Patients

Frequently Asked Questions

How do genes affect my health?

Just as genes contribute to your unique traits, genes also play a role in your health. Sometimes a mutation or variation in your DNA can cause your body to function improperly and develop a disease.

There are many different ways genetic mutations can contribute to diseases. Some mutations can cause disease early in life, such as cystic fibrosis in newborns. Other mutations go unnoticed until they affect your health later in life, such as cancer or Alzheimer’s disease.

Why is my family history important?

Because families share many of the same environmental and genetic influences, collecting and documenting your family health history is a powerful way of learning more about your health. Your family health history can be represented by a diagram called a ‘pedigree.’

A pedigree uses symbols and lines to represent family members and relationships. A trained healthcare professional can quickly use a pedigree to identify inheritance patterns and calculate your risk for a specific disease.

Why do I need to speak to a genetic specialist?

A genetic counselor helps you understand your inherited genetic risks as well as provides counseling according to your specific needs. Discussing your genetic risks with a genetic counselor can bring you great ease and comfort regarding your health concerns. Perhaps most importantly, genetic counselors empower you to receive personalized healthcare.

How is genetic testing used 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.

What are the 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.

What are the 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. This is why it is important to work with a genetic counselor who can correctly interpret your result and review the research.