- 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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Oct. 14, 2008
Genetic counseling, testing available
By Carrie A. Zabel, M.S., C.G.C.
Thank you to all for sharing your personal experiences and stories about how genetics has personally touched your lives.
While I would love to respond to each of your individual situations, the complexity of your stories prohibits me from doing so. However, I was happy to see that many conversations occurred between readers; I would encourage you to continue this activity. Much genetic expertise is drawn from experience, and you never know who you might connect with when you share your story online.
In reviewing the comments, I noted that several of you were interested in genetic counseling for a health condition. If you would like genetic counseling by a professional, you can use one of two resources. The links are listed below as "Web resources."
The first, the National Society of Genetic Counselors, has a "find a counselor" feature which will allow you to enter your zip code and locate a genetic counselor in your respective area.
If you require a diagnosis or more than genetic counseling for a given family history or condition, I would encourage you to visit the second link, GeneTests. There you can locate a genetics clinic. A medical geneticist can then evaluate your past medical history, family history, and current symptoms in hopes of providing a unifying genetic diagnosis for you.
Several of you mentioned insurance discrimination. The U.S. government recently signed the Genetic Information Non-Discrimination Act (GINA) into effect, effective May 2009. You can find more information regarding this bill at the link below. I want to know if you believe GINA provides adequate protection, as much of the health-care community believes that the threat of genetic discrimination has been inflated by the media. Please share your thoughts and past experience so that we may all navigate this rapidly changing frontier together.
4 comments posted
October 14, 2009 6:15 p.m.
hi my husband was just diagnosed with mthfr c677t and a1298c we live in las vegas( I work at st rose siena) and beside the diagnosis no one including our pathologist has ever heard of this i've tried to find info but i'm just an or tech with limited knowledge. please help. he's normally a healthly ballplayer thats had no previous surgeries or injuries but is clotting like crazy and his inr/ppt is between 1.4/2.0 on 10 of coumadin and framin injection in the stomach. he was admitted for 4 days the set home. our primary said he can go back to work but i'm worried
- lyn espinosa
October 2, 2009 9:36 a.m.
Colleen, Many states, including WI, do a preliminary screen for Cystic Fibrosis (CF) as part of the newborn screening process. This is typically NOT definitive for CF, UNLESS two mutations are identified by the gene test. Usually only one mutation is found, meaning the child is likely a carrier of the condition, but will not experience any symptoms. It is thought that 1 in 25 people are a carrier of this condition, so it's not an uncommon finding. If your nephew had only one gene mutation found, they will be referred to a center which performs diagnostic testing for CF. This is done through a sweat test where they attach little heat electrodes to the inside of the baby's arms, collect the sweat that's produced, and measure it's chloride concentration. We know that individuals who have CF have a higher chloride concentration in their sweat. You won't have a complete answer about whether or not your nephew has CF until this part of the testing process is complete, but 90% of babies who have only one gene mutation identified via the newborn screen turn out to only be carriers and not have the disease. Unfortunately, your negative family history of this condition doesn't really help us to determine whether or not he may have CF.
- No name given
October 1, 2009 9:40 p.m.
My nephew is 10 days old born 9/20/09. My brother has not been told he has tested positive for the CF gene for cystic fibrosis and has CF off a newborn genetic screening test used in Wisconsin no other testing has been done yet. How definitive is this test. No one in my three generations of family either side his or hers has it seems unbelievable what is your opinion on the subject wondering where to turn? Thanks, Colleen
- Colleen
January 8, 2009 11:13 a.m.
I'm the Stevens-Johnson victim. I think this allergic reaction can happen to anyone. I would like to be genetically tested to help prevent this from attack my family. It almost killed me, because it is suppose to be very rare. However, I think it's happening more often for when you read people,s stories on the web they are having the same misdiagnosis that I have suffered. Each episode has left me with scars. I am lucky that I lived through it, but I don't know how many times I can keep surviving it, since doctors think it is so rare and continue to doubt my reactions. When they can't explain it they use the mental problems for the answer. These are my results from the several episodes I have experienced: hypersenitivty to environment, even in my house.mouth scars. private area scarred, loss hair on large part of body, so far not head. Bumps in head from last episode. breathing difficulty. swelling in throat and neck for 4 years. esophagus constricted, gets strecthed every 4 months or so. leg cramps. stomach burned so nausea often. hives for months at a time. hands and feet numb and wake up. severe acid reflux. itchy skin.I've had to buy chemical free products. My nose can smell many times the normal. I think this auto-immune problem runs in my family. My son was diagnosed with Myasthenis gravis at 18. My eldest daughter has had mono 4 times. She's had a SJS as a child. The second episode can be fatal. Everyone should be aware of this reaction.
- vicki SC
4 comments posted