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Genetic Testing: Info from the meeting

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  • Genetic Testing: Info from the meeting

    Here are Pam from Upstate N.Y.'s notes from the annual meeting:

    * There are 12 genes and over 250 mutations identified to date that relate to HCM.
    * This genetic mutation can be inherited from a parent or can arise spontaneously. Mutations in sarcomere genes probably account for most cases of unexplained cardiac hypertrophy, but not all.
    * HCM is a genetic disease- an autosomal dominant one- which means that if a parent has HCM there is a 50/50 chance that a child will have it.
    * HCM is a diverse disease and it's course can be very different in different families- it is very uncommon for unrelated families to share the same mutation.
    * Testing is done as part of NIH federally sponsored research at the Seidman lab (Harvard) and is now available through the Harvard Partners Healthcare Genetics and Genomics lab- they had information out at the meeting.
    * Lab testing is costly (around $3,000) but once the specific mutation is identified in the parent, testing the children is much less expensive ($500).
    * There are many issues to consider besides cost in deciding whether to pursue genetics testing- ethical dilemmas, benefit to science, benefit to you.
    * If you get the testing done, and they find the mutation, it means that the diagnosis is confirmed and identifies the specific genetic cause of HCM but it doesn't mean you or your children will ever become symptomatic- around 90% of people who inherit a mutation will ultimately develop HCM.
    * The hope is that testing will help with earlier identification and diagnosis, possibly enable lifestyle changes, and that future studies of proactive medical treatment of early HCM may prevent the full development of the disease (Dr. Ho's research on late onset is targeted in this direction)- keep hoping.

    -------------------------------------------
    I want to make sure that I am understanding this correctly.
    I can go to the Harvard Partners Healthcare Genetics and Genomics lab and get a blood test that may or may not be covered under insurance. Should the mutation that has caused my HCM be within the scope of their testing (I believe the quote was 80% of the mutations they can find), they can then isolate the problem. They can then test first line relatives (Children, siblings, parents) and be able to tell with 100% (?) accuracy, whether they have the same mutation that can develop into HCM.

    Do I have this right?
    Does anyone have the link to the Seidman Institute that they gave during their slide show? I had hoped it would be in the packet but I looked today and it was not there.
    Fx

  • #2
    Re: Genetic Testing: Info from the meeting

    Felix, you don't have to go to their lab to have your blood drawn. The way it works (unless something has changed) is that you can have any lab draw the blood and they can FedEx it to the lab. Here is a link to their lab's website, but you may not get a lot of info off of the page.

    http://genetics.med.harvard.edu/~seidman/

    Since they are genotyping you for research purposes, you wouldn't have to submit any insurance or any other billing. If they can identify your mutation then they can test your children, siblings, and parents to see if any of them have the same mutation. If they do, there is a 90% chance of that person developing clinical HCM symptoms.

    I hope this helps.

    Reenie
    Reenie

    ****************
    Husband has HCM.
    3 kids - ages 23, 21, & 19. All presently clear of HCM.

    Comment


    • #3
      Re: Genetic Testing: Info from the meeting

      As I understand it there are two options for testing:

      (1) Enrolling in the NIH research currently underway at the Seidman lab (I'm sure there are others but I'm unaware of them)- which costs nothing and Reenie is correct- you can have the blood drawn anywhere and you send it via FedEx along with some other info, releases, and consent forms. The screening for their research takes quite a while. And at the meeting they were encouraging people to talk to the Partners Healthcare Center group so I'm not sure if they are still enrolling people. Insurance doesn't pay for this but if you can't get the blood test for free then the research study would pay.

      (2) Harvard Med School/ Partners Health Care Center for Genetics and Genomics- a certified lab that does charge $$ but completes the tests quickly- 2-3 weeks I think. Cardiomyopathy is one of the tests they have available, along with hearing loss and a couple of others. They include the five most common genes in their test (which they say identifies over 60% of patients with HCM) and they are adding 3 more- probably later this summer. It is questionable whether you could get insurance to pay the $3000- but you could try. If they did it would no doubt be part of your medical record. The other question which I asked but they didn't know the answer to is whether you could pay out of Section 125 (pre-tax health care) plans- which would reduce the net cost considerably.

      I echo what Reenie said about the rest. Once the mutation is identified, your children can be tested...

      Pam
      Diagnosed 8/2002, Myectomy (CCF) 3/2003, ICDs 2003,2006 (fired once appropriately), FT researcher, wife and mom of 2 boys (17 and 20).

      Comment


      • #4
        Re: Genetic Testing: Info from the meeting

        I'm not sure if anyone here would know the answer to this question but I'll ask all the same.

        I have chronically high Troponin levels on blood test. Would that be corralated with the Troponin mutation that has been found in HCM patients?

        I've been reading too many journals at work I think. I find them so fascinating though I think I might just want to go into research to get some of these answers!

        Mary S.

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        • #5
          Re: Genetic Testing: Info from the meeting

          Hi, Dr. Mary!

          I can just picture you with a PhD/MD doing research for all of us.



          Rhoda

          Comment


          • #6
            Re: Genetic Testing: Info from the meeting

            Good question.
            No clue.

            Ask your specialist?

            Reenie
            Reenie

            ****************
            Husband has HCM.
            3 kids - ages 23, 21, & 19. All presently clear of HCM.

            Comment


            • #7
              Re: Genetic Testing: Info from the meeting

              Mary,
              How are you doing kiddo? I hope you’re still feeling tip top. If you’re thinking of going into medical research, you might be interested in the hereditary diseases. For example, I got HCM, cardiac problems, hypertension, familial hyperlipidemia, and assorted other maladies from my mother. I got the risk of abdominal cancer from my father, and insanity I got from my kids.

              Life I got from both my parents, and even though it’s fleeting, I’m still quite happy. I’m in yet another bout of CHF so I’m dragging around a bit, but I’m still a moving target.

              Now for the fun part - - - I hope all who care about Mary join me in wishing her a very Happy Birthday come Saturday. Is it OK to say you’re going to be 24, or is it impolite to reveal the age of a lady? (Ye Gads, I just realized that in less then a month I will be triple your age.) Boy, what I wouldn’t give to be your age – even double your age

              Listen Mary, have a spectacular birthday, be well, and have many, many more.
              ‘Grandpa’ Burt

              Comment


              • #8
                Re: Genetic Testing: Info from the meeting

                Happy Birthday, Mary!
                \"It is not length of life, but depth of life.\"

                Ralph Waldo Emerson

                Comment


                • #9
                  Re: Genetic Testing: Info from the meeting

                  Happy Birthday Mary from 1 gemini to another , mine was the 8th. Big 51 I remember 24 ahhhhh. Pam
                  Dx @ 47 with HOCM & HF:11/00
                  Guidant ICD:Mar.01, Recalled/replaced:6/05 w/ Medtronic device
                  Lead failure,replaced 12/06.
                  SF lead recall:07,extracted leads and new device 2012
                  [email protected] Tufts, Boston:10/5/03; age 50. ( [email protected] 240 mmHg ++)
                  Paroxysmal A-Fib: 06-07,2010 controlled w/sotalol dosing
                  Genetic mutation 4/09, mother(d), brother, son, gene+
                  Mother of 3, grandma of 3:Tim,27,Sarah,33w/6 y/o old Sophia, 5 y/o Jack, Laura 34, w/ 5 y/o old Benjamin

                  Comment


                  • #10
                    Re: Genetic Testing: Info from the meeting

                    Hi Mary and Happy BD! The chronically high Troponin levels on the blood test should have nothing to do with the mutation. The troponin level in the blood is a test to measure leakage of the troponin protein from muscle cells - an occurance with muscle injury. This test is done with the occurance of chest pain to help determine if it is heart related chest pain and if that pain is an indication of injury or reversible ischemia (oxygen deprived muscle in the heart). The troponin mutation would actually be on the portion of the gene being studied. So if your question was to suggest that the high levels may mean you have a troponin mutation, the answer is no. You may or may not have that mutation, but that test doesn't identify it. If someone else can help clarify, please chime in. Linda

                    Comment


                    • #11
                      Re: Genetic Testing: Info from the meeting

                      Hi Pam,
                      Happy, if belated, birthday wishes for you too. You know of course that now-a-days fifty one is just the beginning of the ‘good’ years. The kids become self supporting and move out, you now have the time to do all the things you’ve been putting off while the kids were young, and you’re still in condition to enjoy it.

                      Actually, the way life expectancy has expanded, in two decades you will still be out there enjoying yourself. Take it from somebody who knows. You have finally reached the prime of life. Have a ball.
                      Burt

                      Comment


                      • #12
                        Re: Genetic Testing: Info from the meeting

                        Yeah, I know that the Troponin levels that are typically drawn in the blood represent that of the heart muscles failure to recieve oxygen. I have been told that I have a troponin "leak". One test was done two weeks after a hospital admit and they were mildly elevated.

                        I guess i should have been more specific. For the different people like me who have this phenomonon are the leaks cause by a mutation in the sarcomere or heavy chain binding proteins? I just was not sure if the troponin gene and the leaks were corralated.

                        Did that make any sense?

                        Mary S.

                        Comment


                        • #13
                          Re: Genetic Testing: Info from the meeting

                          I know less than nothing about all this!! I just thought I would jump in and send out birthday wishes to Mary and Pam. I am yet another Gemini with my BIG "30" coming on the 15th...(4 days). Frankly I never thought I would make it to 30, so this is a milestone for me.

                          HAPPY BIRTHDAY GIRLS!!!


                          Pam
                          It's not what you gather, but what you scatter that tells what kind of life you have lived.

                          Dx in Feb/99. Obstructed. No ICD, no surgeries, no family history. 2 sons ages 14 and 6.

                          Comment


                          • #14
                            Re: Genetic Testing: Info from the meeting

                            Thank you all for your bithday wishes and Happy Birthday to you Pam also and you too Dylan , Boy I am 5 times his age! Burt I wish I was in the prime of my life or at least felt it. If I did not have this dang HCM I may have agreed with you . Most days I am just happy that parts of it are not fully involving tasks that will leave me kicking myself the next day and trying always to fall back in line. Maybe once I see the Rheumatologist he will have some help or answers for me . Here's hoping. I have a lot in my life and always just want to try and keep up . The losing battle rages on. I put my best face on so to speak . Have a great evening all. Pam
                            Dx @ 47 with HOCM & HF:11/00
                            Guidant ICD:Mar.01, Recalled/replaced:6/05 w/ Medtronic device
                            Lead failure,replaced 12/06.
                            SF lead recall:07,extracted leads and new device 2012
                            [email protected] Tufts, Boston:10/5/03; age 50. ( [email protected] 240 mmHg ++)
                            Paroxysmal A-Fib: 06-07,2010 controlled w/sotalol dosing
                            Genetic mutation 4/09, mother(d), brother, son, gene+
                            Mother of 3, grandma of 3:Tim,27,Sarah,33w/6 y/o old Sophia, 5 y/o Jack, Laura 34, w/ 5 y/o old Benjamin

                            Comment


                            • #15
                              Re: Genetic Testing: Info from the meeting

                              Mary,

                              It's already your birthday in China, so get celebrating, girl!!!

                              Happy birthday, Mary, and Pam, and Pam!

                              Rhoda

                              Comment

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