Who should have genetic testing? Which testing option is best for each individual? These are all questions that genetic counselors can answer. They play a key role in educating patients and physicians about how genetic testing can be used to guide medical care.

“Mayo Clinic genetic counselors are those members of the health care team who are specially trained to guide patients through the testing process,” says Joan Steyermark, supervisor of the Mayo Clinic genetic counseling team in the Department of Clinical Genomics. “Our goal is to empower patients and their families by providing information and support to help them understand their family history, evaluate genetic testing options and make informed health care decisions based on test results.”

There are many reasons a patient may undergo genetic testing. Patients with rare and undiagnosed diseases are looking for answers to the causes of their symptoms. Couples or expectant parents may consider prenatal testing to determine if their baby may be at risk for an inherited disease. Others with a family history of disease may choose genetic testing to identify their own risk.

“While genetic testing may help provide answers and is an important component of individualized care, the prospect of going through the testing process may seem daunting,” says Steyermark. “That’s why it is important that patients meet with a genetic counselor when considering testing.”

“Our goal is to empower patients and their families by providing information and support to help them understand their family history, evaluate genetic testing options and make informed health care decisions based on test results.”

Joan Steyermark

Steyermark and her team work closely with physicians and researchers in the Mayo Clinic Center for Individualized Medicine to help patients with rare and undiagnosed diseases, many who have searched for years for the cause of their symptoms. They also meet with cancer patients and those with kidney, heart and pulmonary disease. 

In addition, genetic counselors see healthy individuals to review predictive testing options that may allow early identification of genetic risks.

What can patients expect from a genetic counselor?

“We begin sessions by talking with patients to learn what their goals are and why they are considering genetic testing, as well as what concerns they may have,” says Sarah Kroc, a Mayo Clinic genetic counselor on Steyermark’s team.

Next, patients are guided through these steps:

• Family medical history: Counselors take a three-generation family history to identify potential hereditary diseases or risk for disease that run in the family.
• Risk assessment: Based on a patient’s medical history and their family medical history, counselors identify the likelihood that patients may have a genetic mutation linked to their current condition or future risk for disease.
• Review of genetic testing options: Counselors highlight the testing options available, reviewing the benefits and limitations of each test. They also discuss how a positive test result, meaning a significant genetic variation has been identified, may affect the patient’s current or future medical care as well as the care of their family members.

Throughout the process, counselors encourage patients to take their time in deciding on whether or not to pursue genetic testing.

As Jessica Tarnowski, another genetic counselor on the team explains, “We recognize that genetic testing is not just another laboratory test. It is one of the most personal tests that patients can have because it uncovers the genetic traits that make each person unique.”

What happens after genetic testing?

After testing, the counselors notify patients about test results, collaborating with each patient’s health care team if a significant genetic variation is identified.

“We work closely with physicians to help them understand how a patient’s test results may impact management of their current care or prompt the need for further screening,” says Steyermark.

The team of counselors also monitor guidelines for genetic testing, notifying physicians when a new test is available that may improve diagnosis or help identify targeted treatments for a specific disease.

“Our genetic counselors see patients as human beings – not illnesses,” says Steyermark. “They are focused on providing the best medical care and guidance to each patient, every day.”

In addition to the clinical setting, genetic counselors can work in a variety of other areas, including the laboratory, research, advocacy and public health. Mayo Clinic employs over 50 genetic counselors across multiple areas of practice.

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