Genetic Testing

Knowledge is the key to overcome disease.

Genetic Tests

Genetic tests are used to analyze your DNA for mutations and variations. Genetic tests have a number of different uses such as paternity and ancestry testing, forensic evidence in crime, and as a tool in healthcare.

Your healthcare professional can use the information from genetic tests to make important decisions about your health. There are many uses of genetic tests in healthcare.

  • Diagnostic - Some genetic tests can be used to confirm a diagnosis of a specific disease.
  • Predictive - Genetic tests can be used to determine if you are at higher risk for developing a disease.
  • Carrier Screening - These tests are used to determine if you are a carrier for a genetic disease and at risk to have a child with the disease.
  • Pharmacogenomics - Genetic testing can now be used to tailor treatment and drug treatment options to the individual.

A genetic counselor can help you determine the most appropriate test for you and help you use the information to make decisions toward better health.

Types of Genetic Tests

There are many different types of tests that are used to look at your genes.
These include:

  1. DNA sequence analysis: This test looks at your DNA make-up for mutations which may increase your risk for certain diseases.
  2. SNP (single-nucleotide polymorphism) testing: This test looks for small variations in your genome that are associated with increased risk for a disease.
  3. Chromosome Analysis: Also known as ‘karyotype,’ this analysis looks at the chromosomes found within the cell for malformations, deletions, and rearrangements. Techniques include FISH (Fluorescence in situ hybridization) and CGH (comparative genomic hybridization).
  4. Newborn screening: This test detects abnormal levels of compounds in the body that indicate a malfunction in a certain gene.
  5. Multiple marker screening (Triplet or Quad Screening): Similar to newborn screen except it is performed during pregnancy to find out the chances of a chromosome abnormality in the baby such as Down syndrome.

Advantages of Genetic Testing

When used correctly, genetic testing is a powerful information resource to both patients and healthcare providers. A genetic test can provide specific information that can lead to better and more personalized screening, prevention, and treatment. Genetic testing results can also relieve concern and uncertainty about certain risks and can be used to assist family planning decisions. The future will also bring forth new and exciting capabilities of genetic testing.

Disadvantages of Genetic Testing

Despite the many benefits of genetic testing, there may also be disadvantages. For example, sometimes a result from a test without appropriate counseling can give you a false sense of security which may lead to unhealthy habits. A test result may also cause unnecessary worry and anxiety if you don’t fully understand the meaning of the results.

Some available genetic tests lack the research and evidence to support claims that the test will benefit your health.

Genetic Counselors are Important

Consulting with a board-certified genetic counselor before ordering a genetic test allows you access to credible, current information about the benefits and limitations of genetic testing, allowing you to make an informed decision that is best for you. If it is decided that a genetic test will benefit you, your genetic counselor will assure that you understand your test results and what they mean for your health and well-being. A genetic counselor will help you determine your next steps to better health based on your personalized needs.

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