can supply enough DNA to perform a thorough examination.
Researchers are also developing new ways to test the genes of the unborn. For example, a new test in Korea extracts eggs from the mother and brings them to maturity. The eggs are then fertilized with the husband’s sperm and allowed to divide once or twice. A cell is then removed from each group and tested for known genetic diseases.
University of California at San Francisco professor Yuet Wai Kan has developed a way to test an unborn baby’s blood without the use of amniocentesis. A blood sample is taken from the mother and immature red blood cells from the fetus are separated. Kan’s team can then run tests on these immature red blood cells. The procedure is said to be tedious but does not require expensive equipment or the costly time of an obstetrician, not to mention the pain that can accompany amniocentesis.
Social, Economic, and Moral Issues
Science is constantly seeking new uses for what we learn from genetics. Not everyone, however, is in favor of such findings. There are many things to consider as we put what we learn about genetics out for the world to see. How and when are these tests to be performed? Should they be performed? Who has the right to see the results of these tests? Who has the right to suggest such testing?
Genetic tests and their results can have serious consequences on the lives of people tested and those who surround them. For instance, if employers know of an applicant who is susceptible to a deadly disease, they could most likely refrain from hiring the individual and save themselves trouble down the road. Other issues to look at include insurance. Does it seem fair to charge higher premiums to someone who has the potential to contract a life-threatening illness? These are issues to consider when having genes tested. Health insurance, privacy, and employment opportunity may be put into jeopardy at the expense of a genetic test. It is because of this fear that many individuals who may benefit from genetic testing are not undergoing the testing. These are issues that the government has been looking at.
The state of North Carolina passed a law in 1975 prohibiting employer discrimination against those carrying sickle-cell or hemoglobin C. In 1989, Oregon added "genetic screening" to a list of tests employers were barred from asking of their employees. The state did, however, fail to include a suitable definition of "genetic screening" in the law. Wisconsin passed a law prohibiting employer access to genetic test results in 1991. Even the federal government is getting into the act. In 1996, Congress passed a law making it illegal for employers to deny health insurance due to medical risks, even genetic risks. The fact that these laws are being passed suggest to us that there is a tendency towards respecting the privacy of the patient. However, the state of New York has passed a law allowing a required genetic test if the employees tasks include facing conditions which may be considered risky for individuals with certain genetic "defects." The law officially states that the employer may "…require a specified genetic test as a condition of employment where such a test is shown to be directly related to the occupational environment, such that the employee or applicant with a particular genetic anomaly might be at an increased risk of disease as a result of working in said environment" (Rothenberg, 1997). Some would argue that if environmental conditions could be detrimental, then the employer should clean up the work area rather than analyze their employee's genes.
Despite the fact that many states require informed consent for genetic testing, they sometimes fail to state that the test results may be revealed to certain sources without the patient’s knowledge. Once again, conditions such as these can very well contribute to the fear of lack of privacy when dealing with genetic screening.
We may also address the question of for whom and why tests should be conducted. The Chairman of Medical Genetics at the University of Oslo, Kare Berg, says that early detection means the possibility of preventive measures. For example, if someone tests positive for the likely onset of artherosclerosis, a low fat diet and exercise can be suggested. This may drastically reduce the chances that the individual will contract artherosclerosis and may add years to a patient’s life. Berg suggests that testing should only be done on a voluntary basis, fully informed, and under complete confidentiality. The results of genetic testing have the potential to cause great anxiety, and some would argue that they have a right "not to know." Berg suggests that this is satisfactory if only the person at risk is affected. More often than not, though, this is not the case. Diseases commonly affect those surrounding the individual as well. If a son or daughter has a genetic defect, chances are great that siblings could have the same defect ( or at least be carriers). Siblings should then be told of potential risks. In fact, Beg states "not informing them would mean taking away the possibility of making of making a choice that had been available to the person in whom the condition was originally diagnosed" (1996).
Cystic fibrosis is another genetic disease being tested for. The National Institutes of Health recommended that testing for cystic fibrosis be offered to couples trying to have children. The recommendation was that insurance cover the cost of testing. The question still remains as to whether or not health insurance will cover education and counseling.
While industry has been busy marketing clinical genetic tests, it has also begun to lean towards the sale of home genetic tests. Myriad Genetics Inc. of Salt Lake City has offered BRCAnalysis, a kit which tests for mutations to the BRCA1 and BRCA2 genes. These genes, if mutated, are often associated with breast cancer and ovarian cancer. As convenient as this may seem, many genetic circles are suggesting that interpretations of the test’s results may prove troublesome. The American College of Medical Genetics recommends that the test be used only in research until the accuracy and validity of the test can be proved. The Task Force on Genetic Testing (TFGT) is suggesting that the federal government create a committee to monitor the quality and validity of all genetic tests, not just that offered by Myriad Genetics. Even investors in the company are worried. Reijer Lenstra of Smith Barney says "There are concerns about what the test means and who should be getting it" (Marshall, 1997).
These occurrences suggest that genetic testing is still under a cloud. That cloud will not be lifted until people are educated as to the results and measures are taken to protect those who take the tests. Fear is evident in the fact that less than half of women offered the BRCA test in 1996 at Georgetown University and Pennsylvania University agreed to take the test.
To further complicate matters, researchers are still questioning the extent to which certain genes can be held responsible for certain diseases. For example, when researchers first identified the BRCA1 and BRCA2 genes as being linked to breast and ovarian cancer, many women with a family history of breast cancer rushed to be tested. Many of those testing positive underwent prophylactic mastectomies. The New England Journal of Medicine, however, later stated that the genes may not be as responsible as once thought. The Journal did state that having both breasts and ovaries removed may very well add years to a woman’s life.
New findings are constantly changing people’s views and, as a result, the actions they choose to take. When dealing with breast cancer, the new discoveries, and statistics that follow, former director of the National Institutes of Health states that research into breast cancer genetics "is in danger of being overwhelmed by a flood of information on odds-making and fortune-telling that is affecting the care of individual patients" (Seppa, 1997).
We are just beginning to realize the power that genetics has over our lives. With the knowledge we gain comes great responsibility. Catherine Sack states in an editorial in The New Republic, "I wonder if this kind of technology will reduce our lives to premeditated attempts to avoid our genetically programmed demise" (1997). In Sack’s editorial, she states that the genetic disease(s) that one finds he o she carries will most likely lead to their end. Based on this thinking, she later states, "I wonder whether taking some of the mystery out of death will take some of the beauty out of life" (1997).
Personal Thoughts
When I first began gathering information for this paper, I intended it to be against the concept of genetic screening. After reading the articles and hearing the arguments, I must admit that I have somewhat changed my view.
I originally believed that we simply need to play with the hand that we are dealt. If I were to have, say, Huntington’s disease, it is true that I would someday deteriorate and I would simply have to spend what little time I do have with the disease. It may be tough but that’s all I can do. However, we do have the abilities to detect potential problems and take appropriate action. Preventive measures can work wonders in certain cases.
My biggest argument for favoring genetic screening is this: I can not in good conscience keep people from knowing about themselves. If someone were told that they have the potential to develop Huntington’s disease, it may seem hopeless because we don’t have a cure. However, the information itself can still prove useful. Someone with Huntington’s may then choose not to procreate because they may pass away in the process of raising said child, and the disease itself may be passed on to the child. If someone has the potential for heart disease, exercise and proper diet may prolong their life. the knowledge of these conditions and preventive measures can prove invaluable to someone. I can not in good conscience keep information away from people which may prolong life or improve quality of living.
Many could make the argument that it is unethical for us to dabble into the genetic realm like this. I fail to understand how one knowing about their own genetic makeup could be considered unethical. It is true that the results of genetic screening may cause great personal anxiety for some, but taking away the right to know about how their own body functions seem like a no-win situation.
Some ideas I read seem very strange, but somehow possible. Rober Vermeulen says that if a woman is over 35, she can have amniocentesis performed and if genetic defects are detected, she can abort. He then asks if the same will be done for criminal tendencies and mental imbalances. Vermeulen refers to this as the "get-pregnant-then-test-then-abort" effect (1997). I thought it was interesting that Vermeulen suggests parents can examine a number of eggs from the mother and choose to fertilize the "best" one. This may sound a bit "choosy" on the part of parents, but I think this is unique in that no genes are altered or deleted. We would still be using the father’s sperm and the mother’s egg with no outside forces changing things. Vermeulen suggests that a procedure such as this could cut down on the number of late-term abortions. I can not honestly say I would undergo such a procedure, but I thought it was an interesting way to look into the future.
I do see some drawbacks. While reading an article in Science News, it was stated that a woman in danger of breast cancer who has both breasts removed at age thirty may add 2.9 to 5.3 years to her life (Seppa, 1997). Similar statistics led me to ask if it is worth it. Having both breasts and ovaries removed by age thirty seems to be an overly mutilating procedure just to add a few years to one’s life. This simply points to the fact that genetic testing has a long way to go. We still need to determine what test results mean and what our future is going to look like given the genes we have. A great deal of this must include public education. When society knows precious little about genetics, it only makes it harder for science to discuss its findings and ease public tension.
Works Cited
Berg, Kare. "Ethical aspects of early diagnosis of genetic diseases." World Health. No. 5, pp. 20-1. September-October 1996.
Marshall, Eliot. "Gene Tests Get Tested." Science. Vol. 275, p. 782. February 7, 1997.
Rothenberg, Karen et al. "Genetic Information and the Workplace: Legislative Approaches and Policy Challenges." Science. Vol. 275, p. 1755-57. March 21, 1997.
Sack, Catherine. "Tropic of Cancer." The New Republic. p. 46. June 2, 1997.
Seppa, N. "Can preventive mastectomies prolong lives?" Science News. Vol. 151, p.301. May 17, 1997.
Vermeulen, Robert. "Should we allow parents to choose their children’s genes?" Obtained from the www:http://srv3.inetbiz.com/objana/frog/choice.html