Genetic Testing Term Paper

Excerpt from Term Paper :

Genetic Testing: Identifying Associating Issues

This paper will examine Shelley Burtt's writing "Dilemmas of Genetic Testing" as well as other sources on the subject of genetic testing. After having examined the resources available an opinion will be formed as to whether genetic testing is positive or negative for the patient and the expected child.

Genetic testing is becoming an option more commonly used by women during pregnancies to assess particular information concerning the health of the fetus they carry. Shelley Burtt's writing questions the response to the new technology of genetic testing and the fact that the autonomy of individuals is being set aside as to their choices in continuing a pregnancy where the fetus is found to have genetic defects.

Shelly contends that:

For an anxious parent, genetic testing accompanied by the possibility of therapeutic abortion appears to enhance individual freedom providing an additional measure of control over one's reproductive choices."

Recent News in Genetic Testing:

Pharmaceutical companies are advertising for "at-home" diagnostics in genetic testing. The medical community has expressed dismay that this very important procedure has been reduced to the level of a mere pregnancy test. The provision of genetic counselors in attempt to establish a guideline for women's ethics which until recently has not been done. According to a report in the Journal of the American Medical Association:

The availability of commercial genetic tests should be based on professional recommendations founded on empirical evidence, not merely on the technical feasibility of a test or its commercial potential."

Further stated was that:

The advertisements we identified do not adequately address the complexities inherent in genetic information; rather, they provide misinformation in key areas, compromising any secondary educational value. These advertisements downplay the uncertainties of genetic testing, obscure the phenotypic variability expected with positive results, and distort disease risk information for the consumer."

The fear of the medical profession is that the misinformation of the advertising added to the public's already limited knowledge of genetics will cause not only problems for the medical profession itself, but most importantly, for the individuals who are using the "at-home" genetics testing. The medical profession is worried about not only the physical health but also that of the individuals mental and emotional health after they have made a poor choice or life-altering decision based on results of those tests.

The possibility that couples are making decisions to abort the child that tests have shown positive for birth defects is one that is highly disturbing. Shelley states that:

Those that believe that the practice of genetic testing followed by selective abortion is an acceptable way of ensuring the birth of a healthy child often argue that the desire to parent a certain sort of child is not morally blameworthy. "

Then Shelley asks the following question:

On what basis do parents not feel themselves ready to parent a child with unexpectedly special needs?

The Problems with Genetic Testing:

Shelley does not convey in her writing that genetic testing is something that should not be done. Instead she informs the reader that the choice to do so should be that of the parents and not in the realm of the physician or court to have power to make orders toward the individual requiring testing be submitted to. Further Shelley writes that she feels it is imperative for parents who are thinking of aborting a fetus deemed to have genetic defects to become fully informed before making that very final and irreversible decision. The ways that she suggests that the parents becomes informed are:

Counseling with the physician.

Study and research material in relation to the genetic abnormality and the effects, issues and possibilities.

Speak with a pediatric physician who has experience in caring for children with the specific condition and gain the knowledge that they can provide about the condition and what is to be expected.

Speak and visit with other parents who are raising a child with the same condition. Spend time around the child and parent. (paraphrased and restated)

Shelly states that she and her husband have a child with Down's Syndrome stating that if his life were the life of someone else's child that she was:

painfully aware that many individuals would cut short before it began."

Shelley communicates her feelings and beliefs that there are too many times that parents see this as a type of birth control that is effective is the weeding out of fetuses that have undesirable genetic traits and that it is oftentimes seen as the "rational" thing to do.

She states that had she submitted to the genetic test (AFP) that they would have know that her son Declan was going to be born with chromosomal abnormalities. However, she stated that she and her husband had discussed that possibility and had decided that they would love the child just as it was, unconditionally, and indeed from her story, they have accomplished exactly that. Conditional was not something that applied to the love for their child but all too often, in today's modern and global society, unconditional in terms of genetic defects is a word forgotten.

Reasons for Genetic Testing

Genetic testing is sought by individuals to learn information that will aid them in both medical and personal choices. The results of having learned certain genetic information concerning oneself or results in relation to a fetus can results in an adverse impact on the emotional well being of the individual. According to Lori B. Andrews, JD:

Being identified as a carrier of a recessive genetic disease generates anxiety which can have a lasting impact on the individual. Even in instances in which the carrier status for a recessive disorder has not effect on an individual's health, carriers generally have more negative feelings about their future health."

Responsibilities of the Medical Profession:

According to a publication by the American Society of Human Genetics, Joan H. Marks, winner of the ASHG 2003 Award for Excellence, was reported stating that:

Going back to the 1970's the emphasis was on prenatal diagnosis and birth defects. Over the decades our understanding of the role of genetic risk for diseases has expanded, so has the role of the genetic counselor. In the next decades, genetic counseling will undoubtedly have an increasing and ever-more-challenging role in delivering health services. That is the challenge today for genetic counselors as they begin to apply the scientific knowledge that the Human Genome Project has made available. The process of genetic engineering also includes, to a large extent, the need to educate patients in a non-technical language that will be understandable to all people at all intellectual levels."

Very well stated is this most important ethical consideration that has the power to create new possibilities in the lives of the parents who thoroughly investigate the results of a disappointing genetic test or in the alternative don't investigate and abort the fetus without having been "fully informed."


Based on Shelley's story as well as other sources, in relation to genetics testing it is the conclusion of this paper that the medical profession should make it a priority that to develop programs to counsel the patients faced with the decision in relation to terminating a pregnancy due to genetic defects having been detected in an unborn fetus.

It is the contention of this paper that were enough information provided to patients and their spouses and family members, then with that information to consider that many of the abortions that are done in sorrow and violation of ethical and religious beliefs would never take place. Further, the life of an unborn child will have been saved.

Advances in medical science are truly only advances if the findings are elemental in creating a better world and environment for the human being as well as for the yet unborn humans. The…

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