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Personalized medicine focuses on patients’ genetic clues

Genetic testing can provide valuable information for diagnosis,

Genetic testing can provide valuable information for diagnosis, treatment and prevention. Photo Credit: iStock / NicoElNino

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 based on clues found in a person’s genes.

In addition to determining your physical traits, such as eye color and height, your genes have an enormous effect on your health. Collecting information about your genes through genetic testing can provide you and your health care providers with valuable medical information.

Several kinds of genetic testing are available. Some tests are specific to inherited diseases and conditions, such as cystic fibrosis or sickle cell anemia. Other 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 blood clots.

Diving into DNA

A newer kind of genetic test called whole-genome sequencing goes beyond individual medical conditions and provides detailed information about all of a person’s genetic code. Along with data about health and medical care, whole-genome sequencing can reveal more information. Research is continuing to better understand all the information held in the human genome.

You may 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 disease carrier status, health traits, wellness or ancestry and 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. It’s important to know the difference.

The information gathered through clinical genetic testing can offer valuable insight into how health care can be tailored to fit an individual’s specific needs. One area where a considerable amount of research is being performed is in the way a person’s genetic makeup may affect how his or her body responds to certain medications.

For example, for the common prescription pain medication tramadol to work effectively, the body has to process it to an active form. If your body can’t process the medication due to your genetic makeup, you may not get pain relief from that drug.

Genomic profile for cancer

Another example of genetic testing helps identify a cancer tumor’s genomic profile — something like a fingerprint. Then, cancer therapies can be selected based on that tumor’s variants. This enables your health care provider to choose a medication that targets the tumor more effectively.

Although that example sounds straightforward, the connection between medication effectiveness and genes is — like most topics associated with genetics — 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.

Right now, individualized medicine is focused largely on customizing medical diagnosis, treatment and prevention based on a person’s genes. But, in time, the field is likely to progress beyond genetics. Research is under way that’s examining how the community of bacteria that live within a person — the microbiome — could affect certain diseases.

As individualized medicine moves forward, the goal is to personalize health care in such a way that each person receives optimal care that’s crafted to suit his or her unique situation and needs.

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