If this is your first visit, be sure to check out the FAQ in HCMA Announcements. You may have to register before you can post: click the register link above to proceed. To start viewing messages, select the forum that you want to visit from the selection below. Your Participation in this message board is strictly voluntary. Information and comments on the message board do not necessarily reflect the feelings, opinions, or positions of the Hypertrophic Cardiomyopathy Association. At no time should participants to this board substitute information within for individual medical advice. The Hypertrophic Cardiomyopathy Association shall not be liable for any information provided herein. All participants in this board should conduct themselves in a professional and respectful manner. Failure to do so will result in suspension or termination. The moderators of the message board working with the HCMA will be responsible for notifying participants if they have violated the rules of conduct for the board. Moderators or HCMA staff may edit any post to ensure it conforms with the rules of the board or may delete it. This community is welcoming to all those with HCM we ask that you remember each user comes to the board with information and a point of view that may differ from that which you hold, respect is critical, please post respectfully. Thank you

Announcement

Collapse
No announcement yet.

Genetic Test for a Big Heart Has Big Benefits

Collapse

About the Author

Collapse

Lisa Salberg Find out more about Lisa Salberg
X
 
  • Filter
  • Time
  • Show
Clear All
new posts

  • Genetic Test for a Big Heart Has Big Benefits

    Genetic Test for a Big Heart Has Big Benefits
    Correlagen Diagnostics offers inexpensive, reliable way to diagnose Hypertrophic Cardiomyopathy, a leading cause of sudden cardiac death

    WALTHAM, Mass.--(BUSINESS WIRE)--Correlagen Diagnostics, Inc. (www.correlagen.com), a leading provider of genetic testing services, today announced that it is offering a genetic test for Hypertrophic Cardiomyopathy (HCM), an inherited disease that affects one out of 500 Americans. HCM is the leading cause of sudden cardiac death in children and young adults and accounts for 40 percent of all deaths on athletic playing fields across the U.S.

    HCM, which is characterized by a thickening of the heart muscle, is caused by a defect in one of several genes and can lead to severe problems including heart failure, stroke, or sudden death. While there is no cure for HCM, early diagnosis allows timely initiation of lifestyle changes and medical interventions that can delay disease progression and reduce the risk of sudden cardiac death. Many HCM patients benefit from beta blockers, calcium channel blockers and implantable cardioverter-defibrillators or ICDs. Since HCM is an inherited disease, it can be diagnosed through genetic testing, which can confirm a diagnosis in patients with unclear symptoms.

    “HCM can be a difficult disease to diagnose, particularly in young patients participating in competitive sports,” said Dr. Martin Maron, co-director, Hypertrophic Cardiomyopathy Center, Tufts-New England Medical Center. “Since symptoms can vary greatly and often are similar to those of other non-cardiac diseases, patients with HCM may not realize they have the disease. And because HCM is a genetically transmitted heart disease, it is important to identify whether other family members are affected. Genetic testing can both clarify a diagnosis of HCM and determine an individual’s genetic predisposition for HCM. The information gained from genetic testing may directly impact a patient’s medical treatment or lifestyle recommendations.”

    Because HCM is dominantly inherited, each child of an HCM parent has a 50 percent chance of harboring the disease-causing mutation. Once the specific genetic defect leading to HCM in a family (the “familial mutation”) has been identified in a patient, genetic testing can easily and inexpensively identify family members who carry the familial mutation and are at increased risk for HCM. At the same time, family members without the familial mutation no longer have to worry about being at risk for HCM or passing this risk on to their children.

    Lisa Salberg, founder and president of the Hypertrophic Cardiomyopathy Association (HCMA), a non-profit patient advocacy and support group for HCM patients and their families, was diagnosed with HCM at age 12. She has lost four family members to the disease, including her sister who died at the age of 36. While Lisa’s family's history of heart disease may seem stunning, it is not uncommon. “There are an estimated 550,000 families in this country that have experiences similar to mine,” said Salberg. “For these families, early diagnosis can make a life or death difference. A positive result for HCM can lead to a course of medical treatment, lifestyle tips and exercise guidelines while a negative result can end rigorous and costly heart exams and the angst that often accompanies an unconfirmed diagnosis.”

    To raise awareness of HCM and the importance of early diagnosis for effective management and better outcomes, Correlagen is working with organizations such as the HCMA (www.4hcm.org). Patients can also get information through HCM Centers around the country, including those at: Mayo Clinic (www.mayoclinic.org); Minneapolis Heart Institute (www.mplsheart.com); St. Luke’s-Roosevelt Hospital Center (www.hcmny.org); Stanford University Medical Center (http://hcm.stanfordhospital.com); Tufts-New England Medical Center (http://www.nemc.org/medicine/card/Hy...hyCenter.htm); University of Michigan (http://www2.med.umich.edu/department...iceprofile.cfm ?service_id=1098&group_id=HCC) (Due to its length, this URL may need to be copied/pasted into your Internet browser's address field. Remove the extra space if one exists); and University of Texas Health Science Center, San Antonio (www.hcmclinic.uthscsa.edu).

    “Our goal is to make genetic testing services for HCM and other cardiovascular diseases more widely available and convenient to administer for physicians and – for the first time – affordable for patients,” said Dr. David Margulies, co-founder and CEO of Correlagen.

    The HCM Sequencing Test

    Correlagen Diagnostics’ HCM Sequencing Test requires only a cheek swab or a small blood sample from the patient. Physicians send the sample and the completed medical and insurance forms directly to Correlagen, where the patient’s DNA is extracted and analyzed. Correlagen’s highly automated testing processes allow for fast, accurate detection of disease-causing mutations in the genes known to be associated with most cases of familial HCM. Mutations detected in the genes are evaluated in the context of the current scientific literature, and a comprehensive report is prepared to help a patient’s physician understand and explain the results of DNA sequencing to the patient.

    In the genetic testing arena, Correlagen’s “turn-around time” for results is very short, averaging only four weeks. Correlagen also handles all insurance claims on behalf of the patients. Regardless of the extent of insurance reimbursement, patient responsibility is limited to a small portion of the total testing cost.

    Physicians and consumers may request information about the HCM test, as well as information about Correlagen’s other tests in the fields of cardiology, endocrinology, immunology, and ophthalmology by visiting www.correlagen.com or by calling Correlagen at 866-647-0735.

    About Correlagen Diagnostics, Inc.

    Founded in 2003, Correlagen Diagnostics, Inc. is bringing genetic testing to clinical practice in the fields of cardiology, endocrinology, immunology and ophthalmology. Correlagen uses a high throughput automated approach to its testing services that incorporates sequencing, variant analysis, and results reporting. To learn more, visit www.correlagen.com or call 866-647-0735.
    Knowledge is power ... Stay informed!
    YOU can make a difference - all you have to do is try!

    Dx age 12 current age 46 and counting!
    lost: 5 family members to HCM (SCD, Stroke, CHF)
    Others diagnosed living with HCM (or gene +) include - daughter, niece, nephew, cousin, sister and many many friends!
    Therapy - ICD (implanted 97, 01, 04 and 11, medication
    Currently not obstructed
    Complications - unnecessary pacemaker and stroke (unrelated to each other)

  • #2
    Re: Genetic Test for a Big Heart Has Big Benefits

    Does this mean that Felix can go to his local cardiologist, have them order up this test, and then we can find out if we can discover his mutatation. If that is done, then we can send them a sample from the kids to see if they "have" HCM.

    Unless I do things, or they are easy, they dont get done around here. I have been pressing Felix to get the generic testing done for over a year now, which is more in line of something he needs to do. I cant do it for him.

    Sandy

    Comment


    • #3
      Re: Genetic Test for a Big Heart Has Big Benefits

      Without getting in the middle of a family squabble, the answer to your question is yes!

      The problem is that the tests may not be covered by insurance, and if they are not, you are looking at a large expense out of pocket (it used to be $2500. It may be a little less now, but still pricey). You should first see if your insurance will cover. If they find Felix's gene (which is not guaranteed - there is a 60% or so chance), then you can test the kids for about $250 each to see if they match Felix's gene.

      I have not done it myself. I am hoping that my gene will be identified through some old research studies I am enrolled in, and if so, then I can have my son screened as I don't wish to incur the $2500 cost, and I have some family resistance of my own regarding the tests.

      BTW, Sandy, have you seen "Knocked Up" - a funny film highlighting the compromises one must make with respect to marriage and children.
      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 Test for a Big Heart Has Big Benefits

        The new pricing and testing structure effective next week for Correlagen Diagnostics, Inc will be:
        Panel one - The three most common genes for HCM - MYBPC3, MYH7 and TNNT2 which have a yeild of 55-65% and when used with Ackermans theory on heart shape and genetics the yeild can be as high as 80%. The TOTAL cost is $3,600.00 however patients are only responsible for paying 15% or $540.00.

        I am waiting for information on the costs on panel two which will include the other 5 genes most commonly seen in HCM and the unexplained hypertrophy costs.

        This pricing stucture is available now, but I am not sure if it will sustain long term, I hope it does. We need insurance companies to see the value of genetic testing in HCM and pay the balance for this important test. I would suggest those of you who have been on the fence regarding genetic testing take advantage of the pricing now if that was the issue holding you back in the past.

        Lisa
        Knowledge is power ... Stay informed!
        YOU can make a difference - all you have to do is try!

        Dx age 12 current age 46 and counting!
        lost: 5 family members to HCM (SCD, Stroke, CHF)
        Others diagnosed living with HCM (or gene +) include - daughter, niece, nephew, cousin, sister and many many friends!
        Therapy - ICD (implanted 97, 01, 04 and 11, medication
        Currently not obstructed
        Complications - unnecessary pacemaker and stroke (unrelated to each other)

        Comment


        • #5
          Re: Genetic Test for a Big Heart Has Big Benefits

          I have already contacted the lab, and I have all of the paperwork to begin the process. The rep @ the lab, told me that the cost could even be less than the $540. If anyone is interested I would forward all of the info. that I have. It seems like a painless and easy process. We are going to have our daughter tested, so we can identify the gene, then figure out which one of my husbands parents is the carrier. There are lots of cousins/Aunts and Unlces that could benefit. This is a GREAT resource.

          Comment


          • #6
            Re: Genetic Test for a Big Heart Has Big Benefits

            So you dont even have to go thru your Dr and can contact the Lab directly?
            Or is that based on insurance. Felix has Blue cross blue shield, but not HMO (which is what I have). We already have met our out of pocket expenses for the year for them.
            If they refuse to pay though, are we then responsible for the rest?

            Still confused

            sandy

            p.s. have not seen that movie yet. But have seen ratatoille

            Comment


            • #7
              Re: Genetic Test for a Big Heart Has Big Benefits

              Yes, I am somewhat unclear about that insurance thing too. I don't think that the insurance will automatically cover it. I think that is an individual question for each insurance company, and if they do cover it, then the $530 or whatever it is would be the portion that is the patient's responsibility.
              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


              • #8
                Re: Genetic Test for a Big Heart Has Big Benefits

                At this time the company has advised the HCMA that they will not balance bill patients and will except what ever insurance pays... as I said I am not sure how long this policy will be in place.

                Lisa
                Knowledge is power ... Stay informed!
                YOU can make a difference - all you have to do is try!

                Dx age 12 current age 46 and counting!
                lost: 5 family members to HCM (SCD, Stroke, CHF)
                Others diagnosed living with HCM (or gene +) include - daughter, niece, nephew, cousin, sister and many many friends!
                Therapy - ICD (implanted 97, 01, 04 and 11, medication
                Currently not obstructed
                Complications - unnecessary pacemaker and stroke (unrelated to each other)

                Comment


                • #9
                  Re: Genetic Test for a Big Heart Has Big Benefits

                  We also have BC/BS, our particular plan does cover the test. Because it covers the test we are only responsible for what our out of pocket expense would be. Because we have already reached our family Maximum out of Pocket expense, the test will actually not cost us anything. I am excited that this option is here, because the lab that our doctor had referred us to before wouldn't bill our insurance company, this made it kind of a pain to deal with. This is a great benefit to all, and the paperwork is easy to fill out. The test can actually be performed in your PCP's office. The lab says that typically the samples are sent via FedEx. It is kind of funny because my doctors office called today to see when we would be coming in for the test. I think that we will be the first family that they have had tested for HCM with Genetic testing. I will keep everyone updated on how it goes for us.

                  Comment


                  • #10
                    Re: Genetic Test for a Big Heart Has Big Benefits

                    I am very interested in this testing and will definitely be looking into it. I had some genetic testing done when I was at the Mayo in 2002. For some reason though I'm thinking it was "blind" testing at the time and they said there were no guarantees that I would ever hear anything about any of the results. Does this sound right?? Is there any way I can get the results? I would like to know something.
                    Heather, 43, non-obstructive HCM, dx'd at age 14, AICD implanted 11-02, PVAI ablation done for a-fib and a-flutter 5-2010. 2nd PVAI done for a-flutter and a-tach 3-2014. 3rd PVAI for a-flutter June 2015, dr forgot to reset ICD settings and I went into vt and almost died, July 2015, July 2015-started tx work up, October 2015, put on list in Dallas and tx'd on November 14, 2015.

                    Comment


                    • #11
                      Re: Genetic Test for a Big Heart Has Big Benefits

                      Some early research participants have never heard results for a number of reasons. 1. no mutation was found in the areas that researcher was looking. 2. They ran out of blood to sample and never requested more. 3.The sample became too old and was no longer useful. 4. Some labs ran out of funding and moved on to other projects.

                      If you had participated in research in the past and have not heard results I would make two suggestions.
                      1. Call the lab and check the status of the research and your test.
                      2. If the lab has no results for you look into the 2 labs doing testing now and speak to your insurance carrier to make the best choice for you and your family.

                      Best wishes,
                      Lisa
                      Knowledge is power ... Stay informed!
                      YOU can make a difference - all you have to do is try!

                      Dx age 12 current age 46 and counting!
                      lost: 5 family members to HCM (SCD, Stroke, CHF)
                      Others diagnosed living with HCM (or gene +) include - daughter, niece, nephew, cousin, sister and many many friends!
                      Therapy - ICD (implanted 97, 01, 04 and 11, medication
                      Currently not obstructed
                      Complications - unnecessary pacemaker and stroke (unrelated to each other)

                      Comment


                      • #12
                        Re: Genetic Test for a Big Heart Has Big Benefits

                        How long does this testing normally take? Felix sent in his sample about 1 /2 weeks ago (9/13). Do they charge your credit card quickly, or wait a while? What about the insurance billing? FElix may have to switch insurance coverage by the end of Oct.

                        Lucky for us, Dr Maron filled in the paperwork that we needed and then sent it overnight to us, so that we could fill in the rest and then send it in with the sample.


                        Thanks!
                        sandy

                        Comment


                        • #13
                          Re: Genetic Test for a Big Heart Has Big Benefits

                          Testing takes about 6 weeks regardless of which lab you use. Billing questions should be directed to the company you are dealing with, I do not have specific information their billing policies and procedures.

                          Lisa
                          Knowledge is power ... Stay informed!
                          YOU can make a difference - all you have to do is try!

                          Dx age 12 current age 46 and counting!
                          lost: 5 family members to HCM (SCD, Stroke, CHF)
                          Others diagnosed living with HCM (or gene +) include - daughter, niece, nephew, cousin, sister and many many friends!
                          Therapy - ICD (implanted 97, 01, 04 and 11, medication
                          Currently not obstructed
                          Complications - unnecessary pacemaker and stroke (unrelated to each other)

                          Comment


                          • #14
                            Re: Genetic Test for a Big Heart Has Big Benefits

                            Hi folks,

                            I'm going through genetic testing myself right now but not for HCM, for VHL (Von Hippel Lindau). I was told that the first series may come back as early as three weeks, but if nothing shows up there they run a second series that takes much longer, sometimes many months. My blood was drawn on July 30th and sent to Johns Hopkins. No results yet.

                            Does anyone know what the difference is between the two different DNA tests they do for you? All I know is that the second one is called something like a 'negative' genetic sequence.

                            Also, I was told that some places (like Childrens Hospital in Philly) get results back very fast, whereas other places (like Johns Hopkins) take much longer. Anyone have experience with Johns Hopkins and how long did it take to get your results back?

                            Thanks much,

                            Jim
                            "Some days you're the dog... some days you're the hydrant."

                            Comment


                            • #15
                              Re: Genetic Test for a Big Heart Has Big Benefits

                              I'm sorry, I have no idea. Are they running these tests for diagnostic reasons or for research?
                              Reenie

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

                              Comment

                              Working...
                              X