What is genetic testing?

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins.
The results of a genetic test can confirm or rule out a suspected genetic condition or help determine
a person’s chance of developing or passing on a genetic disorder. More than 1,000 genetic tests
are currently in use, and more are being developed.

Several methods can be used for genetic testing:

• Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to
identify variations or mutations that lead to a genetic disorder.

• Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if
there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic
condition.

• Biochemical genetic tests study the amount or activity level of proteins; abnormalities in
either can indicate changes to the DNA that result in a genetic disorder.

Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, 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.

What are the types of genetic tests?

Genetic testing can provide information about a person's genes and chromosomes. Available types
of testing include:

Newborn screening

Newborn screening is used just after birth to identify genetic disorders that can be treated
early in life. Millions of babies are tested each year in the United States. All states currently
test infants for phenylketonuria (a genetic disorder that causes intellectual disability if left
untreated) and congenital hypothyroidism (a disorder of the thyroid gland). Most states
also test for other genetic disorders.

Diagnostic testing
 Diagnostic testing is used to identify or rule out a specific genetic or chromosomal
condition. In many cases, genetic testing is used to confirm a diagnosis when a particular
condition is suspected based on physical signs and symptoms. Diagnostic testing can be
performed before birth or at any time during a person's life, but is not available for all genes
or all genetic conditions. The results of a diagnostic test can influence a person's choices
about health care and the management of the disorder.

Carrier testing

Carrier testing is used to identify people who carry one copy of a gene mutation that, when
present in two copies, causes a genetic disorder. This type of testing is offered to
individuals who have a family history of a genetic disorder and to people in certain ethnic
groups with an increased risk of specific genetic conditions. If both parents are tested, the
test can provide information about a couple's risk of having a child with a genetic condition.

Prenatal testing

Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth.
This type of testing is offered during pregnancy if there is an increased risk that the baby
will have a genetic or chromosomal disorder. In some cases, prenatal testing can lessen a
couple's uncertainty or help them make decisions about a pregnancy. It cannot identify all
possible inherited disorders and birth defects, however.

Preimplantation testing

Preimplantation testing, also called preimplantation genetic diagnosis (PGD), is a

specialized technique that can reduce the risk of having a child with a particular genetic or
chromosomal disorder. It is used to detect genetic changes in embryos that were created
using assisted reproductive techniques such as in-vitro fertilization. In-vitro fertilization
involves removing egg cells from a woman’s ovaries and fertilizing them with sperm cells
outside the body. To perform preimplantation testing, a small number of cells are taken
from these embryos and tested for certain genetic changes. Only embryos without these
changes are implanted in the uterus to initiate a pregnancy.
Predictive and presymptomatic testing

Predictive and presymptomatic types of testing are used to detect gene mutations associated
with disorders that appear after birth, often later in life. These tests can be helpful to people
who have a family member with a genetic disorder, but who have no features of the disorder
themselves at the time of testing. Predictive testing can identify mutations that increase a
person's risk of developing disorders with a genetic basis, such as certain types of cancer.
Presymptomatic testing can determine whether a person will develop a genetic disorder,
such as hereditary hemochromatosis (an iron overload disorder), before any signs or
symptoms appear. The results of predictive and presymptomatic testing can provide
information about a person’s risk of developing a specific disorder and help with making
decisions about medical care.

Forensic testing

Forensic testing uses DNA sequences to identify an individual for legal purposes. Unlike
the tests described above, forensic testing is not used to detect gene mutations associated
with disease. This type of testing can identify crime or catastrophe victims, rule out or
implicate a crime suspect, or establish biological relationships between people (for
example, paternity).

How is genetic testing done?

Once a person decides to proceed with genetic testing, a medical geneticist, primary care doctor,
specialist, or nurse practitioner can order the test. Genetic testing is often done as part of a genetic
consultation.

Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds
a fetus during pregnancy), or other tissue.

Newborn screening tests are done on a small blood sample, which is taken by pricking the baby's
heel. Unlike other types of genetic testing, a parent will usually only receive the result if it is
positive. If the test result is positive, additional testing is needed to determine whether the baby
has a genetic disorder.

Before a person has a genetic test, it is important that he or she understands the testing procedure,
the benefits and limitations of the test, and the possible consequences of the test results. The
process of educating a person about the test and obtaining permission is called informed consent
What are the benefits of genetic testing?
Genetic testing has potential benefits whether the results are positive or negative for a gene
mutation. Test results can provide a sense of relief from uncertainty and help people make
informed decisions about managing their health care. For example, a negative result can eliminate
the need for unnecessary checkups and screening tests in some cases. A positive result can direct
a person toward available prevention, monitoring, and treatment options. Some test results can
also help people make decisions about having children. Newborn screening can identify genetic
disorders early in life so treatment can be started as early as possible.

What are the risks and limitations of genetic testing?

The physical risks associated with most genetic tests are very small, particularly for those tests that
require only a blood sample or buccal smear (a method that samples cells from the inside surface
of the cheek). The procedures used for prenatal testing carry a small but real risk of losing the
pregnancy (miscarriage) because they require a sample of amniotic fluid or tissue from around the
fetus.

Many of the risks associated with genetic testing involve the emotional, social, or financial
consequences of the test results. People may feel angry, depressed, anxious, or guilty about their
results. In some cases, genetic testing creates tension within a family because the results can reveal
information about other family members in addition to the person who is tested. The possibility of
genetic discrimination in employment or insurance is also a concern.
Genetic testing can provide only limited information about an inherited condition. The test often
can't determine if a person will show symptoms of a disorder, how severe the symptoms will be,
or whether the disorder will progress over time. Another major limitation is the lack of treatment
strategies for many genetic disorders once they are diagnosed.

A genetics professional can explain in detail the benefits, risks, and limitations of a particular test.
It is important that any person who is considering genetic testing understand and weigh these
factors before making a decision.