Genetic Testing

Genetic tests are done by analyzing small samples of blood or body tissues. They determine whether you, your
partner, or your baby carry genes for certain inherited disorders.
Genetic testing has developed enough so that doctors can often pinpoint missing or defective genes. The type
of genetic test needed to make a specific diagnosis depends on the particular illness that a doctor suspects.
Many different types of body fluids and tissues can be used in genetic testing. For deoxyribonucleic acid (DNA)
screening, only a very tiny bit of blood, skin, bone, or other tissue is needed.
Each year a significant number of children are born with some type of hereditary, genetic defect. Several of
these defects can be determined while the unborn baby is still in the womb of the mother. Throughout recent
years, genetic engineering has proved to be beneficial to families who are prone to birth defects. A
controversy arises between those who believe in genetic engineering and those who do not believe in genetic
engineering. People who are against genetic engineering question human's right to try to play the role of God
by altering the way he has made a child. To answer this, God gave doctors the ability to help those couples
who are prone to having children with birth defects. God gave humans the knowledge to take the technology
that he has presented to them and use it to help a child in need. Therefore, God also gave those couples
considering the use of genetic engineering the ability to take into their own hands the outcome of their child's
life.
Genetic engineering involves several techniques which manipulate and alter the genes found in the cells of
living organisms (Morris 58). Some of these techniques include gene therapy and genetic screening, both of
which are beneficial in some way to those who possibly carry a gene that could cause a birth defect. Gene
therapy is the medical replacement or repair of defective genes in living cells (Dudley 252). To further explain,
if a person carried the defective gene for Tay-Sachs disease a gene therapist could splice the defective gene
(transform the DNA) and replace it with a non-defective gene. This will not only help a person that has the
defective genes but also will in turn help if he or she decides to have a child. Genetic screening is the testing of
individuals for genetic abnormalities (Dudley 252). Such screening gives a couple the option to go to a genetic
counselor and be tested to discover if they carry any defective or life-threatening genes.
Genetic Testing During Pregnancy
For genetic testing before birth, pregnant women may decide to undergo amniocentesis or chorionic villus
sampling. There is also a blood test available to women to screen for some disorders. If this screening test
finds a possible problem, amniocentesis or chorionic villus sampling may be recommended.
Amniocentesis is a test usually performed between weeks 15 and 20 of a woman's pregnancy. The doctor
inserts a hollow needle into the woman's abdomen to remove a small amount of amniotic fluid from around
the developing fetus. This fluid can be tested to check for genetic problems and to determine the sex of the
child. When there's risk of premature birth, amniocentesis may be done to see how far the baby's lungs have
matured. Amniocentesis carries a slight risk of inducing a miscarriage.
Chorionic villus sampling (CVS) is usually performed between the 10th and 12th weeks of pregnancy. The
doctor removes a small piece of the placenta to check for genetic problems in the fetus. Because chorionic
villus sampling is an invasive test, there's a small risk that it can induce a miscarriage.
Why Doctors Recommend Genetic Testing
A doctor may recommend genetic counseling or testing for any of the following reasons:
 A couple plans to start a family and one of them or a close relative has an inherited illness. Some
people are carriers of genes for genetic illnesses, even though they don't show, or manifest, the illness
 themselves. This happens because some genetic illnesses are recessive — meaning that they're only
expressed if a person inherits two copies of the problem gene, one from each parent. Offspring who
inherit one problem gene from one parent but a normal gene from the other parent won't have
symptoms of a recessive illness but will have a 50% chance of passing the problem gene on to their
children.
 A parent already has one child with a severe birth defect. Not all children who have birth defects have
genetic problems. Sometimes, birth defects are caused by exposure to a toxin (poison), infection, or
physical trauma before birth. Often, the cause of a birth defect isn't known. Even if a child does have a
genetic problem, there's always a chance that it wasn't inherited and that it happened because of
some spontaneous error in the child's cells, not the parents' cells.
 A woman has had two or more miscarriages. Severe chromosome problems in the fetus can
sometimes lead to a spontaneous miscarriage. Several miscarriages may point to a genetic problem.
 A woman has delivered a stillborn child with physical signs of a genetic illness. Many serious genetic
illnesses cause specific physical abnormalities that give an affected child a very distinctive appearance.
 The pregnant woman is over age 34. Chances of having a child with a chromosomal problem (such as
trisomy) increase when a pregnant woman is older. Older fathers are at risk to have children with new
dominant genetic mutations (those caused by a single genetic defect that hasn't run in the family
before).
 A standard prenatal screening test had an abnormal result. If a screening test indicates a possible
genetic problem, genetic testing may be recommended.
 A child has medical problems that might be genetic. When a child has medical problems involving
more than one body system, genetic testing may be recommended to identify the cause and make a
diagnosis.
 A child has medical problems that are recognized as a specific genetic syndrome. Genetic testing is
performed to confirm the diagnosis. In some cases, it also might aid in identifying the specific type or
severity of a genetic illness, which can help identify the most appropriate treatment.
A Word of Caution
Although advances in genetic testing have improved doctors' ability to diagnose and treat certain illnesses,
there are still some limits. Genetic tests can identify a particular problem gene, but can't always predict how
severely that gene will affect the person who carries it. In cystic fibrosis, for example, finding a problem gene
on chromosome number 7 can't necessarily predict whether a child will have serious lung problems or milder
respiratory symptoms.
Also, simply having problem genes is only half the story because many illnesses develop from a mix of high-risk
genes and environmental factors. Knowing that you carry high-risk genes may actually be an advantage if it
gives you the chance to modify your lifestyle to avoid becoming sick.
As research continues, genes are being identified that put people at risk for illnesses like cancer, heart disease,
psychiatric disorders, and many other medical problems. The hope is that someday it will be possible to
develop specific types of gene therapy to totally prevent some diseases and illnesses.
Gene therapy is already being studied as a possible way to treat conditions like cystic fibrosis, cancer, and ADA
deficiency (an immune deficiency), sickle cell disease, hemophilia, and thalassemia. However, severe
complications have occurred in some patients receiving gene therapy, so current research with gene therapy is
very carefully controlled.
Although genetic treatments for some conditions may be a long way off, there is still great hope that many
more genetic cures will be found. The Human Genome Project, which was completed in 2003, identified and
mapped out all of the genes (about 25,000) carried in our human chromosomes. The map is just the start, but
it's a very hopeful beginning.