Mayo Clinic: What do doctors mean when they talk about
"personalized" medicine? How is personalized
medicine connected to genetic testing?
Personalized medicine (also called precision or individualized
medicine) is a rapidly growing medical field. It focuses on
improving the diagnosis, treatment and prevention of disease.
The information health care providers use as a basis for
individualized medicine is gathered, in large part, through
clues found in a personís genes.
addition to determining your physical traits, such as eye
color and height, your genes have an enormous impact on your
health. Collecting information about your genes through
genetic testing can provide you and your health care providers
with valuable medical information.
are several kinds of genetic testing available. Some tests are
specific to inherited diseases and conditions that may be
passed to you in your genes from your parents, such as cystic
fibrosis or sickle cell anemia. Other genetic tests can check
for genetic changes or variants (sometimes called mutations)
that make it more likely you might develop a condition, such
as breast cancer or harmful blood clots.
kind of genetic test called whole-genome sequencing goes
beyond individual medical conditions and provides detailed
information about all of a personís genetic code. Along with
data about health and medical care, whole-genome sequencing
can reveal more information. Research is ongoing to better
understand all the information held in the human genome.
have heard about direct-to-consumer genetic testing through
radio, TV or internet advertisements. In this type of testing,
a consumer provides a saliva or cheek swab sample to the
company without a health care provider. Some companies offer
carrier status, health traits, wellness, or ancestry/family
origin information. These tests attempt to help consumers
better understand how genes influence health and wellness, and
may help them talk to their health care provider about
conditions that can run in families. Some tests provide
information for entertainment or enjoyment. Itís important
to know the difference.
information gathered through clinical genetic testing can
offer valuable insight into how health care can be tailored to
fit an individualís specific health needs. One area where a
considerable amount of research is being performed is in the
way a personís genetic makeup may affect how his or her body
responds to certain medications.
example, for the common prescription pain medication tramadol
to work effectively, the body has to process it to an active
form. If your body canít process the medication due to your
genetic makeup, you may not get pain relief from that drug.
Another example of genetic testing helps identify a cancer
tumorís genomic profile ó something like a fingerprint.
Then, cancer therapies can be selected based on that tumorís
variants. This enables your health care provider to choose a
medication that targets the tumor more effectively. When a
health care provider has this type of genetic information, he
or she can prescribe a medication to best meet that individualís
that example sounds straightforward, the connection between
medication effectiveness and genes is ó like most topics
associated with genetics ó quite complex and requires a
great deal of research. Mayo Clinic researchers are exploring
how the information gleaned from genetic testing can further
inform the process of medication prescription.
now, individualized medicine is focused largely on customizing
medical diagnosis, treatment and prevention based on a personís
genes. But, in time, the field is likely to progress beyond
genetics. Research is underway thatís examining how the
community of bacteria that live within a person ó the
microbiome ó could affect certain diseases.
individualized medicine moves forward, the goal is to
personalize health care in such a way that each person
receives optimal care thatís crafted to suit his or her
unique situation and needs. Mayo Clinic is leading the
translation of individualized medicine into practice.