Have you banked your DNA? Have you thought about it? Have you even heard of it?

I heard of it for the first time yesterday in my appointment with a genetics doctor. The appointment came as a surprise since it was made for me by one of my doctors, who didn’t tell me he was referring me to a genetics doctor. But that’s another story. I had one tiny letter exchange in one item of DNA in the test for Charcot Marie Tooth. I agree with the geneticist that there is no point in further testing, since nothing can be done with whatever is found. And most likely this is just another 'incidentaloma" My term for something that shows up on a test that is essentially meaningless or turns out not to be there on further testing. I've had gobs of these over the years since I've had every test under the sun several times over.

Dr. Marie McDonald, pediatric geneticist at Duke University Medical Center Hospital, suggested that I bank my DNA (the procedure costs around $100 I think). This would give my children and grandchildren the opportunity to examine my DNA for possible genetic clues to conditions that might develop after my death.

An alternative would be complete sequencing of my entire DNA done now, as a record for the future, and to answer, if possible, whether or not there are genetic clues to my wide range of Zebra conditions. That complete sequencing is called Whole Exome Sequencing, and costs about $7000.

I will probably participate in DNA Banking, but not Whole Exome Sequencing.

Any thoughts? Any experience?

Hugs, ElaineD

I like the banking idea.

incidentalomas are tumors that are found accidentally on mri or ct for other reasons. The problem some people might have with DNA banking is that, they are concerned it can be sold to other groups for thier own purposes, and there is ethical concerns withit.

Aha, thanks for the information about "incidentalomas". When I used it for weird stuff found on tests, it felt a bit 'familiar'.

I'll have to come up with a different term!

Accidenta-something? hmmm, I'll have think about it.

I'm not worried about my DNA getting sold and used for other purposes. I assume the DNA banking company is ethical...but of course you never know.

And my DNA will be in a blood sample, not actually tested and verified. My DNA could be explored from a good hair sample I guess....or more likely from my blood samples stolen from one of the major testing labs. But it still has to be sequenced, of course, which is expensive.

My Immunologist has already entered a great deal of genetic information into her study of people with my Immune Deficiency (CVID)

I imagine people after DNA information would like for it to be already actually sequenced. This lab just stores my blood after I'm long gone, in case some member of my family, that I give 'rights' to, wants to pay for a lab to sequence the genetic information, perhaps using techniques and information not currently available.

Hugs Elaine

phantamosa?

Personally, I would not do it, too late anyway, my daughter has 2 children and their lives will unfold as they will. My mom and all her sisters had osteoarthritis and so do I. I deal with that. I'm not a big test person. But that's me. Good luck with that. C

Hi Elaine,

Thanks for sharing on an interesting topic.
If interested in banking for your family's sake, maybe ask them if they are interested in having the rights in order to go ahead with sequencing, should they have issues in the future. Yet, I must be missing something.... if a family member is having health issues and in need of DNA testing, wouldn't they be able to directly test their own DNA for the information needed?

I honestly do not know much about this. I do know I have just sent in a sample for DNA testing for various neuromuscular issues. I did not need the blood or DNA of anyone else in my family for this testing.

Interesting. I am sure Dr. Marie Mc Donald gave this advice. I plead ignorance. Interesting discussion.

Warmly,
DejaVu

The price of Exome Sequencing continues to drop and is under $1000 now. I am getting mine done for $350 after hopping on an extraordinary deal due to prior involvement with an organization. I'll be picking it apart myself, but will have access to a genetic counselor as need be.

On balance I would go along with DNA banking. By choice I have no children so this is theoretical for me.

One thing to bear in mind is that it is very complicated. With the exception of (relatively very rare) single-gene diseases, genetic variants are just risk factors.

For example allele 23 of gene A may code for a form of a protein which is a risk factor for disease X. That risk can be made worse for somebody who has inherited allele 76 of gene B but better if they have inherited allele 41 of gene C, and so on. The different combinations grow very rapidly.

The other very important idea to remember is that genetic risk factors (different forms of a protein encoded by different alleles of a gene) can generally always be modified (for better or worse) by environmental effects - changes in diet, other life-style changes, sometimes but not always different medications, etc.

We have a lot to learn about this but at the moment genetic determinism (OMG, it is in my genes - I am doomed.) is, in my opinion, not a helpful concept.

I actually don't look at it that way at all. As I've studied some of my variants, one of the things that's often present in research are things that can be done to mitigate the bad genetics. Just the possibility that this could be true has forced my hand to a healthier lifestyle. Case in point, I have two copies of the nasty 9p21 variant.

The chromosome 9p21 variant interacts with vegetable and wine intake to influence the risk of cardiovascular disease: a population based cohort study

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