
- 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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Sept. 5, 2009
Predictive genetic testing: What are the risks?
By Carrie A. Zabel, M.S., C.G.C.
What if you could predict your medical future? Would you want to know? The answer to this question may depend on many factors, such as the availability of treatment or preventive strategies. But, what if your future contained an untreatable and devastating neurological condition that would almost certainly leave you unable to care for yourself and your family?
Alzheimer's disease is the most common cause of dementia in older adults. It's currently irreversible and progressive; an individual with Alzheimer's disease slowly loses their memory and thinking skills. Eventually, they will lose the ability to carry out even simple tasks. A recent study published by Harvard scientists, including Dr. Robert Green, examined the effects, both risks and benefits of predictive genetic testing for Alzheimer's disease on a small group of patients.
This genetic test, APOE, can provide information on your risk of developing Alzheimer's. A person may have several variations of this gene; individuals who have two genetic variants called APOE4 are significantly more likely than an individual in the general population to develop the disease.
Many in the medical community have been concerned about the effects that predictive genetic testing could have on a person's psychological well-being and therefore, testing has been discouraged. However, Dr. Green's study showed that study participants actually adapted relatively well to this information. Participants who received their results did not appear to have more anxiety, depression or distress related to receiving this information compared to those who did not receive their results.
What do you think? Would you want to know? Should the medical community reconsider their stance in discouraging predictive genetic testing for Alzheimer's disease? Please share your thoughts and experiences.
21 comments posted
January 29, 2010 12:31 p.m.
My mother and sister have a form of dementia we think is Alzheimer's. My mother is 77 and my sister is 55. I think it is ridiculous to stick your head in the sand if you carry the gene. Early treatment can be enormously helpful and give HOPE for heaven sake. We need this genetic testing despertely!!!!!!
- Susan
January 13, 2010 5:48 p.m.
I am 25 years old and my 59 year-old father is now moving into an assisted living facility exclusively for memory care patients. His mother died from the disease and we think my father has had Alzheimer's for about 8 years now. I want to get genetic testing so I can stay informed and hopefully help researchers stop this horrible disease. I will definitely pursue genetic counseling before and after testing. This disease is breaking my family, and my thoughts are with everyone that has responded to this article. Pray for a cure.
- Lucy
January 11, 2010 11:57 a.m.
Do you have any information on testing for Jewish genetic disorders on your website?
- Karen
December 5, 2009 9:14 a.m.
I think an individual has the right to know what their future could be so planning and preparation are in order. My personal observation is that those for whom the possibility of devastation due to knowledge are also those least likely to seek such knowledge in the first place.
- Joy
November 12, 2009 9:41 a.m.
Hi Nanayaa, Have both you and your partner had carrier testing for sickle cell trait? If so, what were the results? I think visiting with a genetic counselor could be very helpful for your situation. To locate a genetic counselor in your area, go to www.nsgc.org and click on Resources - Find a counselor.
- Carrie Zabel
November 11, 2009 3:21 p.m.
is there a prenatal test to detect sickle cell anaemia? my partner and i would be grateful to know if we have such an option. thanks
- nanayaa
October 19, 2009 9:12 a.m.
I lost my brother Bill from liver cancer caused by hemochromatosis. I am a compound heterozygote. Due to the high number of people affected, I think there should be universal screening. As many as 1.2 million Americans could have this disease. We screen for breast cancer??? Why not this disease? My brpthers iron levels were over 4000 ng/ml. Mine were slightly over 75. We watch my iron levels. If it wasn't for my older brother dying from this disease, many more in the family might have problems. Our whole family has had the DNA tests, and most were good. Only one other has tested heterozygous.
- George
October 16, 2009 12:41 p.m.
yes 62yrs old
- bonnie
October 7, 2009 3:48 p.m.
Audrey I completley agree with you and think it is the best way to go about the situation. Alzheimers runs in my family as well and I would like to know in adance to prepare myself and my family for it. It is expensive to continue to see doctors and to find out early on and try to cut those down would be very beneficial.
- katie
October 7, 2009 3:43 p.m.
Blanch-what if having that information could help you and your family? In being porepared or taking certain precautions...isn't that something that you would be interested in? You said your mother has it so why would you not want to be informed?
- Katie
October 7, 2009 3:24 p.m.
I believe that genetic screening is a great idea. If it can eventually save lives and prevent diseases from even occuring what is the problem? Why not save yourself or your family members from the pain and anguish that comes along with most diseases?
- Katie
September 14, 2009 8:07 p.m.
I think genetic screening is fine as long as there is scientific evidence to back the claims made by companies doing them. There are a lot of DTC companies out there that make "outrageous" claims about some of their products. There are certain genetic markers that can determine if you are able to tolerate certain medications, etc. Especially things like chemotherapy could be deadly for patients with certain genetic makeup. There are a lot of reports that have confirmed the validity of such testing (see link). Unfortunately, these kinds of tests are not always done because insurance/medicare do not cover them. http://www.oncogenetics.org/web/genetic-testi
ng-may-be-valuable-in-treating-colorectal-can cer - Rupert
September 10, 2009 1:24 p.m.
Yes, I would want to know if I had Alzheimer's. As a retired nurse, I would attempt to work on a plan while able for my care later in the disease process so my family would not have all the stress or bankrupt them. I know there is no easy way out since I'm going through it with my mom.
- Audrey
September 9, 2009 10:06 p.m.
How can we be protected from genetic testing that "profiles" us for certain diseases/disorders (ie alzheimers, et al), and then the insurance companies cut us off at 40 years of age? Regardless of your political views, we need basic healthcare guaranteed. Go ahead and blast me for saying this, however I'm not going away.
- Earl
September 9, 2009 7:35 p.m.
The more knowledge you have about your future health more power to you.It all depends what you want to do with that information it's never about how many years left but what you do with those years that counts.
- david
September 8, 2009 10:30 p.m.
My mother had it so I'm familiar with the suffering of everyone involved. The only time I would be interested in knowing is when they find a cure. In the meantime I will keep myself informed
- Blanch
September 8, 2009 10:20 p.m.
IF, i had the test and they found the markers for dementia, of any kind, I would go through the mental anguish and then start to get over it. I would stop cleaning house, I would stop worrying about politics, I would focus on what I want to leave for my grandchildren. I would, therefore, get my oil paints and canvas's out and start working on all the paintings I have envisioned, but have been too procrastinating over. I would line up pitchers, trays, and all the other white china/blank china I have and I would get high behind all those legacy works of art that I have dreamt and envisioned and lusted over and over in my mind. Yes, I would have an urgent reason to fulfill those longed for moments with brush in hand, so that my grandchildren would be able to say, "my grandmother painted that for me," and I am the luckiest person, because she was very talented. I have been "retired" for 2 years and have very little to show for all those waking hours, when I could and should have been busying myself with the teaching china painting again. Now my loop hole-I HOPE. The Lord will keep me in perfect peace, when my mind is stayed on Him.
- sally
September 8, 2009 10:11 p.m.
My parents both passed for different reasons,if they succumbed from something preventable with this years technology why wouldn't I want to pursue medical support and life style to extend my life span beyond what my parents expierenced. Unless there was a great deal of discomfort.Live life to the fullest with all that makes you and yours happy
- John
September 8, 2009 6:28 p.m.
I definitely would NOT want to know. I would be terribly depressed if I knew I had a gene for Alzheimer's. I already have written into my health care directive that I NOT be given any life support, including antibiotics, if I get Alzheimer's. I think genetic testing is scary. Thanks.
- Sylvia
September 8, 2009 3:18 p.m.
My mother had Alzheimers and wasted away in a nursing home for over 10 years. If I would find out this I had it, I would kill myself.
- Lee
September 6, 2009 2:37 p.m.
Genetic testing for Alzheimer's disease is a good idea. If the genetic test indicates the disease, the individual should keep their mind active. There is Alzheimer's disease on both my side of the family and on my husbands. My children keep their minds active and so do my husband and I.
- Karen
21 comments posted