Thursday, October 15, 2009

Genetic testing? Gene therapy? Genetic counseling? Is it worth it?

The recent strides in genetic testing and gene therapy have opened up new possibilities and options in the prevention and detection of many genetic anomalies. The genetic exploration can occur prior to conception through genetic counseling, or after conception in the form of some high risk testing options.

Preventative genetic counseling is the least risky step in preventing genetic disorders for families attempting to have children. Through the genetic counselor, the parents are tested with the goal of determining any defective alleles present and the likelihood that a genetic disorder may be expressed due to their presence (Gauvin, 2009). Having this knowledge empowers the parents to make choices best for their family, whether to attempt conception or to utilize other means of creating a family such as donors, adoption, etc.

One such option is amniocentesis. This test allows the researcher to take amniotic fluid from the amniotic sac surrounding the fetus (Gauvin, 2009). The amniotic fluid contains the cells from the fetus and allows the analyzing of the chromosomes and genetic makeup (Gauvin, 2009). The optimal time to draw this sample is in the sixteenth week of pregnancy and carries the risk of miscarriage for the mother (Gauvin, 2009). The risk is considered to be around 1 miscarriage per 200-300 tests (Gauvin, 2009).

A second common genetic test is chorionic villi sampling. This test carries a higher risk of miscarriage than the amniocentesis, yet it is able to be performed earlier in the pregnancy at the ninth week (Gauvin, 2009). The test also allows for a risk of limb and physical deformities to arise (Gauvin, 2009). Chorionic villi sampling uses cells from the chorionic villi from the chorion to utilize as the testing sample (Gauvin, 2009). The chorion is the membrane that outermost surrounds the amniotic sac and contains identical chromosomes and genes to those of the embryos, although the chorion is not considered part of the embryo (Gauvin, 2009). This testing examines chromosome anomalies, attempts to predict chromosome disorders, and has the potential to look at the genetic markers that have been deemed indicators of many disorders (such as Alzheimer’s, Huntington’s Chorea, etc) (Gauvin, 2009).

Recently, strides have been made in the area of gene therapy in which normal alleles are inserted into the cells of the patient to attempt to compensate for the defective alleles (Gauvin, 2009). If successful, large scale, this would have obvious potential for curing and preventing many disorders and diseases that are genetically linked such as Crohn’s, Down’s syndrome, Fragile X syndrome, etc.

Controversy obviously surrounds these testing measures. One issue is that parents need to be fully informed that if an anomalies is detected, there is no guarantee that the result will be serious problems because the testing discussed does not explore or contribute to the environmental factors that are present (Gauvin, 2009). There is the fear that scientists are attempting to play God. There is also the risk of the testing procedures discussed versus the knowledge gained. Would knowing your child may be born with Down syndrome really change anything other than having the parent worry excessively? Unless the parent was considering abortion, the risks do not appear to outweigh the information obtained. This leads to another concern, would the knowledge increase the rates of abortion? As mentioned above, the environmental factors are not taken into account with these testing procedures, so it is unclear if the deformed allele will actually express. The question of what criteria warrants an abortion emerges? Could this knowledge lead to insurance companies requiring genetic testing and determining rates based on this knowledge? These are all concerns that have been expressed by society in regards to genetic testing.

A final point of concern with this testing is the stigma that then becomes attached to those with “special abilities” versus disabilities. The disabled movement has worked diligently to remove the stigmatism attached to their disabilities and to be accepted as functional members of society. Creating testing which has the potential to remove or eliminate any genetic disorder provides a negative cloud over the developmentally disabled, once again. Obviously, no parent wants their child to suffer or be treated differently; however, many people believe that everyone has a place in society regardless of their physical and mental attributes. Another concern is where the line will be drawn with the testing and gene therapy? Will science move towards allowing parents to create their own perfect child? Choosing the hair color, physical attributes, IQ? Although that may seem like Hollywood hype, history shows that some societies have already attempted this through other means.

Valerie Poling
Works Cited
Gauvin, P. (2009). Child Psychology: A Contemporary Viewpoint, 7th ed. In C. U. HASOP, Psychology Human Prenatal Development (pp. 3-36). McGraw-Hill Primis.

Reblog this post [with Zemanta]

Labels: , , , , , , ,


Post a Comment

Subscribe to Post Comments [Atom]

Links to this post:

Create a Link

<< Home