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What Are The Different
Types of Genetic Tests?
Carrier testing: is used to find people
who “carry” a change in a gene that is
linked to disease. Carriers may show
no signs of the disease. However,
carriers can pass on the gene change
to their children, who may develop
the disease or become carriers
themselves. For example, in the case
of thalassemia or sick-cell anemia.
This type of testing is usually offered
to people who have a family history
of a specific inherited disease or
couples who are related by blood.
Prenatal testing: is offered during
pregnancy to help identify fetuses
that have certain diseases.
Newborn Screening: is used to test
babies 1-2 days after birth to find out
if they have certain diseases known
to cause problems with health and
development. For example, in the
case of G6PD or Cystic Fibrosis.
Diagnostic testing: is used to
precisely identify the disease that is
making a person ill. The results of a
diagnostic test may help you make
choices about how to treat or manage
your health problems, for example in
the case of Down Syndrome.
Predictive and pre-symptomatic
testing: is used to find gene
changes that increase a person’s
likelihood of developing diseases.
The results of these tests provide
you with information about your
risk of developing a specific disease.
Such information may be useful in
decisions about your lifestyle and
healthcare; for example, in the case of
breast cancer or Alzheimer’s disease.
Pharmacogenomic testing: gives
information about how certain
medicines are processed by an
individual’s body. This type of testing
can help your healthcare provider
choose the medicines that work
best with your genetic make-up.
For example, Tamoxifen for BRCA
mutations.
H
How Is Genetic
Testing Done?
Genetic tests are done on a small
sample of tissue from your body.
These tissues may include:
Blood
Cells swabbed from inside your
mouth
Saliva
Hair
Skin
Tumors, or the fluid that
surrounds a fetus during
pregnancy
The sample is collected by your
healthcare provider and sent
to a laboratory that tests it for
certain changes in your DNA. The
lab usually gives the test results
in writing to your healthcare
provider/genetic counselor, who
then discuss them with you.
What Are Some
Questions To Ask
When Considering
A Genetic Test?
If you are trying to decide
whether or not to undergo
a genetic test, some
questions you may want to
ask are:
Are there any ways to
prevent or treat the
disease for which I’m
being tested?
What safeguards are
there to protect the
privacy of my test
results, especially
from insurers and
employers?
Will my health
insurance cover the cost
of the test?
What Can I Learn
About My Health
From Genetic Testing?
The results of your genetic testing
may help to:
Diagnose a disease
Find gene changes responsible
for an already diagnosed disease
Assess how severe a disease
might be
Guide towards a selection of
medicines and other treatments
Find gene changes that increase
risk of developing a disease
Find gene changes that could be
passed on to children
Who Can
Help Me
Understand
Genetic
Testing and
Whether I
Need to be
Tested?
Your healthcare
provider
or genetic
counselor
can help you
understand
genetic testing
and assess
whether you
need to get
testing by taking
a family and
medical history.
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May/June 2015