Uses of Genetic Testing
What are the uses of genetic testing that may be important for me
to know?
Diagnostic testing
Diagnostic testing is used to identify or confirm the diagnosis of a
disease or condition in a person or a family. Diagnostic testing gives
a "yes" or "no" answer in most cases. It is
sometimes helpful in determining the course of a disease and the
choice of treatment. Examples of diagnostic testing include chromosome
studies, direct DNA studies, biochemical genetic testing, and protein
truncation testing.
Predictive genetic testing
Predictive genetic testing determines the chances that a healthy
individual with or without a family history of a certain disease might
develop that disease. There is predictive testing available for some
adult-onset conditions (those diseases with symptoms that develop in
adulthood) such as some types of cancer, cardiovascular disease, and
some single gene disorders.
Presymptomatic genetic testing
Presymptomatic genetic testing is used to determine whether a person
who has a family history of a disease, but no current symptoms, has
the gene alteration associated with risk of disease.
Carrier testing
Carrier testing is performed to determine whether a person carries
one copy of an altered gene for a particular disease.
Prenatal diagnosis
Prenatal diagnosis is used to diagnose a genetic disease or
condition in the developing fetus.
Preimplantation studies
Preimplantation studies are used following in vitro fertilization to
diagnose a genetic disease or condition in an embryo before it is
implanted into the mother's uterus.
Newborn screening
Newborn screening is performed in newborns in state public health
programs to detect certain genetic diseases for which early diagnosis
and treatment are available.