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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.
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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.
* 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.
Good question.
No clue.
Ask your specialist? 
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