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Genetics blog

With Mayo Clinic genetic counselor Carrie A. Zabel, M.S., C.G.C.

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October 4, 2008

Welcome to the genetics blog

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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.

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49 comments posted

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January 4, 2009 7:31 a.m.

I have a 10 year old daughter. She may be 10 but at times acts like she is 6. She has a few other medical problems like Spinal bifida occulta, right ectopic kidney and liver, bladder to big for her body and wears hearing aids. She does a lot of things that are just out of the ordinary as I do have another daughter the is one year youger than her and is progressing very normal. My older one is also on an (IEP, Individual Educational Program) at school and just overall different. Sometimes I wonder if she is mild downs syndrom due to her eyes. We are going for our first genetic testing in February 2009, does anyone know if downs will show if this is the case. I know nothing of this test and am trying to find more information on this.

- Christinne (London Ontario)

December 10, 2008 4:32 p.m.

Wish there was a way to be informed if our comment is responded to. Can you make that possible? Just realized Bob may never read my comments, sad!

- LaNavi

December 10, 2008 4:27 p.m.

Hey Bob with Charcot Marie Tooth - We too have the CMT gene; lots of variety of deafness too. Do you have any known deafness in your family? How did they diagnose? Muscle biopsy? Ouch!! Our family from Belgium - France unto upper Midwest. I think all people with strange gene are related, so where you from? Thanks LaNavi

- LaNavi

December 9, 2008 6:06 p.m.

My 29 year old son has many serious health problems. Do you know what could cause some of his blood test to look as if he doesn't take his medicines, when he truly does. I hand it to him twice a day myself. Please help me. Thanks

- Marg

November 28, 2008 4:05 p.m.

My mother died from melanoma two years ago at the age of 73. Her sister (only sibling) died in 1976 from melanoma at the age of 43. Her father had cancer died in 1978, and her mother died from a brian tumor when she was only 9 years old. do you think I and my siblings should participate in genetics screening?

- mary

November 18, 2008 10:21 a.m.

Hi I have translocation I found out after having one child (normal) and then in 3 years had 3 miscariages that I carry the gene, then I had one more child (normal) and she is a carrier but my parents wont find out if they are carry it? I hope my daughter wont have to go threw what I did.

- Sandy

November 8, 2008 8:51 p.m.

Hello I am a student in molecular and cellular physiology at the Stanford school of medicine, I am quite curious and interested about the 'miniapoptosis' process introduced few comments ago. Do any happen to know whether preliminary raw data are available that testify its efficiency? Thank you HL

- Harry Leggett

October 21, 2008 9:17 a.m.

I Have lynch disease and can find no information on it.....I was told of this disease last year still I do not have the full understanding of it....

- Linda Briley

October 17, 2008 1:42 p.m.

Several years ago when I was tested at Mayo Clinic, I was told it was due to a genetic problem that I cannot take medications because of bad side effects from almost everything. I have since checked and found that other family members have the same problem. Several doctors have told me that if I don't take their recommended pills, don't come back. At a recent ER visit, even with my blood pressure patch and Nitro, the pressure did not come down. For me, the high blood pressure is normal. The doctors will not accept that, so the real reason for my visit is never checked. They just let me sit for hours until I insist on leaving. How do I convince the medical profession that we humans do not all come in one little mold? My primary doctor. who understands, is semi retired and out of town when most of this occurs. He told me that if I hadn't had a stroke by now (age 86) I wouldn't. Why aren't doctors more informed, or are hey just reluctant to change old habits?

- Louise

October 16, 2008 7:55 a.m.

As a person who has watched family members die from complications of cystic fibrosis, I encourage relatives who plan to have children to be tested -- and to help convince all insurance companies that we need coverage for genetic testing. Testing can tell them if they will need medical help available at birth is the first step in providing a healthier life for the infant. I also encourage them to contact a Mayo site or specialized CF care center, even if it means travel, for the best concentrated help available.

- Jennie