Genetic Testing: A Modern Healthcare Tool

Genetic Testing A Modern Healthcare ToolDNA and genetic testing have become increasingly popular, not just to discover the stories of ancestors and family roots, but also to determine whether or not a person is prone to certain medical conditions. Genes are found within your chromosomes and are made of DNA. We inherit genes from our parents, and our gene structure dictates how our body grows and regulates its bodily functions. When genes are normal, they work properly, but if they are abnormal or damaged, they can lead to the development of certain diseases, illnesses, or conditions.

Genetic Testing

Genetic testing looks for changes, also known as mutations or variations, in your DNA. It can do a lot to inform you of how you should manage your health care as testing can determine your risk for developing certain conditions. Tests are done with a sample of blood, saliva, or tissue. Abnormalities can be hereditary and run in families or just occur by chance.

There are several forms of genetic testing, such as tests that look for changes in a specific gene or tests that look for changes in a wide range of genes. A discussion with your doctor about your concerns and desires can help determine which type of testing is right for you.

How It Can Help You

Genetic testing can provide information for diagnosing, treating, and preventing illness or other medical conditions. The result of a test can rule out or confirm a suspected genetic condition and help to determine the likelihood of developing or passing on a genetic disorder.

Patients or doctors might request genetic testing to help diagnose a disease, determine the cause of a condition, decide an appropriate treatment option, see the risk of developing a particular disease or find the likelihood of passing on a condition.

Some of the benefits that patients report after undergoing genetic testing include:

  • The ability to make lifestyle changes to reduce risk of developing genetic conditions
  • Provide a sense of relief from uncertainty
  • The chance to make informed decisions about managing their healthcare
  • Enable patients to determine how to proceed with family planning

Though a gene mutation can be the sole cause of disease or condition, it is more often to be the result of a mix of genetic and environmental factors. It is also important to note that there are limitations to genetic testing. A positive result does not mean a patient will develop a genetic disorder or disease, and a negative result does not eliminate the chance of ever developing a disorder or disease.

Common Gene Mutations to Look For in Testing

In the recent popularity of genetic testing for specific mutations, there are some common genes that doctors and patients search for, such as MTHFR, COMT, and APOE.


MTHFR, or methylenetetrahydrofolate reductase, is a genetic mutation that is responsible for a particular enzyme that helps process folate, a form of vitamin B. It also plays an essential role in building proteins and important compounds found within the body. Some conditions that are associated with the mutation MTHFR include cardiovascular disease, depression, bipolar disorders, colon cancer, chronic pain and fatigue, and nerve pain.


COMT, or catechol-O-methyltransferase, is one of the several enzymes that help to break down dopamine, epinephrine, and norepinephrine. COMT is important in regulating your heartbeat, breathing, supporting cognitive function, memory, and pain reception. Some conditions that are associated with the mutation COMT include a range of mental disorders, schizophrenia, ADHD, ovarian cancer, and metastatic prostate cancer.


APOE, or apolipoprotein E, helps to provide instructions for a protein that creates lipoproteins to carry fats and cholesterol through the bloodstream. It is essential to maintain healthy levels of cholesterol to prevent cardiovascular disorders. Aside from cardiovascular disease, APOE mutations are also associated with dementia, Alzheimer’s disease, and age-related conditions such as hearing loss or macular degeneration.

Genetic testing can help give you peace of mind and provide you with information to help guide your healthcare and future. For more information on genetic testing and how you can benefit from it, schedule a consultation with See Beyond by Scarsdale Integrative Medicine today.

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