September 14, 2016

Navigating a Genetic Maze for Clues to Solve a Mystery: The challenges and rewards of genetic counseling

By Sharon Rosen

dna-strand-blue-wpArticle by Colette Rector, Public Affairs

Updated Nov. 2018

All of us walk around with billions of pieces of genetic information stored in our DNA. This information explains everything from our eye color to the shapes of our faces to the length of our bones. If sequenced and understood, genetics can also point to the source of some diseases. However, very few people have the power on their own to understand these invisible characteristics that lie in and beneath their skin.

That’s where genetic counselors come in. These unique professionals help people understand the data stored in their genes and whether they want to explore their genetic blueprint for clues to current or future health conditions.

Teresa Kruisselbrink, M.S., Certified Genetic Counselor, works as a genetic counselor for the Mayo Clinic Center for Individualized Medicine. She is one of over 50 genetic counselors who work in a variety of departments throughout Mayo Clinic.

As Kruisselbrink explains, one area of focus for genetic counselors is helping patients and families who have spent years in doctors’ offices and exam rooms searching for answers to puzzling health problems. This is known as the diagnostic odyssey; because their conditions are so rare, they go undiagnosed.

Teresa Kruisselbrink, M.S.

Teresa Kruisselbrink, M.S.

“Patients are often frustrated having had multiple tests in the past that did not reveal an answer," Kruisselbrink says. “We then take a unique approach to solving the mystery of their illnesses by looking broadly across the genetic code at all known genes that can cause genetic conditions. This approach is called whole exome sequencing.”

The diagnostic odyssey begins with a visit with a medical geneticist, followed by a visit with a genetic counselor.  Their role is to help patients understand what the testing entails and the possible findings. Once results are back, she helps interpret them and explains their meaning.

Interpreting complex genetic information can be challenging and time consuming. Fortunately, genetic counselors are part of a team and don't have to do this alone. Once results are back from the laboratory, they are reviewed by the Genomic Odyssey Board, an interdisciplinary group of experts who take a broad approach to probe deeper into the patient’s condition and family history in search of an answer. The group brings together medical and research experts from many specialty areas of Mayo Clinic to fully review and discuss laboratory results. The answer is found in about one out of every three cases when using whole exome sequencing.

“The best-case scenario is that we find out what’s wrong and then can recommend treatment for that disease or condition,” Kruisselbrink says. “If there is no known treatment, even finding an answer can be a relief.”

The need for genetic counselors like Kruisselbrink grows exponentially as precision medicine — shaping care to a patient’s unique traits — becomes more integrated into medical practice. The role is extremely important to helping patients navigate challenging medical decisions. Through these conversations, she helps patients understand their complex genetic information and make informed decisions that best meet their personal needs and values.

“It’s extremely rewarding to be trusted with this information and then help relieve patients of the frustration of the unknown,” she says. “I went into genetic counseling because I wanted to help people, and this is how I get to do it.”

While being a genetic counselor can be very rewarding, there are also challenges. In some cases, despite comprehensive testing, an answer to health questions in not found. Other times the diagnosis is made, but the condition may not be treatable or is terminal. Patients and their families must be counseled through that reality.

While understanding your genes can be a powerful resource, it can also pose ethical dilemmas. For example, should you learn about risk for medical issues later in life? Would knowing help you plan for the future, or would it just cause unnecessary anxiety? Would it influence your decision to have children? Genetic counselors help patients understand what they might find in their DNA and how that will impact their lives.

There are a variety of opportunities in many areas of health care for people interested in becoming a genetic counselor. For example, at Mayo Clinic, the counselors in the following departments perform these activities as part of their roles in patient care:

  • Obstetrics and Gynecology – educate expectant parents on a variety of topics including screening for certain fetal conditions and counsel patients who have abnormal test results or findings from an ultrasound
  • Clinical Genomics – involved in direct patient care to focus on hereditary cancer, neurodegenerative conditions, hereditary heart conditions and a variety of other genetic-based medical conditions in both pediatric and adult populations
  • Laboratory Medicine and Pathology – provide guidance and education to health care providers when ordering, interpreting, and utilizing the results of the variety of genetic tests offered by the diagnostic laboratory

Genetic counseling is a small, yet growing field that continues to play an important role in delivering excellent care to patients with genetic-based diseases. Mayo Clinic genetic counselors are at the leading edge of Mayo’s efforts to bring individualized medicine to patients in new ways.


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Tags: #Careers in genetic counseling, #Diagnostic Odyssey Clinic, #DNA analysis, #Genetic diseases, #Genomics data, center for individualized medicine, DNA Sequencing, Genetic Counselors, mayo clinic, Precision Medicine, Teresa Kruisselbrink, Uncategorized

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