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Genetic testing

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jenn2112 We frail humans are at one time capable of the greatest good and, at the same time, capable of the greatest evil. Change will only come about when each of us takes up the daily struggle ourselves to be more forgiving, compassionate, loving, and above all joyful in the knowledge that, by some miracle of grace, we can change as those around us can change too. 34 yr old mother of my only child, David Anthony. Life is what happens while you're busy making plans. Stop trying to play God in your life once in a while; it's amazing what you receive when you let go. Find out more about jenn2112
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  • Genetic testing

    Hi all,

    My son was born almost a year ago. While I was still pregnant, my local cardiologist suggested we do genetic testing on him for HCM. He did mention that it is very expensive, however.

    My question is this: does anyone know just how expensive it is, and at what age should my David get tested?
    36 yr old w/ HCM,l novel variant in TNNT2 gene
    2004 diagnosed
    2004 ICD implant
    DX with Low Cardiac Output - Heart transplant in discussion.
    2009 changed to new wireless Medtronic after battery died
    Father passed away 8/2000
    Oldest sister passed age 44 11/2000
    8/21/09 Son born, showing novel variant in TNNT2 gene

  • #2
    Re: Genetic testing

    good question. No one has been able to explain the point of genetic testing, to me. The knowledge gained from it is not going to affect the future in any way, unless I'm missing something. (which is extremely possible...even "likely"). Even if jr. tests negative for the currently known genetic markers, he still has to be watched carefully for the rest of his life...so what's the point?
    I have HCM--doesn't matter what a genetic test says about me.

    meanwhile, S7 had an echo @ age 5, and is clear. echo every 5 years is the latest recommendation I've gotten. His doc is well aware of the situation.

    Now, once they are able to switch on/off these genes, that'll be a different story. for now, it seems like a purely academic exercise.
    dx'd HCM @age24, (1989) |Gene + |no family history

    Comment


    • #3
      Re: Genetic testing

      That is not exactly true Chuck. If they can identify your genetic mutation, and then they test your child and find out that the child does NOT share your genetic mutation, then the child will not have to be tested anymore. If the child is positive, then they will still have to be followed closely.

      The part that is uncertain is if they are not able to isolate the genetic mutation in the parent.
      Daughter of Father with HCM
      Diagnosed with HCM 1999.
      Full term pregnancy - Son born 11/01
      ICD implanted 2/03; generator replaced 2/2005 and 2/2012
      Myectomy 8/11/06 - Joe Dearani - Mayo Clinic.

      Comment


      • #4
        Re: Genetic testing

        Chuck.. I am a little confused By what you said .. If Jr tests negative for a genetic mutation that may be found in you via testing that resulted in your HCM, he will not need these checks at recurring intervals through out his life. So that would be a good reason to have the genetic testing and if he were found positive then there are research studies working with positive phenotype and negative disease expression candidates. These projects are aimed at hopefully thwarting the disease from expressing or at least trying to minimize the effects.
        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


        • #5
          Re: Genetic testing

          Originally posted by Pam Alexson View Post
          Chuck.. I am a little confused By what you said .. If Jr tests negative for a genetic mutation that may be found in you via testing that resulted in your HCM, he will not need these checks at recurring intervals through out his life.
          you would trust that result as "gospel"?
          (I wouldn't).



          Originally posted by Pam Alexson View Post
          So that would be a good reason to have the genetic testing and if he were found positive then there are research studies working with positive phenotype and negative disease expression candidates. These projects are aimed at hopefully thwarting the disease from expressing or at least trying to minimize the effects.
          good to know. what do they need for the test?
          dx'd HCM @age24, (1989) |Gene + |no family history

          Comment


          • #6
            Re: Genetic testing

            You are correct Chuck, the genetic test will not change anything for you, but it could change things for your children, siblings and parents. First, you have to have genetic testing done. IF they determine your gene mutation, they will be able to determine if your family members are carrying the gene. If negative, there is no need for them to be tested as you describe through out their lifetime, no need to restrict activities, etc. Yep, that's the gospel truth.
            Onward and Upward !

            Diagnosed 4/07 HCM with fixed & dynamic obstruction
            Myectomy with resected cordonae tendonae 4/08 CCF
            ICD 10/08

            Comment


            • #7
              Re: Genetic testing

              My parents are "old"...and their docs know the situation. 3 of 4 grandparents lived into their 90s; one is 96 and still going, (and btw, just had an aortic aneurysm repaired at B&W in Boston.) fwiw, and it may not be worth anything, I have no family history of HCM, and not even any history of "premature death" in my family tree, going back hundreds of years. (the wife is into genealogy...got lots of data )

              My sis is a Christian Scientist. She thinks this is all in your/our heads.
              (can you say "lost cause"? LOL!)

              my brother knows the sitch, and has been checked. Neither sibling will likely have children. (I just have the one; there won't be any more).

              Originally posted by LindaSo View Post
              Yep, that's the gospel truth.
              well...it was the gospel truth that I was perfectly healthy, right up until...I wasn't anymore.
              I've had lots of doctors make lots of mistakes. I just don't trust such a notion. The more absolute the proclamation, the less I trust it.
              not to mention what might be done with such genetic documentation.
              dx'd HCM @age24, (1989) |Gene + |no family history

              Comment


              • #8
                Re: Genetic testing

                2 vials of blood and your copay and / or deductible at Tufts, some paper work and a little of your time .. Dr M Maron is a consultant for PGX Health in CT so Tufts has a contract to accept your co-pay and of course you would have had to meet your deductible.
                My daughter who had testing and was found negative, got extra life insurance before the test and a red flag went up because I her mother had a genetic test for a heart disease and it was positive and because I have the heart disease. She is now in the process of requesting a rate reduction because of her negative gene status... they told her that they would do this, lower her premium.

                Yes I absolutely do trust that the genetic tests are informative and accurate .. my brother ( I have 2 other sibs)had it and my mom .. both positive . MY brother is non obstructed my mom has small LVH has really not expressed the disease. .. AND I have had a tough battle with it and was severely obstructed.. My mom's dad died of CHF and so did his dad.
                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


                • #9
                  Re: Genetic testing

                  Well, it still sounds to me that until they learn to use this information to affect a cure or beneficial treatment, (as in: "a-ha! this is the button we push to make it stop!") its existence can only be used to harm you.
                  dx'd HCM @age24, (1989) |Gene + |no family history

                  Comment


                  • #10
                    Re: Genetic testing

                    Chuck,

                    Although there is possibly risk that a person's genetic information may be used against them, there is also significant benefit that can come from the identification of his or her specific genetic mutation. Certain mutations are known to be correlated with a more benign expression of HCM and others are known to be correlated with a more malignant expression.

                    In our case, had we begun the process of of our family's genetic testing sooner we may have identified my son's double mutation sooner and been able to have an ICD implanted, since researchers are now learning that multiple mutations are associated with an increased risk of arrhythmias and SCD. Not only did we receive his genetic test results days before he suffered a fatal arrhythmia, subsequent testing to clarify some ambiguity about one of the mutations he carried resulted in the identification of a new mutation that causes HCM.

                    While there may be risk to having the testing done it is unreasonable to dismiss the benefit that can come from it both to the individual and to all of us who have HCM.

                    Abby

                    Comment


                    • #11
                      Re: Genetic testing

                      OK, here's the way I see it.

                      1. Chuck, you're correct: nothing from the genetic tests will currently affect your treatment. The only current reason a patient would have to get tested is to find out whether they have one of the currently known mutations that account for about 2/3 of HCM cases. And the only reason that information is presently useful is to ask whether close relatives -- children, siblings, parents -- also have it. If they do, then they can be checked more frequently and carefully for development of the disease. If they don't, they don't need to be checked.

                      2. I can understand why you're concerned that this information might be abused, but I don't understand why you doubt that what I said above in point 1 is true. Nobody claims to know everything about HCM, but the evidence that these mutations cause the disease is about as strong as evidence gets in medicine.

                      3. If someone's worried that the information might be misused -- and as I said, I can see why one might -- then the alternative is to check those relatives with echocardiograms frequently (I think most HCM experts would recommend more often than every 5 yrs) for the rest of their lives. It's safe and effective, though over time it will cost more than the genetic testing. That regular check actually IS a reasonable alternative for you in light of your concern about misuse of the information -- but I'd urge you (a) to check with HCM specialists to see how often they'd suggest such echos, and (b) to make sure it really happens regularly.

                      4. For most diseases, there will never be a button to push to make it stop. Bodies are too complicated for that. I think that genetic information is quite useful for research, and it's presently useful for patients (in the sense I stated in point 1). Truth in advertising: I'm a biologist, so maybe I'm biased here, though I have nothing to do with research on anything connected with HCM or any other human disease.

                      Gordon
                      Myectomy on Feb. 5, 2007.

                      Comment


                      • #12
                        Re: Genetic testing

                        Originally posted by Brownie View Post
                        ...there is also significant benefit that can come from the identification of his or her specific genetic mutation. Certain mutations are known to be correlated with a more benign expression of HCM and others are known to be correlated with a more malignant expression.

                        In our case, had we begun the process of of our family's genetic testing sooner we may have identified my son's double mutation sooner and been able to have an ICD implanted, since researchers are now learning that multiple mutations are associated with an increased risk of arrhythmias and SCD. ...
                        Well, there it is.
                        I didn't mean to "condemn" the notion, and certainly not what someone ELSE decides to do; I said "no one has been able to explain the point of it to me". I think you just took care of that. I was under the impression that these markers were merely "present" or "absent".

                        So, do they use this testing to evaluate the need for ICD/risk of SCD at Tufts?
                        dx'd HCM @age24, (1989) |Gene + |no family history

                        Comment


                        • #13
                          Re: Genetic testing

                          Originally posted by gfox42 View Post
                          OK, here's the way I see it.

                          1. Chuck, you're correct: nothing from the genetic tests will currently affect your treatment.
                          well, now it seems that it actually might, according to Abby.
                          Originally posted by gfox42 View Post
                          The only current reason a patient would have to get tested is to find out whether they have one of the currently known mutations that account for about 2/3 of HCM cases. And the only reason that information is presently useful is to ask whether close relatives -- children, siblings, parents -- also have it. If they do, then they can be checked more frequently and carefully for development of the disease. If they don't, they don't need to be checked.
                          that last sentence, though--how do we know that we know ALL of the possible genes/mutations/combinations that could cause this, and that we don't both share something that they're simply not looking at yet?


                          Originally posted by gfox42 View Post
                          2. I can understand why you're concerned that this information might be abused, but I don't understand why you doubt that what I said above in point 1 is true. Nobody claims to know everything about HCM, but the evidence that these mutations cause the disease is about as strong as evidence gets in medicine.
                          I don't doubt that the mutations cause the disease. I doubted that there is much anyone could DO about it.
                          Originally posted by gfox42 View Post
                          3. If someone's worried that the information might be misused -- and as I said, I can see why one might -- then the alternative is to check those relatives with echocardiograms frequently (I think most HCM experts would recommend more often than every 5 yrs) for the rest of their lives. It's safe and effective, though over time it will cost more than the genetic testing. That regular check actually IS a reasonable alternative for you in light of your concern about misuse of the information -- but I'd urge you (a) to check with HCM specialists to see how often they'd suggest such echos, and (b) to make sure it really happens regularly.
                          will do.
                          dx'd HCM @age24, (1989) |Gene + |no family history

                          Comment


                          • #14
                            Re: Genetic testing

                            OK, let me clear up a couple of points.

                            Yes, some mutations have been related to more severe disease. But no, presently it's not the presence of the mutations (or their identity) that generally guide therapy. But there are cases in which it plays a role -- like families with a significant history of SCD using it as a guide to decide on ICD implantation. Otherwise, therapy for HCM is still generally guided by the patients' condition, not by the presence or absence of particular genes.

                            No, all HCM-causing mutations have not yet been identified. About 2/3 of HCM cases can be explained by identified mutations, though. So here are the possibilities. a) The patient has a known mutation. Immediate relatives can then be checked for it. If they don't have it, they don't have it. It's certainly not impossible that they have another, unknown mutation -- but the likelihood is quite small. In this case, the testing proves to be informative. b) The patient doesn't have a known mutation. In this case, the testing is uninformative and there'd be no point in pursuing tests with relatives.

                            To restate: no, the tests are clearly not perfect. What they can do, though, for about 2/3 of HCM patients, is to identify genes that are known to cause HCM, and therefore can be used in their immediate family to see if they also carry those genes. That's really what they're useful for at present. If such a gene is identified in the patient, then it's a more efficacious way of determining which family members should be followed up closely.

                            Gordon
                            Myectomy on Feb. 5, 2007.

                            Comment


                            • #15
                              Re: Genetic testing

                              HI Chuck,

                              Would you mind please, to check the forum you are in before taking over this thread? I specifically asked the moderators these questions. And while I am sure you have a very important opinion, it has nothing to do with my original question of where I take my son, how much it costs, and at what age he should go.

                              I wasn't questioning the validity or necessity for genetic testing, so kindly take your opinions to the proper sections of this forum, and not on the "Ask the HCMA"
                              36 yr old w/ HCM,l novel variant in TNNT2 gene
                              2004 diagnosed
                              2004 ICD implant
                              DX with Low Cardiac Output - Heart transplant in discussion.
                              2009 changed to new wireless Medtronic after battery died
                              Father passed away 8/2000
                              Oldest sister passed age 44 11/2000
                              8/21/09 Son born, showing novel variant in TNNT2 gene

                              Comment

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