Genetic Screening Essay

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Genetic screening, also known as preimplantation genetic diagnosis (PGD), is a newly emerging

technology that has brought with it much controversy. PGD involves the in vitro fertilization of an

embryo. “The embryos are allowed to develop to a 6 to 10 cell stage, at which point one of the

embryonic cells is removed from each embryo and the cellular DNA is analyzed for chromosomal

abnormalities or genetic mutations” (Botkin, 1998). In doing this, it can be determined which

embryos will be most likely to implant and germinate successfully in the uterus. PGD is a

complicated, technologically sophisticated process. It is a union of in vetro fertilization

technology and molecular biology (Botkin, 1998). Though it has numerous positive attributes,

there are equally as many negative ones. In fact, this issue is one that has recently become the

subject of many heated debates. Proponents for the use of PGD assert that this test allows for

parents with fertility problems to maximize their opportunity for conception and birth. Their

adversaries argue that this process is morally questionable, and though it is seen as safe alternative

to abortion couples can experience the same psychological effects as if they were dealing with an

actual abortion (Botkin, 1998). Obviously, this is an issue that does not have one distinct answer.

Each opposing side has raised some poignant arguments.

Those who are in favor of PGD generally use the arguments that it allows for the

transmission of human genetic diseases to be reduced (McClure and Tasca, 1998). Before the

usage of PGD the only other way to determine the existence of genetic diseases was by the use of

prenatal diagnosis in the form of amniocentesis or chronic villus sampling (CVS). Currently, CVS

can only be performed in the ninth to eleventh week of pregnancy, and amniocentesis can be

performed in fifteenth to eighteenth week (McClure and Tasca, 1998). At this point, the fetus is

developing within the uterus. Discovery of any abnormalities would pose the parents of the fetus

with a difficult decision. They either continue a pregnancy that will result in a genetically defected

child or abort the fetus. This is where PGD allows for what some would say an easier option.

Because PGD is a pre- pregnancy test, abnormalities can be detected prior to the embryo ever

being inserted into the mother. Currently, there are several diseases that PGD can detect such as

Cystic Fibrosis, Tay-Sachs disease, Duchenne Muscular Dystrophy, Fragile X Syndrome, and

Down Syndrome (McClure and Tasca, 1998). These are only a few of the diseases that can be

detected but as the knowledge concerning human DNA increases there will be more detectable

diseases. In addition to disease detection, PGD can also detect the gender of an embryo which

can enable the determination of the existence of sex-linked disease or a sex chromosome

imbalance (McClure and Tasca, 1998). Another of PGD’s benefits is its ability to assist women

over the age of thirty-five to successfully conceive. From this age group 50 percent of the

embryos are chromosomally abnormal (McClure and Tasca, 1998). For these women, PGD

drastically increases the odds for a successful pregnancy while the odds for miscarriage are

reduced (McClure and Tasca, 1998). PGD also has promising outlook in cancer research. In the

same manner that PGD detects single gene defects in embryo tests, it could do the same for

polygenic diseases such as cancer (Yates, 1996). Experiments with genetic screening have been

done concerning Tay-Sachs disease .The outcome of this research indicated that PGD has the

potential to be extremely beneficial. Tay-Sachs disease affects 1 in 3600 Ashkensasi Jews, couples

who were at risk for transmission of this disease to their offspring were genetically screened (

Robbers, 1990) . As a result of the screening, the number of children who were born with

Tay-Sachs disease dropped from 50 in 100 in 1970 to 13 in 100 in 1980 ( Roberts, 1990). Due to

the positive results from genetic screening, it is becoming somewhat more popular and accepted.

In a survey done by Johns Hopkins School of Public Health, a group of people were surveyed to

determine their likelihood to undergo genetic screening given their family history concerning

colon cancer (Henderson, 1999). Those who had a significant family history of colon cancer as

well as those who did not were eager to undergo gene testing (Henderson, 1999). At this point,

genetic screening has begun with a good track record. Most of those who have used it or heard

about it are positive about its real or anticipated results. PGD seems to be a promising medical

procedure, but as always with new things there are doubters and skeptics.

One of the many negative statements that the adversaries of PGD use is that it may cause

women the same psychological effects as she would experience with an abortion. The embryos

that are found to have abnormalities are usually destroyed just...

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