Genetic testing. What is genetic testing?

Ask your doctor what genetic test is right for you.

For those with a family history of certain diseases, including some types of cancer, genetic testing may offer insight to lifestyles choices and potential health outcomes.

Genetic testing consists of several types of analysis that examine DNA for any mutations in genes that could be the current or future cause of disease or illness.

It’s important to remember, however, that genetic testing is not an actual diagnosis or a prediction of one in the future. A positive result from genetic testing does not mean a person will certainly develop the disease in question. A negative result does not mean that a person won’t develop the disease, either. Consulting with a genetic specialist can help an individual understand what their results mean, as well as what lifestyle choices make sense based on the results.

 

Types of Genetic Testing.

Assessing your level of risk of developing diseases can point to optimal paths for preventation and treatment. Here are some available genetic testing options, as well as information about how they are helpful:

  • Newborn screening: In the United States, all newborns must be tested for certain genetic and metabolic abnormalities, such as phenylketonuria, congenital hypothyroidism, and sickle cell disease. When diagnosed at birth, these genetic conditions can be treated more effectively.
  • Carrier testing: Individuals who are at a higher risk of a genetic disorder based on familial or ethnic factors, such as cystic fibrosis or sickle cell anemia, may decide to have specific genetic testing conducted before making the decision to have children. 
  • Predictive and presymptomatic testing: Genetic testing can offer answers even before symptoms arrive for people who are at a higher risk of developing a condition based on genetics. This genetic testing is especially helpful when looking into diseases such as colorectal cancer.
  • Diagnostic testing: When symptoms of a disease present, genetic testing can potentially tell the patient if a suspected disorder is to blame. This can be helpful for disorders such as cystic fibrosis or Huntington’s disease.
  • Prenatal testing: Some genetic testing can be done during pregnancy to determine if any genetic abnormalities are present, such as trisomy 18 syndrome or Down syndrome. In the past, these tests were done via invasive procedures such as an amniocentesis. But now advanced cell-free testing is available. Ask your doctor which test is right for you.
  • Preimplantation testing: This test is specific to the in-vitro fertilization process. Embryos are screened for genetic abnormalities before implantation into the uterus.
  • Pharmacogenetics: For individuals already living with a disease or health condition, pharmacogenetics can guide decisions on beneficial medication, dosage, and other treatments options.
  • Genome sequencing: When genetic testing doesn't lead to a diagnosis, DNA taken from the blood may be analyzed in a process called genome sequencing to offer further genetic insight.

 

Health First’s Cancer Institute offers a variety of genetic testing options for individuals who want or need it for their own health, wellness, and peace of mind.

To schedule an appointment, call 855.894.HOPE (4673)

Most insurances accepted.

Virtual Visits are available.