Genetic testing is useful in many areas of medicine and can change the medical care you or
your family member receives. For example, genetic testing can provide a diagnosis for a
genetic condition such as Fragile X or information about your risk to develop cancer. There
are many different kinds of genetic tests.
Genetic testing plays a vital role in determining the risk of developing certain
diseases as well as screening and sometimes medical treatment. Different types of
genetic testing are done for different reasons:
• Diagnostic testing. If you have symptoms of a disease that may be
caused by genetic changes, sometimes called mutated genes, genetic
testing can reveal if you have the suspected disorder. For example,
genetic testing may be used to confirm a diagnosis of cystic fibrosis or
Huntington's disease.
• Presymptomatic and predictive testing. If you have a family history of
a genetic condition, getting genetic testing before you have symptoms
may show if you're at risk of developing that condition. For example, this
type of test may be useful for identifying your risk of certain types of
colorectal cancer.
• Carrier testing. If you have a family history of a genetic disorder — such
as sickle cell anemia or cystic fibrosis — or you're in an ethnic group that
has a high risk of a specific genetic disorder, you may choose to have
genetic testing before having children. An expanded carrier screening
test can detect genes associated with a wide variety of genetic diseases
and mutations and can identify if you and your partner are carriers for the
same conditions.
• Pharmacogenetics. If you have a particular health condition or disease,
this type of genetic testing may help determine what medication and
dosage will be most effective and beneficial for you.
• Prenatal testing. If you're pregnant, tests can detect some types of
abnormalities in your baby's genes. Down syndrome and trisomy 18
syndrome are two genetic disorders that are often screened for as part of
prenatal genetic testing. Traditionally this is done looking at markers in
blood or by invasive testing such as amniocentesis. Newer testing called
cell-free DNA testing looks at a baby's DNA via a blood test done on the
mother.
• Newborn screening. This is the most common type of genetic testing. In
the United States, all states require that newborns be tested for certain
genetic and metabolic abnormalities that cause specific conditions. This
type of genetic testing is important because if results show there's a
disorder such as congenital hypothyroidism, sickle cell disease or
phenylketonuria (PKU), care and treatment can begin right away.
• Preimplantation testing. Also called preimplantation genetic diagnosis,
this test may be used when you attempt to conceive a child through in
vitro fertilization. The embryos are screened for genetic abnormalities.
Embryos without abnormalities are implanted in the uterus in hopes of
achieving pregnancy
1/ Gene expression tests
Gene expression tests look at which genes are turned on or off (expressed) in
different types of cells. When a gene is turned on (active), the cell produces a
molecule called mRNA from the instructions in the genes, and the mRNA molecule is
used as a blueprint to make proteins. Gene expression tests study the mRNA in cells
to determine which genes are active. Too much activity (overexpression) or too little
activity (underexpression) of certain genes can be suggestive of particular genetic
disorders, such as many types of cancer.
-measuring gene expression can:
• Identify viral infection of a cell (viral protein expression).
• Determine an individual's susceptibility to cancer (oncogene expression).
• Find if a bacterium is resistant to penicillin (beta-lactamase expression).
2/ Chromosomal tests
Chromosomal tests analyze whole chromosomes or long lengths of DNA to identify
large-scale changes. Changes that can be found include an extra or missing copy of
a chromosome (trisomy or monosomy, respectively), a large piece of a chromosome
that is added (duplicated) or missing (deleted), or rearrangements (translocations) of
segments of chromosomes. Certain genetic conditions are associated with specific
chromosomal changes, and a chromosomal test can be used when one of these
conditions is suspected.
Depending on the type of test, a sample of your blood, skin, amniotic fluid or other
tissue will be collected and sent to a lab for analysis.
• Blood sample. A member of your health care team takes the sample by
inserting a needle into a vein in your arm. For newborn screening tests, a
blood sample is taken by pricking your baby's heel.
• Cheek swab. For some tests, a swab sample from the inside of your
cheek is collected for genetic testing.
• Amniocentesis. In this prenatal genetic test, your doctor inserts a thin,
hollow needle through your abdominal wall and into your uterus to collect
a small amount of amniotic fluid for testing.
• Chorionic villus sampling. For this prenatal genetic test, your doctor
takes a tissue sample from the placenta. Depending on your situation,
the sample may be taken with a tube (catheter) through your cervix or
through your abdominal wall and uterus using a thin needle.
Genetic testing is voluntary. Because testing has benefits as well as limitations and risks
(such as a small but real risk of losing the pregnancy (miscarriage when doing the
Chorionic villus sampling test) as well as Many of the risks associated with genetic testing
involve the emotional, social, or financial consequences of the test results.
For this reason the decision about whether to be tested is a personal and complex one.
A geneticist or genetic counselor can help by providing information about the pros and cons
of the test and discussing the social and emotional aspects of testing.
