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August 10th, 2015

Certified Genetic Counselor: Educator, Adviser, Ally

By Jeff Briggs

Counselor PatientWhen a person comes to the Mayo Clinic Center for Individualized Medicine, one of the most important people he or she will meet is a certified genetic counselor (CGC). But what is a certified genetic counselor and why is that person important to the care and treatment a patient will receive at CIM?

Specialists who have expertise in both medical genetics and counseling, certified genetic counselors are members of the health care team. They work with individuals and families at risk for, or diagnosed with, a variety of genetic conditions. Genetic counselors also collect and interpret family history information, order and interpret genetic tests, educate about genetic disorders, provide supportive counseling, and serve as an advocate for the patient.

From explanation of test results to providing an initial emotional and psychosocial safety net to referral for a range of follow-up services, the role of genetic counselor cannot be underestimated.

Recently we asked two of CIM’s certified genetic counselors, Kimberly Guthrie, MS, CGC, and Jessica Jackson, MS, CGC, to address the role of the certified genetic counselor at CIM. Here are their responses.

Kimberly Guthrie, MS, CGC

Kimberly Guthrie, MS, CGC

Who are genetic counselors?
Genetic counselors are health care professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Generally, genetic counselors enter the field from a variety of undergraduate disciplines such as biology, genetics, nursing, psychology, public health, and social work. Genetic counselors are trained to help people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.

Do genetic counselors have specialties?
Yes. Some genetic counselors work in a clinical setting and interact directly with patients. Clinical genetic counselors may specialize in seeing a certain population of patients, such as pregnant women at risk for having a child with a genetic condition, or patients with cancer who are suspected of having a hereditary form of cancer. Genetic counselors help patients understand the medical question at hand and the genetic testing options that are available. Genetic counselors often act as guides for patients, helping them understand the meaning both for themselves and their family members of the different types of possible results that one may receive from genetic testing.

Jessica Jackson, MS, CGC

Jessica Jackson, MS, CGC

Genetic counselors may also work in a variety of other settings, including: the laboratory, research, pharmaceuticals, public health, health care consulting, marking and product development as well as policy development and advocacy.

What is the role of the genetic counselor at the Center for Individualized Medicine?
Genetic counselors working within CIM are part of a large team that helps to integrate genomic medicine into clinical practice. Some genetic counselors within CIM work directly with patients to help them understand the benefits and limitations of the specialized genetic testing that is being offered. This includes discussing some of the basics of genetics and walking the patient through the process of genetic testing. Many times the first time you meet with a genetic counselor it is a discussion of “what ifs?” What if the testing finds something? What does that mean for me, for my children, for the rest of my family? What if the test doesn’t find anything? Will the test tell me all of the disease I might get?

Genetic counselors also help patients navigate the more practical aspects of an evaluation including a discussion of insurance coverage and helping patients obtain authorization for genetic testing if required by the insurance company. Genetic counselors at CIM also follow-up with patients to discuss the results of testing once they are available. At CIM, Mayo’s genetic counselors provide education and support through each step of the genetic testing process so that patients can make decisions about genetic testing that align with their goals and values as an individual and as a family.

Genetic counselors also support other programs within CIM, including the Mayo Clinic Biobank. In this setting, the genetic counselor provides input regarding patient centered issues such as consent, return of results and participates in community engagement to ensure the public’s opinion is represented.

How does the genetic counselor work with the attending physician?
Genetic counselors work as a member of the health care team. In some cases, they will work with the attending physician to determine the most appropriate testing strategy. They keep the other physicians caring for the patient informed of the outcome of genetic test results. They can be resources for physicians about appropriate genetics referrals and can provide input on genetic testing strategies.

How can genetic counselors help maximize patient care?
Genetic counselors serve as resources both for patients and for other health care providers. They enhance the patient experience by providing the patient the opportunity to thoroughly discuss the pros and cons of testing before testing and the implications of test results after testing. Often genetic counselors spend an hour with a patient at the first visit discussing any questions the patient may have about genetic testing. Genetic counselors also help newly diagnosed patients understand the implications for themselves and their family and can connect them with other individuals and families through support groups for specific genetic conditions.

Does the genetic counselor impact costs?
Genetic counseling visits may or may not be covered by insurance. Patients can check with their health insurance to see if the cost of a visit is covered. The cost of a genetic counseling visit is separate from the cost of genetic testing.

Genetic counselors are trained in genetics which allows them to select the most appropriate test given the clinical situation. For instance, a patient comes to clinic because her sister who had breast cancer was found to have a mutation in the BRCA2 gene. She knows she has a 50 percent chance to have the same mutation as her sister based on the information her sister’s genetic counselor gave her. She would like to have testing. In this instance, she could be tested for the specific DNA change or mutation found in her sister. She does not need to have the entire gene sequenced which costs around $1000 more than looking for the specific DNA change known to be in the family.

Counselor Patient 2Are genetic counselors involved in test selection?
Yes. There are currently thousands of genetic tests available, and it can be difficult to choose which genetic test is most appropriate for each patient. Genetic counselors are trained to select the most appropriate test based on family and personal medical history. Some genetic conditions have multiple genes which may cause disease. Genetic counselors can help determine if testing for one gene or multiple genes simultaneously is necessary or more cost efficient for the patient. Although the availability of genetic testing is increasing exponentially, no one genetic test can test for all genetic disorders. Therefore, test selection is a crucial component to the genetic counseling process. A growing number of counselors support test utilization management systems within institutions. This often involves review of the genetic test order to ensure that appropriate testing is ordered and may also include an insurance investigation to determine coverage for the requested test. This can lead to significant cost savings to the institution.

Why is genetic testing important to heath care?
Genetic testing may allow health care professionals to personalize that individual’s or the family’s management and treatment by clarifying disease risk in the family. If an individual has a certain gene mutation or test result, we may be able to offer screening, management, or treatment to prevent future health complications.

Additionally, genetic testing can provide information about recurrence risks to family members or future generations. Reproductive technology has advanced to allow for prenatal diagnosis and/or preimplantation diagnosis to reduce or eliminate the risk of recurrence in families.

How else do genetic counselors help maximize patient care?
Genetic counselors are often able to identify outside resources such as support groups, online chat groups, educational conferences/meetings, or informative literature which may help the patient cope with having a genetic diagnosis. We also can assist with teaching the patient ways to share their genetic information with family members if necessary. We understand that receiving a positive test result or learning of a genetic condition may impact family planning, personal relationships, long-term medical management, and anxiety. Genetic counselors encourage patients to ask questions and reach out for support when necessary.

Tags: center for individualized medicine, certified genetic counselors, CGC, Genetic Counseling, Genetic Counselors, IndividualizedMedicine, personalized medicine, Precision Medicine, Uncategorized

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