The Genetic Dilemma

ENG 3510
Spring 2003

Consider the following scenario. A woman and her husband have been trying to conceive a child for the past three years. He’s a teacher; she’s a decorator. They’ve been married for six years and desperately want to start a family. So far all they’ve met with are two miscarriages and a lot of heartache. Happily, the woman finally becomes pregnant again. This time, though, the couple wants to be prepared and visits their doctor. Prenatal testing reveals that their daughter has an extra copy of chromosome 18, a condition that is known as Edward syndrome. If the baby is born, she will inevitably suffer physical deformities and severe mental retardation. She probably won’t live more than a year. Naturally, the parents are devastated to learn this news. What should they do? They know nothing of this disorder. Where do they find the information they need? At this point, many physicians today would refer patients such as these to a genetic counselor.

With the completion of the Human Genome Project, advances in gene technology have rapidly evolved. As a result, genetic counseling is becoming an increasingly common field. According to Benjamin Pierce’s newly updated genetics textbook, “[g]enetics counseling is a new field that provides information to patients and others who are concerned about hereditary conditions.” Genetic counselors compile a patient’s genetic and hereditary history for a particular condition or disorder, including family histories. John Murphy writes that, after analysis, the counselor explains the facts, significance, and consequences of that information “in a way that’s understandable and helpful to patients.” While a general physician might be able to perform the same tasks, most don’t have the time or the resources. Additionally, a genetic counselor’s education and training combine both genetic science and human psychology, producing a professional who is understanding, knowledgeable, and easily approachable.

According to an article from the Archives of Internal Medicine, genetic counseling is a lengthy and thorough process. First, the counselor discusses the patient’s concerns and/or diagnoses with him or her. For example, a woman who has several family members with Huntington disease would like to know if she has the HD gene as well. If so, could she pass the gene on to her child? By collecting a thorough family history, the genetic counselor can diagram a family pedigree. A pedigree is similar to a family tree; it shows relationships and occurrences – such as births, marriages, and deaths – through several generations of a particular family. More importantly, the pedigree allows the counselor to easily visualize and identify the pattern of inheritance maintained by a given disease. Once the pattern of inheritance is identified, the counselor can determine whether or not the woman possesses the gene, and then calculate the woman’s risks of passing the gene on to her child. Huntington disease is inherited as an autosomal dominant gene, meaning that if the woman in the example above has the gene, she will eventually express the symptoms of Huntington. If the woman’s husband has no evidence of the disease in his family history, then he does have it either. Their child will have a 50% of inheriting the gene. If the husband has the dominant HD gene, but doesn’t know it yet, their child will have a 75% chance of inheriting it. The genetic counselor can find and arrange an appropriate genetic test for his patient, and can also help interpret the results for his patient. The most important role for the genetic counselor, however, comes in the aftermath of the testing. Learning you carry the gene for a debilitating disease is traumatic, even more so when the disease has no cure and no effective treatment. The genetic counselor can provide individual and family counseling to help patients understand both the negative and positive aspects of their diagnoses.

Understandably, the field of genetic counseling is surrounded by controversy. On one hand, “[g]enetic research provides society with improved opportunities for prevention and treatment of disease,” authors Lloyd, Reyna, and Whalen write in their 2001 article. For example, a man diagnosed with the gene mutation that causes lung cancer may decide not to smoke, improving his chances of survival. Additionally, genetic counseling can be offered to parents, as in the scenario presented in the opening paragraph, who are at risk for passing on a gene or mutation to their child. Knowledge is power. When the parents are appropriately informed about a specific disability’s causes and consequences, as well as available options, they can decide to either prepare for the birth of a physically and/or mentally disabled child or abort the pregnancy.

One example in which the use of genetic counseling and testing is obviously beneficial is in the case of Tay-Sachs disease. The GeneTests Web site, home to current articles and information about genetic disorders and genetic counseling, offers plenty of data on Tay-Sachs, a disease that is inherited as an autosomal recessive gene. Frequently occurring among members of the Ashkenazi Jewish ethnic group, Tay-Sachs affects infants as young as three months of age. Progressively, the child experiences uncontrollable and debilitating motor problems, loss of vision, seizures, increased head size, and eventually a catatonic state and then death. Most children with the disease don’t live more than a few years. Since the gene is recessive, an individual must have two identical copies of the gene before the disease will be expressed. However, a normal adult can be a carrier for the Tay-Sachs gene. If a man and a woman who are both carriers have children, they will have a 25% chance of having a child with Tay-Sachs – alarming odds.

As useful as genetic counseling appears to be, opponents argue against its rising use as well as the use of genetic testing, citing drastic individual and social ramifications. On the individual level, after undergoing genetic counseling and obtaining a diagnosis, the individual must come to terms with the significance of that diagnosis and how it will affect his or her life. Although the human genome has now been successfully mapped, much is still unknown about the genes themselves. Sometimes having a certain gene does not mean that a person will always develop that particular disorder, as indicated in the article by Lloyd et al. That uncertainty must be excruciating. Symptoms may develop in a week, in ten years, or never. Carrying such a burden would certainly have dire consequences on anyone’s emotional and mental well-being. Of course, actually knowing might not be any better. A person diagnosed with Huntington disease will almost certainly develop the disease; more specifically, they will most likely develop it between the ages of 35 and 44 years old, according to the GeneTests Web site. In this case, there is not as much uncertainty as to when symptoms might start. Instead, there is the sense of inevitability. There is no cure for Huntington disease. There is only the knowledge that one day your mental and physical capabilities will be severely compromised. What do you do with that knowledge? How do you survive? Would you have children knowing that you might pass the HD gene onto your child? These questions and more are of concern to many.

On a social level, opponents fear a barrage of abortions as women and couples learn about their unborn babies’ genetics. Studies conducted over the past thirty years and briefly summarized by Christy Roberts, et al, indicate a troubling, but not altogether surprising trend. In the studies, percentages of abortions performed because of fetal disabilities are significantly higher than those performed for other reasons. Some say this situation will only be enhanced. As research provides more information into what specific genes do, more deleterious diseases will be pinpointed on the human “blueprint.” Women will be able to go to their local genetic counselor and submit their unborn children to prenatal testing for a wide array of genetic disorders. The result? More abortions. Angus Clarke’s editorial on genetic counseling questions, “when we decide to abort a fetus that is potentially handicapped, are we not then declaring the inferior value of people with handicaps?” The consequences of these actions may be quite severe, enhancing the discrimination against the mentally and physically disabled.

Are we heralding in the next eugenics age? Science – and science fiction – certainly has the ability to lead us there. Consider, for example, the motion picture Gattaca, wherein genetically engineered people are “perfect” and normal people are discriminated against. Some might think that the abortion of a fetus with Edward syndrome is the first step to such a reality. Then again, it might never happen. It’s still too early to tell. The future will surely bring more incredible scientific advances, but also legislation that assuages society’s concerns. One thing is certain, though. Genetic counseling is a useful tool, one that should not be completely discarded. As a method of understanding and preventing such terrible diseases as Edward syndrome, Huntington, and Tay-Sachs, it has and will continue to provide valuable services – physical, mental, and emotional – to families all over the world.

Works Cited

Clarke, Angus. “Is Non-Directive Genetic Counseling Possible?” The Lancet v338 n8773 (October 19, 1991): 998.

Hubbard, Ruth. “Genomania and Health.” American Scientist v83 n1 (Jan-Feb 1995): 8.

Huq, Mahbubul, M.D., Ph.D. and Michael R. Hayden, Ph.D. “ Huntington Disease.” GeneTests Last Updated 23 October 1998. Last Accessed 21 March 2003.

<http://www.geneclinics.org/servlet/access?id=8888890&key=-RLO1VMWFp-VM&gry=INSERTGRY&fcn=y&fw=1Zaj&filename=/profiles/huntington/index.html>.

Kaback, Michael M., M.D. “Hexosaminidase A Deficiency.” GeneTests Last Updated 2 November 2001. Last Accessed 21 March 2003. <http://www.geneclinics.org/profiles/tay-sachs/>.

Lloyd, Farrell J., Valerie F. Reyna and Patrick Whalen. “Accuracy and Ambiguity in Counseling Patients About Genetic Risk.” Archives of Internal Medicine v161 (November 12, 2001): 2411.

Murphy, John. “Why You Should Offer Genetic Counseling: Offering Your Patients Genetic Counseling is Your Professional – and Legal – Duty. Here’s What’s Involved.” Review of Optometry v139 i9 (September 15, 2002): 64.

Pierce, Benjamin A. Genetics: A Conceptual Approach W.H. Freeman and Company: New York, 2003.

Roberts, Christy D., Laura M. Stough and Linda H. Parrish. “The Role of Genetic Counseling in the Elective Termination of Pregnancies Involving Fetuses with Disabilities.” Journal of Special Education v36 i1 (Spring 2002): 48.