- With Mayo Clinic genetic counselor
Carrie A. Zabel, M.S., C.G.C.
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Carrie A. Zabel, M.S., C.G.C.
Carrie A. Zabel, M.S., C.G.C.
"We must begin now to prepare for the future; we cannot wait until the details are known or fully understood."*
— David B. Schowalter, M.D., Ph.D., former Mayo geneticist, (*posthumous)
Carrie A. Zabel, M.S., C.G.C., is a board-certified genetic counselor who specializes in hereditary cancer syndromes. One of her main professional interests is the family medical history.
"Recognizing features in the family history which may suggest an underlying single gene disorder can have a huge impact on families," she says. "Identifying a genetic susceptibility gene can allow family members to more accurately understand their risk of disease and empower those who have an increased genetic susceptibility to take control of their medical management and lifestyle factors which may influence this risk."
She received her B.S. in biology from the University of Wisconsin-La Crosse in 2002 and M.S. in genetic counseling from the University of Minnesota in 2004.
She was a clinical genetic counselor at the Marshfield Clinic in Marshfield, Wis., before joining Mayo Clinic in August 2006 as a genetic counselor and educator for the grant-funded Mayo Eisenberg Genomics Education Program. During her time in Wisconsin, she was also an active member of the metabolic subcommittee of the state Newborn Screening Program and co-facilitated a phenylketonuria clinic.
At Mayo Clinic, she provides physician and staff education about clinically relevant topics in genomics. She also manages multiple education projects championed by Mayo Clinic physicians and is a faculty member for Mayo Medical School. In addition to her education roles, she sees adult patients in the Department of Medical Genetics.
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Genetics blog
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Nov. 10, 2009
Series of tests identifies cystic fibrosis
By Carrie A. Zabel, M.S., C.G.C.
Coming home with your new baby is supposed to be an exciting time. Unfortunately, some families' excitement is disrupted by a phone call indicating that their baby had an abnormal newborn screening test for cystic fibrosis (CF). What does this mean? Does your baby have cystic fibrosis? What are the next steps?
First, it's important to know that the vast majority of babies who have an abnormal newborn screen for cystic fibrosis will not end up having this chronic condition. Many states do a preliminary screen by testing the levels of a specific chemical in the baby's blood. If the level is abnormal, genetic testing will be done to determine if the child has any genetic mutations associated with cystic fibrosis. Usually, only one mutation is found.
Cystic fibrosis is an autosomal recessive condition, meaning that an individual with the condition has to have two genetic mutations, one of which is inherited from each parent. An individual who has one genetic mutation is called a "carrier." Carriers do not have any symptoms of the disease and, actually, 4 percent of the population with Northern European ancestry fall into this category. The carrier rate for other ancestries varies, but cystic fibrosis affects all ethnic groups.
Unfortunately, our genetic testing isn't perfect. Therefore, if your child is identified to be a carrier, you will likely get referred to a center which has experience in diagnostic testing for cystic fibrosis. This is done by a sweat test. A sweat test involves attaching little heat electrodes to the inside of the baby's arms, collecting the sweat that's produced, and measuring the chloride concentration. Ideally, you will also meet with a genetic counselor to explain the process and answer questions.
Fortunately, in 90 percent of these cases, the baby's test results end up being normal — they do not have cystic fibrosis and will not experience any of the symptoms associated with the condition. Please, share your thoughts and experiences.
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