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Genetic Counselor Shares Insight into Growing Field at CIM Conference
Article by Rachel Guibert, Public Affairs
Teresa Kruisselbrink, M.S., C.G.C.
Receiving results from genetic testing can elicit a variety of reactions. Patients often wait anxiously to get the answers they are seeking. Unfortunately, sometimes, medical tests lead to more questions than they answer. Genetic counselors are in a unique position to help patients navigate the often complex and confusing web of tests that can lead them to an answer to their puzzling health problems.
At Individualizing Medicine 2016: Advancing Care Through Genomics, Teresa Kruisselbrink, M.S., C.G.C., a genetic counselor for the Mayo Clinic Center for Individualized Medicine, shared her experience with the testing process and gave a brief overview of working with patients in individualized medicine.
Kruisselbrink gave attendees a look at genetic counseling and whole exome sequencing from the patient’s perspective. Whole-exome testing sequences about 3 percent of a patient’s DNA – the part in which probably the majority of useful genetic information is located. Patients are informed before tests are run that while she always hopes to find the answer, DNA tests may not detect everything. She explains that if a patient goes into a test with high expectations, he or she could be devastated if no answers are found. Kruisselbrink says that only about 30 percent of patients have a diagnosis after whole exome sequencing.
With genetic testing, patients might open a door to information they’re not prepared to face. This unique challenge is one of the reasons we have genetic counselors. Genetic counselors (GCs) inform patients of the process, prepare them for difficult or unexpected results, manage expectations, and then offer guidance and resources for next steps.
Kruisselbrink discussed the unique challenges that clinicians and GCs face while navigating patient care and genetic information. Genetic test results have the potential to impact not only the primary patient, but entire families and future children as well. GCs are responsible for explaining the potential consequences before patients decide to open Pandora’s box.
During the breakout session, Kruisselbrink shared a case in which a mother was sad to learn that she had passed a genetic mutation on to her two children. This kind of information can lead to extreme emotional reactions from patients.
“Genetic counselors are trained to recognize and deal with patient reactions, but we are not counselors who provide ongoing services for psychotherapy,” says Kruisselbrink. “We try to provide resources for patients to get the support if needed.”
Kruisselbrink began working as a GC because of this unique relationship with science and patient care.
“It was a love of science and patients. I had just finished school and I thought about working as a doctor, a teacher, or I could work in a lab,” she says. “When I heard about this field, I learned I could have elements of all three.”
Kruisselbrink notes that the 70 percent of cases without a diagnosis will be referred on to Mayo Clinic researchers who will continue to probe and compare to cases worldwide in order to find an answer.
The Mayo Clinic Center for Individualized Medicine hosted the conference with support from the Satter Foundation.
You’ll want to save the date for next year’s Individualizing Medicine Conference. It will be held Oct. 9-11, 2017.
Learn more
- For a wrap up and summary of news related to the Individualizing Medicine Conference and the Mayo Clinic Center for Individualized Medicine , visit our blog, Facebook, LinkedIn or Twitter at @MayoClinicCIM.
Tags: #CIMCon16, #GeneticCounseling, #PrecisionMedicine, #rare diseases, #Teressa Kruisselbrink, center for individualized medicine, Genetic Testing, individualized medicine, mayo clinic, Uncategorized, whole exome sequencing