- 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.
3 comments posted
November 19, 2009 2:26 p.m.
My oldest child, weighing 5lb 15 oz was sent from our local hospital to childrens hospital in pittsburgh, pa when she was only hours old. I couldn't go with her cause my dr would not release me. They found the cystic fibrosis with the sweat test on her leg.I was told hre life expectancy was 12. Six and a half weeks later she was able to come home weighing 5 lbs. She was the light of my life. Unfortunately I lost her at age 3 in dec of 1987. Since then I have been blessed with 6 more children-I had each one tested immediately and none of them has the c f. So I came to deal with her death that God took her home with him to spare her the pain the pain and suffering. But after all these years I still shed tears everyday and I miss her. Our high school coach has 2 boys with c.f. and I worked with a guy that has 2 girls with c.f. They have learned so much more about this awful disease. I pray daily that these poor children suffering will soon have a cure to rid them of this disease.
- tracy
November 13, 2009 5:16 p.m.
Su - Just want to let you know that my brother in law has CF and just celebrated his 52nd birthday. :) Can't imagine how much more they have learned since he was diagnosed in 1957. I am sure there are so many more treatments available now. All the best to you and yours. Eileen
- Eileen
November 11, 2009 3:47 p.m.
Before our child was diagnosed with Cystic Fibrosis, there were symptoms for example if you tasted her skin it was very salty. As a toddler she developed a large tummy like the starving 3rd world children. Stools were very loose and oily. These went away with medication and treatment. Make certain you only have the sweat test done at a certified Cystic Fibrosis hospital center. Our small community hospital did the test and made errors as they had no experience with CF. When our pediatrician said their negative results could not be true, he sent us to Chicago Children's Memorial and her salt content was extremely high, not below normal.
- Su
3 comments posted