
- 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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Get StartedGenetics 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 8, 2008 5:54 p.m.
How do you find a reputable genetic testing service? I live in LA and I'm sure there are hundreds out there. Not looking for a bargain, but want to make sure of quality.
- John
October 8, 2008 4:44 p.m.
i joined 23andme a few months ago. it has been quit informative about my genetics.my ancestry, and my genes and possible future. its expensive but the more people they have to compare the better info they can put out.
- rondle
October 8, 2008 2:32 p.m.
Both of my children were adopted as infants. The information is scarce on their biological heritage. They are now adults. Will genetic testing fill in the background they do not have?
- Betty
October 8, 2008 1:53 p.m.
I've just been told that my sister has 2 splenic arterial aneurysms. Because of their sizes (2cm & 1 1/2cm) the doctor put a stent around them...she has told me that this could be genetic...what would you suggest I do?
- Kathy
October 8, 2008 11:55 a.m.
I recently lost my Mother to breast cancer, Five years ago her sister also died from Breast Cancer. Myself and three sisters are currently in a genetics program here in Newfoundland Canada but are having to wait a long time for each stage. We are still at the stage where the team is requesting medical charts and files on our Mother and her sister from all the hospitals they were treated at. Is there any faster way I can have this genetic testing done and does anyone know where? My referral was sent by my family doctor in January but, I have still not met with the genetics team to be screened myself or the blood work up done.
- Sandra
October 8, 2008 11:36 a.m.
My mother died from ung cancer. Both my oder brothers have had stage one cancer also in the lungs but had the cancer removed. My genentics course I took in college gives me uneasy feeling this may be a legacey from our mother so far chest xrays show no cancer..
- Charles
October 8, 2008 9:52 a.m.
My spouse has Seizures and we would like to know if he would pass this on to any children. He started to have the seizures when he was 18 yrs old. None of the doctors can tell us why he has them, and we would like to know more about his condition if that is possible. His grandfather had seizures but everyone in the family states it was because he was a diabetic. But no one knows for sure. I want to have children but I don’t want to knowingly pass seizures onto anyone especially a child.
- Christie
October 8, 2008 9:50 a.m.
My mother-in-law, husband and son all died of pancreatic cancer. My husband's sister also has a tumor on her pancreas. All have been advised their tumors were inoperable. Has it been determined that this condition is inherited or a predisposition has been inherited and, if so, is there a test to determine if my daughter has also inherited the gene?
- Helena
October 8, 2008 9:48 a.m.
Does tracing genealogy give one a hint of health problems that may be genetic? I found many deaths due to lung problems and heart problems in my family. Smoking may have affected the cause. Any connection between genetic testing and genealogy?
- bobs
October 8, 2008 9:02 a.m.
I am a stage 2 breast cancer survivor, I was diagnosed at 41 and now am being asked to do genetic testing because I am under 50, and had two types of cancer, triple negative and estrogen postive. But how accurate are the tests? And even if I carry the mutation its not a 100% that I will get more cancer...genetic testing "sounds" great, but I see risk, especially until its accurate, this gray area could cause more anxiety and harm. But I agree a personal and direct approach to medical care is better. Also, how do we protect the patient from discrimination from insurance companies? Many important parts still need to be decided and I am grateful to have Mayo to turn to, at least there is one medical group still reaching out to the masses with hope.
- Meg
October 8, 2008 8:33 a.m.
I think this is great, I would definately rather deter an illness through awareness of a possiblility. I understand that prevention of the illness is less expensive than treating the illness, this should help to lower insurance rates.
- Cathey/Texas
October 8, 2008 7:49 a.m.
Brain Aneurysm - My question/concern is that both my parents have had a brain aneurysm - Mom at 65yrs and Dad at 70yrs. Both did recover and were able to have a quality life - my question is should my 2 sisters and I have any testing and should our children have any screening? I have mentioned this to my Dr. and he does not seem to care or think anything needs to be done. Both my parents smoked and my dad was over weight and diabetic but otherwise were fairly healthy. Appreciate any advise you can share. thanks.
- Kathy D
October 8, 2008 6:42 a.m.
My wife at the age of 52 was diagnosed with a brain AVM which broke and gave a big hemorrage.We have two boys aged 30 and 34.Is there any genetic tests we could perform to find out if the AVM has been transmited to them?
- Dimitri P.
October 8, 2008 5:10 a.m.
I am writing in response to Mr. Elaine's allergy problem. He wrote "I have allergies to food, environmental, med. :" Few years ago I had problem of allergies where red spots appear on the whole body. I was told same; allergy to food, enviromenta etc. There was no success for years; once because of teath problem I was forced to take Calcium+Vit.c tablets; it was a miracle; that God gave me a new life; I was recovered instantly.
- Rana
October 8, 2008 5:03 a.m.
We have depression and anxiety in a big way running through both sides or our family. When became unwell, it took me five years to find the right medication to put it almost in remission. I would have loved to have access to a test that would help me identify a medicine earlier. Do you think this technology will be accessible and credible for my children?
- andrea
October 8, 2008 12:48 a.m.
I have allergies to:food, environmental, medications: I was tested at Mayo clinic, & have the Genetic CYP2D6*2*2 & told to find a Pharm D that specializes in drug toxcity, but have not had any success. very frustrating since I'm not sure what drugs to take. I have researched this online but need someone to guide me in this. I have totally avoided the drugs that have caused adverse reactions but have a hard time convincing the ER staff of my problem. any infor on this would be appreciated.
- Elaine
October 7, 2008 8:43 p.m.
I have Charcot-Marie-Tooth disorder as diagnosed at the Mayo Clinic in Scottsdale. I am 72 years old an did not have symptoms until I was about 55. They are confined to the periphery. How can I get genetic tests so i can properly advise my children?
- Bob
October 7, 2008 7:16 p.m.
Are you looking into extremely rare chromosome anomolies too? IE Trisomy 13-16 mosiac?
- Jeannie Jay
October 7, 2008 6:56 p.m.
I have had urticaria pigmentosis for 40 years,diegnosed at at10.sometimes it is better than others now is the worst ever! I have been in hospital 3 times this year with seemingly unrelated problems. urticaria how ever seems to tie it all together.
- lynn
October 7, 2008 6:09 p.m.
I see both sides of this issue. I have a robertsonian 13/14th translocation and prothrombin 20210 genetic mutation. I have been told by some doctors that I must have been adopted because none of my seven siblings do not have the promthombin gene.I was told it is virtually impossible that my siblings are my full siblings. However 4 of the 8 of us have the 13/14th translocation.My Father also had this translocation.This has caused much upset and questioning in my life. My parents (?) have been dead for many years but I just can't believe that my Mother isn't mine. She died from pulmonary emboli at 54. I had a DVT at 52. My daughter also has the prothrombin mutation. She's planning on starting a family in the next few years so will need to see a genetic counselor. My father had diabetes and now I'm prediabetic.So many questions may be answered but it also opens a lot of questions.I'm also very concerned regarding insurance. I've had drs tell me to never lose my group insurance because I will have a very hard time getting it on my own.
- Cathy
October 7, 2008 6:02 p.m.
My mom has eds. She was diagnosed by a client of hers by a doctor from sweden. She has a advanced type and my sister was tested and also has it. My moms hands are all black on the top from this disease. Should all my family be tested for this disease. Thank you
- sandy
October 7, 2008 5:09 p.m.
I find it very gratifying that genetic testing is become a reality. Both of my parents died at the age of 84. My mother COPD and my fatehr died of congental heart disease. As a woman in my 60's I am very aware of hear disease in women. My primary physician is a female cardiologist and interest but I feel she is not addessing agressively my doppler tests which showed heavy plaque in the neck arteries. Should I seek agressive like surgery for the condition
- Nancy
October 7, 2008 4:28 p.m.
I am wondering about cancer, and genetics, and the early detecting tests that can be done. My mother and father at age 80 died last year, and she starting at age 23, had breast, 40yr had utrine, 70??? Skin, and at 77yr tongue/throat, and lung cancer. Grandmother died of stomach cancer. Aunt had cancer and died also. I would like to know what options for testing and genetics I can pursue. I have a general family doctor that does not think it needed. I had to find an oncology doctor who took a deeper look at me to get treatment for my thyroid. Thank you for any Suggestions????
- Patricia
October 7, 2008 3:45 p.m.
My parents and my older brother passed away from heart disease. I know I have it and i wonder how young or old should I start testing my children and grandchildren to see if it is prevalent in their system.
- Dave Gaddy
October 7, 2008 3:20 p.m.
In 2004 my husband passed away suddenly at the age of 31. There were many warning signs, but he was diagnosed only after death with Hypertrophic Cardiomyopathy by autopsy AND with Long QT Syndrome Type 2 genetically. Each condition itself poses an independent 50/50 risk of inheritance to the three children that we share. Although my husbands DNA returned negative for HCM, it is only so because he had a mutation that is not yet discovered. I have elected to have my husband's DNA in a study at Harvard University which proposes to discover all of the genes causing HCM. This study is expected to take approx. 10 years. By then our children would still be in thier teens, and may benefit from any discoveries. 2/3 of our children have been diagnosed genetically with the mutation that causes Long QT syndrome. They have not displayed any of the symptoms related to the disorder as of yet. They are being treated medically for the condition, and our family has all been trained on how to operate a defibrillator, which we take everywhere. The mutation has an association with specific triggers for cardiac arrest, which we are careful to avoid. The knowledge of any genetic dispositions that my children have to two potentially fatal heart conditions is life changing. It has allowed me to protect my children as much as possible, and to avoid potential triggers for cardiac events. As a young widow and mother, genetic testing is a benefit that I am thankful for and will always support.
- Laurie
57 comments posted