Genetic Testing And Its Social Implications

This essay has a total of 3250 words and 14 pages.

Genetic Testing And Its Social Implications

Probably, applied genetics' most impacts on society are as a result of genetic tests. In
general, genetic tests seek to detect some feature of a person's genetic constitution.
This feature can be a disease causing mutation or a marker DNA sequence used to detect
presence of another gene. Obviously these procedures used for testing the status of DNA,
RNA or chromosomes are included in genetic tests. What is more it is possible to include
some protein based tests and classical medical examinations when they aim to detect
inheritance of a trait. Genetic tests have been divided into four categories in this text,
and they will be examined in greater detail later. These categories are:

Prenatal tests that are applied on fetuses during pregnancy.
Neonatal screening just after birth and career screening of marrying couples.
Testing for serious late-onset disease before the symptoms occur.
Testing to assess the probability of developing complex disease.

There are a couple of considerations about genetic tests:
1. First of all, the tests should be reliable. When a positive or a negative result is
obtained, we should be confident in that result with a confidence approaching 100%. To
achieve such a high accuracy is not as easy as it may at first appear to be. Meiotic
recombinations that always occur take place during gamete generation, may separate a
disease-associated gene and a marker DNA sequence which is used to detect mutated genes.
False positive or negative results could be obtained. In addition, genetic tests look for
the most common mutations that cause the disease. For example, a test would detect
CFTR?F508 (Cystic Fibrosis Transmembrane Receptor) mutation, however it is not possible to
detect infinite number of other mutations. Therefore, a genetic test can give such results
so that the physician is convinced that his patient is normal while he is affected by an
undetectable mutation. New tests are continuously being developed. Doctors and genetic
counselors who will use these tests in the future, should be well informed about newly
emerging tests.


2. Extremely accurate genetic tests can only be developed by thorough experimentation on
human subjects. Although there is generally no physiological risk in experimenting a
person, the subjects should be informed that the applied test is not entirely reliable and
in experimentation state. Informing subjects of experimentation is an obligation set by
the Nuremberg Code. Just after World War II it was discovered that unethical experiments
had been performed on humans who were kept in concentration camps of Nazi Germany. This
situation was discovered in Nuremberg Trials, and ethical and legal standards for medical
experimentation were set then. Research and common medical procedures are distinct
concepts. If a genetic test's validity has been proven by extensive research and the test
being used as a routine medical procedure to diagnose patients, it is no more considered
as experimental and is not covered by the Nuremberg Code. Nevertheless, the patient should
be well informed and his consent should be taken even before applying a routine test. The
subject of the test should fully understand the nature of the test and the consequences
that may arise from it. The subject of the test should be fully aware of the nature of the
test and the consequences caused by the test. Therefore, a professional counselor is
needed to psychologically counsel and inform the subjects both before and after the test
is taken. Sometimes, the person taking the test cannot give an informed consent when it is
a small child or mentally retarded person. In this case, it is still required to take
consent of the parents or legal guardians. The tests should only be applied for vital
medical reasons. For example, it is not very ethical to test a young girl for a sex linked
genetic disease. Because it is intensely related with the future life of the girl, her
consent should be taken. As a rule of thumb, the physician performing the tests should
consider the children's opinion and give an increasing importance to them with their age.


3. Tests should not be carried out if there is not sufficient reason to do so. The person
tested may face extremely unfavorable outcomes and this may cause psychological distress.
Deciding to get married, becoming pregnant, taking some medical precautions before the
first symptoms come about and taking financial and career decisions are examples of
reasons that justify taking of a test.


4. The rights of knowing someone's own health status and keeping that information private
to oneself should be provided to all members of a society. Only the individual should have
full access to information about his own genetic constitution and others should be
prevented by legal regulations. As we have said above, the results of genetic tests can
sometimes be detrimental to the individual. If a person does not want to know the
information, its nobody's business nor right to declare it. This includes even not
explaining favorable test results without the individual's request.


5. Influences of genetic tests can sometimes go far beyond the nuclear family. Especially
in some illnesses penetrance shows extreme variability. So, strike of the disease may skip
generations or at least some individuals. A distant relative's genetic status may as well
bother an individual. He cannot take his parents' being healthy as an evidence for his
being healthy. Parents can be carriers without showing the symptoms. There can be
contrasting situations where one wants to know his genetic status and another objects his
taking the test refraining from unintentionally learning some unfavorable information.


A. Prenatal Testing
Prenatal testing is the process of testing the genetic status of an embryo when there is a
risk of a serious monogenic disease or when there is a proliferated risk of gross
chromosomal disorder such as Down's syndrome. Prenatal testing should only be done if the
parents are determined to terminate the pregnancy in the event of an unfavorable outcome.
It is a very beneficial technology as it encourages couples, who had one genetically
defective baby and do not want to have another child because of high risk, to attempt
pregnancy by assuring them that in an adverse result pregnancy can be terminated. Positive
aspects of such tests are easily distinguishable. However, there also are a number of
controversial points.


Prenatal tests are not totally free of risk. During prenatal tests, a sample from the
embryo's cells should be taken out by a procedure known as amniocentesis. It involves
insertion of an injection to mother's uterus and sucking some fluid from chorionic villus
of the embryo. It can disturb the embryo. Amniocentesis carries a 1% risk of miscarriage.
So, prenatal tests should only be applied when the risk of having a defective baby is much
higher.


Prenatal tests should only be made with an idea of termination of the pregnancy in mind.
Genetic counselors should explain what it means thoroughly to the couple. As it is
explained above, prenatal tests carry a considerable risk of miscarriage and it is not
sensible to perform them if the couple would carry on with the pregnancy whatever the
result is. Nonetheless, parents always keep the right of not terminating even if they will
have a defective child. Some ethnic and religious groups may object the application of
prenatal tests because of not accepting in principle the procedures like abortion
following test. However, abortion is the legal right of pregnant woman in most countries
and no one should be let to interfere with usage of this right.


A lot of tests are applied to pregnant women to assure themselves and their embryo's
health status. It is a possibility that the prospective mother may not understand or
confuse the nature of prenatal test. She may take a test without a view of termination.
And she may become faced to carry out pregnancy in the knowledge that her child will be
born defective i.e. with Down's syndrome. Of course, prenatal tests should be routinely
carried out when necessity arises, but the time should be taken to explain the nature of
the test to the prospective mother.


B. Neonatal Screening
Neonatal screening is performed just after the baby's birth to test for the presence of
common genetic disorders such as Phenylketonurea, CF or genetic anemia. Neonatal screening
is not carried out for very rare genetic diseases or when there is no possible treatment
or precaution to be taken. However, some illnesses, which are widespread in certain ethnic
groups, are routinely tested in developed countries. For example, phenylketonurea is a
genetic defect, which causes mental retardation of the child due to phenylalanine
accumulation in the brain. The babies testing positive for this disease can grow with
healthy minds if a phenylalanine diet is applied for the first few years of child's
development. For all genetic tests, it would be nice to inform the parents about the
nature of the test. However, there is usually not sufficient time, so the tests are
applied routinely without asking the parents. The benefits obtained outweigh this adverse
situation.


Carrier screening may be applied to decrease the incidence of a genetic disease within a
community. Although the frequency of the defective gene will not change, at least
homozygous recessive mutation carrying individuals are not produced. Carrier screening is
applied when a couple decides to get married. If their offspring are in considerable risk,
they may decide not to marry, not to have children or apply prenatal tests during
pregnancy and abort any defective embryos. Carrier screening for ?-thalassaemia in Cyprus
and Sardinia has decreased the incidence of the disease. It is also carried out to test
for the mutation that causes Tay-Sachs disease that is common in Ashkenazi Jews. In both
cases the religious leader supports the programme and warns the couples both of which are
carriers before they get married.


Carrier screening may result with genetic discrimination against carriers. People who have
been diagnosed as carriers may find it difficult to find partners for marriage, may be
discriminated against by employers or insurance companies. For example, carriers of sickle
cell anemia who were identified as a result of a compulsory population-screening programme
during 1970's, were discriminated against in several American states. Although the
geneticist who performs the population screening for rational reasons knows that being a
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