Genetic Testing & Counseling

Genetic counseling provides a time to meet with a genetic counselor to evaluate your personal and family medical histories, perform risk assessments, and order genetic testing. Risk assessments provide you with information about your chance of having a genetic condition related to your referral. Please check with your clinic or provider to see if a referral is needed.  

What is genetic testing?

Genetic testing reads through the letters of your DNA to look for a genetic answer to you or your family's health conditions. There are many different types of genetic tests that look at specific parts of your DNA. Having a genetic counseling session does not mean that you are having genetic testing. The genetic counselor will explain the testing process so that you can decide if it is right for you. They will also discuss insurance coverage and the cost of testing. Genetic testing often requires a blood draw, but saliva samples are an option for some tests. 

If testing finds a disease-causing variant or a variant that increases your chance of developing illness, you will be given information on screening, surgeries, or other medical recommendations that can help better prepare a plan for early detection or prevention of that illness. In the case of genetic testing during pregnancy or for family planning, you will be given reproductive management and testing options. This information will be sent back to your doctor so that you can develop a care plan together.

What is a genetic counselor?

Genetic counselors are health care professionals that are trained to evaluate your personal and family medical histories, perform risk assessments, and order genetic testing. Our genetic counselors have degrees from certified genetic counseling programs and are licensed by the state to these services. They also work to ensure that they are up to date on the latest guidelines so that you can be sure you are receiving the best genetics care.

What do I need to know about genetics?

While a prior knowledge of genetics is not needed for a genetic counseling session, we have included some key genetic terms below to provide you with language that may be helpful to when discussing your family history with your provider.

• DNA – DNA is the set of instructions that tells your body how to work and grow. It is passed down from parents to children, which is why family members may look similar or have the same health conditions.
• Genetic Variant – DNA is made up of a series of letters, just like a set of instructions that you would read. And just like a set of written instructions, DNA can have misspellings called genetic variants.
• Disease-Causing Variant – These variants cause the instructions to not be read correctly, causing a genetic condition or an increased chance of developing cancer, among other things.
• Familial Variant – When DNA is passed down through families, these disease causing variants can be passed down too. We use the term familial variant to refer to disease-causing variants that have already been found in at least one family member.
• Positive Result – A positive result on a genetic test means that a disease causing variant was found.
• Negative Result – A negative result on a genetic test means that no disease causing variants were found.

Reasons someone may benefit from genetic counseling:

Personal and Family History of Cancer - Some families have an increased risk for developing cancer due to variants in their DNA that can be passed from parents to children. Knowing about inherited cancer risk can help individuals and their doctors make informed decisions regarding screening, surgery, and other medical management options to detect cancer early or prevent cancer. When someone in a family has a disease-causing variant found on a genetic test, their family member can get genetic testing to see if they also have the familial variant.  Besides cancer, some test results may be related to heart or blood diseases. Anyone who has a personal and/or family history that includes any of the following:

• Cancer diagnosed at an early age. Examples: breast, colorectal and uterine cancer diagnosed at 50 years old or younger. Ovarian, pancreatic, or metastatic prostate cancer diagnosed at any age.
• Multiple family members diagnosed with the same cancer
• Two or more types of cancer diagnosed in the same person
• Family member diagnosed with a hereditary cancer syndrome via genetic testing

Preconception and Prenatal - Genetic counseling and testing may be helpful for couples considering a pregnancy or who are currently pregnant and want to better understand the chance that their current or future pregnancy could have a genetic condition. Anyone considering pregnancy or currently pregnant may see a genetic counselor for any of the following:

• Genetic testing to determine the chance of having a pregnancy with a genetic condition known to be present in the family
• Carrier screening to determine their chance of having a pregnancy with a genetic condition not present in the family history
• Anyone with positive findings on a screening or diagnostic testing results performed during pregnancy

What to expect during a genetic counseling session

Genetic counseling sessions typically take between 1-2 hours. During this time, you will discuss your medical history and family history. To ensure you receive the most accurate assessment of your cancer risk, it's important to come prepared with your family history of cancer going back as far as three generations.

To help gather this relevant information about your family's history of cancer and determine your individual cancer risk, a questionnaire may be sent to you prior to your appointment. If a family member has had genetic testing, please try to send a copy of the genetic test report to the clinic in advance of the appointment. This will help the genetic counselors prepare for the appointment and determine genetic testing options. Based on the information provided, the counselor can tell you if you meet testing guidelines and how this impacts insurance coverage and the cost of testing. You can expect to see questions like:

• Has anyone in your family been diagnosed with two or more types of cancer?
• Do you have multiple family members that have been diagnosed with the same form of cancer?
• What age were family members diagnosed with cancer?
• At what ages did any family members pass away from cancer?

It's essential to not withhold any information you think might be beneficial to your counselor. Something that may seem minor to you could be a red flag for your counselor, who will in turn help you prevent and care for a potential cancer diagnosis. In addition to the initial assessment done during your first counseling session, our services may also include the following, depending on your location of care:

• Initial assessment: before your appointment, you'll meet with a genetic nurse practitioner to complete a thorough family history. Based on this history, the benefits and risks of genetic testing, possible test results, and how those results may affect you and your family are discussed at length.
  
• Genetic Testing - This is not right for everyone. If you do choose to have genetic testing done, a simple blood test is performed.
• Post-Test Education - Our staff will help you to understand your individual results, as well as the steps you'll need to take to care for yourself in the future.
• Ongoing Support - Once your assessment and or testing is complete, UnityPoint Health care teams are available to do everything possible to reduce your risk of developing cancer.