- 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. 4, 2008
Welcome to the genetics blog
By Carrie A. Zabel, M.S., C.G.C.
Welcome to MayoClinic.com's new Genetics blog! I am excited to be able to facilitate this online discussion.
I can recall many professional lectures I attended which indicated that "genetics knowledge was coming at us like a freight train." Well, if that's true, then the freight train is moving faster than ever. Within the past week or so, I have read three popular press articles about DNA, individualized medicine and genetic testing — without even seeking them out. These were things that I randomly came across as I was reading the morning newspaper and while sitting in my local hair salon. The excitement about genetics is certainly surrounding us.
My training in genetics has focused on a traditional approach of single-gene inheritance, single genes which are passed on in families and either increase a person's susceptibility to disease or cause disease directly. However, these things only affect a minority of people. For example, although approximately 10 percent of individuals with cancer have an underlying strong genetic susceptibility to the disease, the majority of it occurs due to a combination of mild-to-moderate genetic susceptibility and environmental factors; we call this multifactorial inheritance.
Genetics today is taking a much broader look at disease and realizing that we need to identify these milder genetic factors to help you better understand your risk for common conditions (heart disease, diabetes, cancer) so that you may get appropriate screening, preventative treatment and be encouraged to lead a lifestyle that deters disease.
There are many genetic tests now available through genetics professionals, and even online, that offer an ability to help predict your risk of disease. I want to hear your thoughts on this. In my mind, this possibility is littered with challenging issues about how we will adapt as a society to "individualized medicine." Do you want to know your future risks? Will this knowledge encourage a healthier lifestyle? Will it increase health care costs? And, because the technology is so new, are the predictions even valid?
Again, I am truly excited to be navigating this discussion with you. My hope is that our discussions will not only benefit you, but also the medical community. I look forward to hearing from you.
57 comments posted
October 7, 2008 3:12 p.m.
Hi. I'm a first time blogger. My daughter has a connective-tissue disorder called Elhers Danlos Syndrome. I'm not sure if it is a single-gene inheritance genetic disorder; however, I was wondering if you knew of any studies focusing on collagen stimulation/growth in these patients. Or if you knew of any other families with EDS that blog on this site. Thank you.
- Kathyl
October 7, 2008 3:11 p.m.
Thanks to genetic testing, I found out that I had inherited a gene from both parents for gluten intolerance,not the celiac gene however. After years of irritable bowel symptoms as well as a myriad of other maladies, being gluten free for over a year has given me a chance ata somewhat normal life. Hooray for genetic testing.
- AS in MN
October 7, 2008 2:50 p.m.
where can a person be professinaly test?
- Sam
October 7, 2008 2:44 p.m.
While I think that genetics research and all of its wonderful findings are awe inspiring, I cannot help but fear the inevitable - Insurance Companies testing newborns as well as adults and immediately issuing lifetime blanket denials for everything that pops up. AND, companies in general demanding a "genetic CV" with your regular CV, just so they don't accidently hire someone who is genetically predisposed to say, diabetes or heart problems or alcoholism. THAT worries me considerably.
- Alexia
October 7, 2008 12:51 p.m.
Hurray for cutting edge technology in genetic testing as long as it is not used to discriminate. I have inherited and have passed on Myotonic Muscular Dystrophy that has been (from my research) in my family for a few generations. My daughter (32) also has it. Because of infertility pbs she and her husband had to go through in-vitro procedures this month. The fertilized eggs were tested within the first 5 days after fertilization for the gene that causes MMD and out of 23 only 7 were found to be disease free the percentage was about 69% versus the usual 50% risk of transmission for each pregnancy. The up side: this disease will stop with my daughter's generation, the down side : it cost $5000 to have the testing done by an embriologist specializing in this science and just as the invitro is not covered. I wish there was a way to share their results with researchers who might be interested in the information and willing to help defray some of the cost of the testing. I'm thankfull for researchers who dedicate their lives to working in this area of science and the contribution they make for families like ours. They will never know the total impact they have on others. tks
- Tilly
October 5, 2008 6:23 a.m.
Surviving the Shoa about e years ago I met a cousin I had not seen in over 60 years. He had diabetes and died as a consequence. From him I learned that 5 of our uncles died from the disease. Knowing this genetic familial horror I set to protect myself with diet, exercise and not taking medication raising glucose blood level. You bet I want to know all my genetic possibilities. I used to live in a paradise of fools not knowing my family medical history. Now I know. I wish Doctors would advise on diet and exercise but never do. Two medications that used to raise my glucose: Allopurinol for gout and Chlorothizide. Instead, diet and exercise helped me keep glucose levels back in the normal range.
- Albert
October 4, 2008 9:59 a.m.
My oldest grandchild has had recurrent high fevers for about four years. They come every 28 days like clockwork. She has stomach pain, nausea, headaches, muscle pain, over whelming fatigue, and usually vomiting at least once an episode. The good docs (and there have been many) think it is PFAPA or Familial Mediterranean Fever. Her test for FMF came back "fuzzy, positive." Every other test has come back negative. They say they cannot definitively diagnose this, If we really want to know what this is, we have to take her to NHI for bone marrow extraction and spinal tap, plus redo all the numerous tests she has already endured. Since I was 5, I have suffered from something very similar: Symmetrical joint pain, often severe. Chronic oral yeast infections. Fever – low grade as an adult, high fevers as a child. Rash especially on lower legs – Dx: one doc says lupus; one says eczema. Extremely dry eyes and sometimes the mouth. Cluster headaches that come and go. Chronic nausea and diarrhea. Extreme fatigue. Chronic blood in urine. Elevated SED rate, low IgG – underwent one year of IgG infusions. In the past five years, I have been diagnosed with: Peripheral Neuropathy in GI tract, left arm, both lower legs and feet. Degenerative arthritis – one knee replacement. Severe restless leg syndrome that flares every day, asleep or sitting. Gastro paresis – hospitalized twice for four days Could we both have FMF? Where can I get DNA test in Atlanta?
- FMF or PFAPA?
57 comments posted