New mutations being found all the time?

[annonymous]

I lurk here once in awhile and I always see people saying that new mutations are being found all the time.
Five years have passed since my son had the full Ambry done in 2006. I contacted Ambry about having him tested again and was told that only ONE mutation has been found since his original test in 2006.
My question is, how do you determine how often to have the test repeated?

 

[annonymous]

I lurk here once in awhile and I always see people saying that new mutations are being found all the time.
Five years have passed since my son had the full Ambry done in 2006. I contacted Ambry about having him tested again and was told that only ONE mutation has been found since his original test in 2006.
My question is, how do you determine how often to have the test repeated?

 

[annonymous]

I lurk here once in awhile and I always see people saying that new mutations are being found all the time.
<br />Five years have passed since my son had the full Ambry done in 2006. I contacted Ambry about having him tested again and was told that only ONE mutation has been found since his original test in 2006.
<br />My question is, how do you determine how often to have the test repeated?

 

[just1more]

I don't think there is a clear guideline.

More than that, most insurance will not pay for a repeat of the full Ambry test, since it is exhaustive and checks 1000's of mutations.

If you changed insurance you *might* get them to repeat, but your results are going to be the same.

Look at it this way, even if they found 1 a month since 2006 (vs 1 in the 5 years), that would be less than a 1% increase in the number of mutations they check for. And those 1% would be rare and thus account for WAY less than 1% of occurrences.

Sorry, but if Ambry did the full test w/o finding any mutations; the odds are better of getting hit by lightning than having a second test now find the mutation.

 

[just1more]

I don't think there is a clear guideline.

More than that, most insurance will not pay for a repeat of the full Ambry test, since it is exhaustive and checks 1000's of mutations.

If you changed insurance you *might* get them to repeat, but your results are going to be the same.

Look at it this way, even if they found 1 a month since 2006 (vs 1 in the 5 years), that would be less than a 1% increase in the number of mutations they check for. And those 1% would be rare and thus account for WAY less than 1% of occurrences.

Sorry, but if Ambry did the full test w/o finding any mutations; the odds are better of getting hit by lightning than having a second test now find the mutation.

 

[just1more]

I don't think there is a clear guideline.
<br />
<br />More than that, most insurance will not pay for a repeat of the full Ambry test, since it is exhaustive and checks 1000's of mutations.
<br />
<br />If you changed insurance you *might* get them to repeat, but your results are going to be the same.
<br />
<br />Look at it this way, even if they found 1 a month since 2006 (vs 1 in the 5 years), that would be less than a 1% increase in the number of mutations they check for. And those 1% would be rare and thus account for WAY less than 1% of occurrences.
<br />
<br />Sorry, but if Ambry did the full test w/o finding any mutations; the odds are better of getting hit by lightning than having a second test now find the mutation.

 

[hmw]

When it comes to there being more mutations being 'found' all the time...

Ambry doesn't 'look for' any specific set of mutations. They sequence the entire gene to catch any abnormality that may be there. Someone can get the test done several times, and unless Ambry changes how they do the test (i.e. to include a different part of the gene not previously included in the test), I wouldn't think you would get different results, since the same set of genetic material is being examined each time.

The reason that new mutations are 'found' is because different people present with ones that have never before been seen (de novo mutations, for example... or others that just haven't turned up before in testing for whatever reason.) If these individuals have had an Ambry test discover those mutations, they were found in the same part of the gene already examined by anyone else that had an Ambry test.

If I am wrong, hopefully Steve (from Ambry) will see this and correct me.

 

[hmw]

When it comes to there being more mutations being 'found' all the time...

Ambry doesn't 'look for' any specific set of mutations. They sequence the entire gene to catch any abnormality that may be there. Someone can get the test done several times, and unless Ambry changes how they do the test (i.e. to include a different part of the gene not previously included in the test), I wouldn't think you would get different results, since the same set of genetic material is being examined each time.

The reason that new mutations are 'found' is because different people present with ones that have never before been seen (de novo mutations, for example... or others that just haven't turned up before in testing for whatever reason.) If these individuals have had an Ambry test discover those mutations, they were found in the same part of the gene already examined by anyone else that had an Ambry test.

If I am wrong, hopefully Steve (from Ambry) will see this and correct me.

 

[hmw]

When it comes to there being more mutations being 'found' all the time...
<br />
<br />Ambry doesn't 'look for' any specific set of mutations. They sequence the entire gene to catch any abnormality that may be there. Someone can get the test done several times, and unless Ambry changes how they do the test (i.e. to include a different part of the gene not previously included in the test), I wouldn't think you would get different results, since the same set of genetic material is being examined each time.
<br />
<br />The reason that new mutations are 'found' is because different people present with ones that have never before been seen (de novo mutations, for example... or others that just haven't turned up before in testing for whatever reason.) If these individuals have had an Ambry test discover those mutations, they were found in the same part of the gene already examined by anyone else that had an Ambry test.
<br />
<br />If I am wrong, hopefully Steve (from Ambry) will see this and correct me.

 

[mom2owen]

Something I am curious about though is how they learn more about polymorphisms and variants and how they go together (for example, the MVsomething polymorphism and 7T/9T variants causing mild CF). I agree the testing wouldn't have to be done again since the genetic material from each of us doesn't change but I always wonder how to learn more about how they view "disease causing" combinations. So much grey area, I do appreciate the question!

 

[mom2owen]

Something I am curious about though is how they learn more about polymorphisms and variants and how they go together (for example, the MVsomething polymorphism and 7T/9T variants causing mild CF). I agree the testing wouldn't have to be done again since the genetic material from each of us doesn't change but I always wonder how to learn more about how they view "disease causing" combinations. So much grey area, I do appreciate the question!

 

[mom2owen]

Something I am curious about though is how they learn more about polymorphisms and variants and how they go together (for example, the MVsomething polymorphism and 7T/9T variants causing mild CF). I agree the testing wouldn't have to be done again since the genetic material from each of us doesn't change but I always wonder how to learn more about how they view "disease causing" combinations. So much grey area, I do appreciate the question!

 

[hmw]

I absolutely agree with mom2owen. The only way they can determine the significance of certain gene changes is by tracking the people that have them to see how they present. Certain gene combinations that in past years used to be considered benign are now known to be disease causing. So doctors and researchers can never afford to be close-minded or to not stay up to date with current information; it's an ever-evolving field and more is learned every day. And everyone presents differently!

 

[hmw]

I absolutely agree with mom2owen. The only way they can determine the significance of certain gene changes is by tracking the people that have them to see how they present. Certain gene combinations that in past years used to be considered benign are now known to be disease causing. So doctors and researchers can never afford to be close-minded or to not stay up to date with current information; it's an ever-evolving field and more is learned every day. And everyone presents differently!

 

[hmw]

I absolutely agree with mom2owen. The only way they can determine the significance of certain gene changes is by tracking the people that have them to see how they present. Certain gene combinations that in past years used to be considered benign are now known to be disease causing. So doctors and researchers can never afford to be close-minded or to not stay up to date with current information; it's an ever-evolving field and more is learned every day. And everyone presents differently!

 

[amyr]

This keeps me up at night and that is why I am fighting so hard to raise awareness of Atypical CF..There is just so much that is unknown about the "spectrum" of this disease, but for those of us who live in the "spectrum" we need the knowledge to continue to evolve. The pain and suffering that the ambiguity of this disease causes is indescribable.


I don't have the words to express how hard it is to live in the area of the unknown. Parenting a child with special needs is challenging to say the least. Parenting a child with special needs and not having the experiential data to back that what you are doing is right and in the child's best interest paves the way for tremendous fear and guilt.

 

[amyr]

This keeps me up at night and that is why I am fighting so hard to raise awareness of Atypical CF..There is just so much that is unknown about the "spectrum" of this disease, but for those of us who live in the "spectrum" we need the knowledge to continue to evolve. The pain and suffering that the ambiguity of this disease causes is indescribable.


I don't have the words to express how hard it is to live in the area of the unknown. Parenting a child with special needs is challenging to say the least. Parenting a child with special needs and not having the experiential data to back that what you are doing is right and in the child's best interest paves the way for tremendous fear and guilt.

 

[amyr]

This keeps me up at night and that is why I am fighting so hard to raise awareness of Atypical CF..There is just so much that is unknown about the "spectrum" of this disease, but for those of us who live in the "spectrum" we need the knowledge to continue to evolve. The pain and suffering that the ambiguity of this disease causes is indescribable.
<br />
<br />
<br />I don't have the words to express how hard it is to live in the area of the unknown. Parenting a child with special needs is challenging to say the least. Parenting a child with special needs and not having the experiential data to back that what you are doing is right and in the child's best interest paves the way for tremendous fear and guilt.

 

[JennifersHope]

I just got an email from Dr Nick who is the CF doctor at National Jewish, and he basically said the same thing, because one of my mutations has never been described before, He said he has seen people diagnosed, undiagnosed and then rediagnosed with CF many times over the course of their life.

They are still not thinking I have CF because of the Nasal PD but then in the same sentence he said that my CF gene just might be the way it manifests... so complicated and so hard to know what to do.

I have them working so hard to help me get diagnosed properly. I am so complicated because I test positive but have Addison's which is known to cause false positives.. They actually are considering re sweat testing me again, because supposedly once your Addison's is under control you should not still test for a false positive.

National Jewish has never in their entire history have a patient test positive for CF via sweat tests, two genes and then have a negative Nasal PD, so they are joining the club of confused people. Though like I said they are still leaning toward not having it. They are working on trying to figure out what is going on with me....

I don't know what I am supposed to do, and I have to be okay with that. We are just doing the best we can.

 

[JennifersHope]

I just got an email from Dr Nick who is the CF doctor at National Jewish, and he basically said the same thing, because one of my mutations has never been described before, He said he has seen people diagnosed, undiagnosed and then rediagnosed with CF many times over the course of their life.

They are still not thinking I have CF because of the Nasal PD but then in the same sentence he said that my CF gene just might be the way it manifests... so complicated and so hard to know what to do.

I have them working so hard to help me get diagnosed properly. I am so complicated because I test positive but have Addison's which is known to cause false positives.. They actually are considering re sweat testing me again, because supposedly once your Addison's is under control you should not still test for a false positive.

National Jewish has never in their entire history have a patient test positive for CF via sweat tests, two genes and then have a negative Nasal PD, so they are joining the club of confused people. Though like I said they are still leaning toward not having it. They are working on trying to figure out what is going on with me....

I don't know what I am supposed to do, and I have to be okay with that. We are just doing the best we can.