Genetic testing and information help treat patients
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Genetic research has led to major advances in diagnosis and treatment. These advances have given patients more information to help fight disease. At Marshfield Clinic, the Department of Medical Genetics helps patients make sense of the genetic testing and information available to them and helps patients decide what genetic information they want to know.
"Our goal is to reduce anxiety," said Deepti Babu, M.S., one of three genetic counselors in the department. "Decisions are made jointly, with a lot of awareness and autonomy on the patient's part," added Sajid Merchant, M.S., another genetic counselor. "When they come in the door of the Medical Genetics Department, our patients have a lot of control about what's going on."
"What we do is try and empower patients by giving them non-directive information about what options are out there, what tests are available and what the natural history is of potential genetic conditions," Dr. Schowalter said.
Many traits and factors are determined by our genes, Merchant said. "Genes are the blueprints that code for obvious traits like eye color, and less obvious traits like propensity for certain disease."
Every person naturally carries mutations or alterations in his or her genes. In most cases, the mutations don't affect our lives. But in some cases, a mutation can have a large effect, including causing a disease, or giving us a predisposition to a disease.
Counseling expectant parents is just one part of the services available through Medical Genetics. "Children with subtle distinctive features, which might be an indication of an underlying genetic condition, are also referred for evaluation in a medical genetics clinic," said Dr. Schowalter. "We also see older individuals who are at risk for adult onset conditions," he continued.
Some patients who seek counseling as adults have symptoms and seek a genetic test to confirm a diagnosis. Bradley Hiner, M.D., is a neurologist at Marshfield Clinic-Marshfield Center. He specializes in movement disorders, including Parkinson's Disease. "If a person comes in with certain symptoms, we do a physical exam to narrow the search for the cause of the movement disorder," he said. "Once we've narrowed the search, some genetic tests are available to confirm the diagnosis." That confirmation can make a difference in the course of treatment and in the effect on other family members, Dr. Hiner said.
