genetic test results.....help me understand?

[Dolly (Andrew's mom)]

I recieved a letter from Mayo Clinic in reference to Andrew and genetic testing. (We currently go to Children's Heart Clinic in Minneapolis, but we used to go to Mayo and he had his myectomy there.) Here is most of the letter:

Previously you kindly provided written consent for use of a blood and/or tissue specimen authorizing research to study genes that are involved in HCM. The consent form stated the following:

If a disease causing genetic defect is identified in a family, this research finding becomes important in the clinical care of the family. In clinical practice, establishing the genetic subtrate helps direct medical therapy and importantly identifies potentially at risk family members.

Therefore, if a defect is found in you, you will be provided an opportunity to have a genetic counseling session to discuss the pros and cons of learning your genetic test result. You may choose not to learn the nature of your genetic defect. In this case there would be no charge for the consultation and no genetic information would be placed in your medical records.

However if you choose to have your defect disclosed, this session would be considered a clinically relevant consultation and standard professional consultation fees would be billed. In addition, the specific genetic defect identified would be documented in your medical records.

At this point, we have identified your family’s HCM-associated genetic variant. The decision to learn one’s genetic test result is a difficult one………..<snip>

Can someone explain in simple terms what this means? Does this mean they could test myself and our oldest son to see if we are carrying the HCM gene? If so, I see no sense in it for me, as I feel it is evident that I do carry it, as well as my brother, since we both had children with active HCM. But would this be beneficial for my 20 year old son to be tested?

I think I understand this to mean even if shown to have the gene it does not mean HCM will ever become active. Is that right? And if that is the case it may actually work against him since he will be going off our insurance next year and need to find his own. It would not be good to have that in his medical records!

What do you all think?

[Midge Rollins]

Dolly, I too just received the same letter yesterday. I no longer have HCM due to my transplant. However, since they have identified it as a familial in my case I am going to go in for the consult since I am there monthly anyway. I want to find out all the information for my kids who are in their 30's and still HCM free. I actually have a call into them right now to set up an appointment. So, I will let you know what I can find out. When did Andrew have his testing. You see, I know it was more than 2 years ago I did it but cannot just remember when. I was surprised to get results. Let me know what you may find out and I will do likewise.

[Burton Borrok]

Well ladies,
It sounds to me like they are saying, “In the tests performed on the sample given we found an HCM variant. We can now test the rest of your family and see who does and does not have this same variant. Let’s talk about it. If you decide not to go ahead – it’s a freebee, however if you do decide to have family members checked then this will be considered a significant discussion – and the time spent on it will be charged,”

In yet other words I think it is saying, “We are in a position to identify which of your family members has the same HCM variant as the person providing the test material. Do you want to know who’s got it?”
Burt

[Dolly (Andrew's mom)]

Midge, that would be great if you could let me know what you find out! Andrew had his myectomy in 1996, so that is when they recieved the specimen from his myectomy and blood samples.

The reason I am debating having our oldest son tested is because of the cons......... even though there are pros as well.

Pros:...................

*If he has the HCM defect he can be monitored and watched closely and if/when the disease becomes active it can be treated before reaching a crisis level.

*He would be more aware of HCM symptoms he may otherwise shrug off.

*He would be aware of having the HCM defect/gene and can discuss the risks of having children and passing on HCM, and the consequences of having a child with HCM, with his future wife. Since "active" HCM can skip generations, he could be a carrier with no symptoms and have a child with full blown HCM. This could be known in advance!

*If the tests were negative it would eliminate the ever present "wondering and worrying" if he has it it.

Cons:.........
*If he has the defective gene it is recorded in his medical records and getting insurance becomes difficult, even if he does not have "active" HCM! He will be off our insurance next year and will need to be finding his own medical insurance.

*If he has the defective gene it does not mean he will have active HCM anytime soon, if ever. But just knowing you have the HCM defect can lead to fear, anxiety, depression, anger, ect......... it is difficult information to live with.


Some pretty serious things to consider, but being as he is almost 21 I think we have to discuss this with him and leave the decision up to him.

[Boz]

Hi Dolly -
Having just gone through this myself maybe I can add something.

The genetic counseling session is a very important part of the service and will help you with the final decision. You and your 20 year old should take advantage. But it sounds like they want to run the test prior to that.

Call them for more information.
(1) This is very important information for your older son, but you do not want any reference to the test in his medical records at this time.
Can they provide for a self-pay test that would keep any result out of his file? Apparently if insurance is involved (at least here in Massachusetts) that info does go straight into the file.

I was just tested and results were positive. Now, any blood relative of mine can have a relatively simple test which looks for the specific mutation. The current fee through the Lab in Cambridge is $250.00 for "known mutation testing."

My sample yeilded a known mutation. One that has some history in the database. This is not always the case.

I was told that 90% of those with an HCM mutation will develop some form of the disease at some time in their life. Symptoms, as we know, vary with the individual.

[angall]

Hi Dolly
I received the same letter in the mail yesterday. I wasn't sure what it meant at first, but after reading it a few times, I concluded that it was to test family members for the posibility of them having or getting HCM.

I will talk to my daughter in May when I go to PA to visit.

I will keep reading posts here for more information.

[Burton Borrok]

Dolly, and anybody else at this point of decision making, I would like to add another two cents if I may.

I would strongly advise anybody involved to first take out a large insurance policy, before having the test to see if they have the disease – a policy that will cover their, and their family’s needs for the rest of their lives. Once they are determined that they have the disease life insurance is all but gone – and the premiums for the policies you can still get are astronomical.

I don’t know about health insurance these days. I know to get an HMO policy for seniors they can only ask three health questions – one is “Are you in end stage renal failure?” I forgot the other two, but none pertain to HCM type conditions. I don’t even know the current situation with pre existing conditions, but I would strongly suggest making sure of the persons future medical coverage before getting the test results for them. If anybody has more information on medical plan conditions and requirements, please jump in with the information.

Dolly, it might pay to get your 20 year old covered immediately with medical insurance along with life insurance – just in case. Frankly, I would much rather know, and be on the lookout for any possible consequences once I have taken all the steps available to protect myself, then to not know and run the risks associated with that eventuality. It’s a tough choice in any event and I salute your decision to put it into the hands of the person most affected by the decision. That takes guts. You sound like a great mom.
Burt

[Dolly (Andrew's mom)]

Wow, some VERY good points and thoughts have been given here!

Boz, it is nice to hear from someone who has already delt with this! Thank you for suggesting we attend the counseling session, whether we decide to have him tested or not.

Burt, I agree, we definetley need to think about and check into, both medical and life insurance before he should be tested, if that is what he chooses to do. He is currently covered through my husband's employer until he is 21, which will be in September. So we would have several months to check into this. Either way, the fact is he will need a new medical insurance policy come September!

This is going to be such a big decision, I hate even bringing it up to him! But I also feel it would be totally unfair not to let him know he has this testing option!

[Darek]

I'm no geneticist but I think what they're testing for is a mutated gene that caused cardiac hypertrophy. Most likely our DNA in our heart cells is deficient in a protein that is needed to develop a healthy heart. I've been doing a lot of research on this lately and it is so very interesting. As a matter of fact I just read a study where they've pinpointed the definciency with a thickened atrial wall. This is all good and great but like I told my doctor . . it's a little late now!

[Dolly (Andrew's mom)]

Boz, could you tell me what exactly is the "test" they do? Is it a DNA type test on a blood sample? Just curious what the test itself is.

[Boz]

Most likely our DNA in our heart cells is deficient in a protein that is needed to develop a healthy heart.

Actually Darek, that’s not it at all.

Tests have been developed to locate the precise gene mutation that causes Hypertrophic Cardiomyopathy. A patient might develop cardiac hypertrophy for reasons other than a genetic mutation.

Currently there are over 200 individual mutations that have been catalogued involving 8 known genes. It is admitted that there certainly could be other mutations involving different genes that cause the disease, but they have already cornered the main culprits. I think there should be a process that allows for everyone that has been diagnosed with this disease to submit a sample. Only then can the catalog become a finished project. But I digress.

The test is done by taking a saliva sample or a blood sample and analyzing the DNA in that sample. Think about it. They don’t need to do a heart biopsy to sample diseased tissue. A random, any time of the day test tube of spit or blood will answer the question. When they find a mutation this way, it can mean only one thing. That mutation lives in every single cell of your body. It had to have happened at the time of original cell division. You can have the mutation, with no clinical evidence of the disease, but that mutation is still found in any random cell you choose to examine.

An acquired mutation is one that is not inherited, but rather a spontaneous event – a spelling mistake as they like to say. But an acquired mutation would also need to occur at the time of original cell division for this mutation to be found in every cell of the body.

Dolly- as mentioned above, spit is all they need.

[Dolly (Andrew's mom)]

Thanks Boz! Wonderful explanation.