genetic testing for new mutation specific drugs?

[Shaunessy]

Jake was last screened for CF mutations around 2002. They identified one dF508 but not his second mutation. This makes me think they missed a missense mutation?

Now that these new mutation specific drugs are coming out, we'd like Jake to get screened again. He asked his CF center about this but they were confident that his insurance claim will be denied because he already has a CF diagnosis.

Has anyone been successful in getting the full Ambry panel paid for based on the possibility of using these new drugs? Or is that just crazy talk?!

 

[Shaunessy]

Jake was last screened for CF mutations around 2002. They identified one dF508 but not his second mutation. This makes me think they missed a missense mutation?

Now that these new mutation specific drugs are coming out, we'd like Jake to get screened again. He asked his CF center about this but they were confident that his insurance claim will be denied because he already has a CF diagnosis.

Has anyone been successful in getting the full Ambry panel paid for based on the possibility of using these new drugs? Or is that just crazy talk?!

 

[Shaunessy]

Jake was last screened for CF mutations around 2002. They identified one dF508 but not his second mutation. This makes me think they missed a missense mutation?

Now that these new mutation specific drugs are coming out, we'd like Jake to get screened again. He asked his CF center about this but they were confident that his insurance claim will be denied because he already has a CF diagnosis.

Has anyone been successful in getting the full Ambry panel paid for based on the possibility of using these new drugs? Or is that just crazy talk?!

 

[Shaunessy]

Jake was last screened for CF mutations around 2002. They identified one dF508 but not his second mutation. This makes me think they missed a missense mutation?

Now that these new mutation specific drugs are coming out, we'd like Jake to get screened again. He asked his CF center about this but they were confident that his insurance claim will be denied because he already has a CF diagnosis.

Has anyone been successful in getting the full Ambry panel paid for based on the possibility of using these new drugs? Or is that just crazy talk?!

 

[Shaunessy]

Jake was last screened for CF mutations around 2002. They identified one dF508 but not his second mutation. This makes me think they missed a missense mutation?
<br />
<br />Now that these new mutation specific drugs are coming out, we'd like Jake to get screened again. He asked his CF center about this but they were confident that his insurance claim will be denied because he already has a CF diagnosis.
<br />
<br />Has anyone been successful in getting the full Ambry panel paid for based on the possibility of using these new drugs? Or is that just crazy talk?!

 

[triples15]

Hi Shaunessy,

I was diagnosed by sweat test when I was a couple months old in 1980. I'm not sure what year it was when I was first genetically tested (I want to say 1996), but the result came back just as Jake's with one dF508 and the other mutation unknown.

A couple years ago my docs decided they'd like to try to find my second mutation. They did genetic sequencing and found it. I have it written down somewhere but I think it's S954L. At the time it was identified my dr. told me I was the only one identified with this mutation.

My insurance paid 100% for it, and I never received a bill. I'm guessing my dr. and/or cf nurse probably had to do some work to get it paid for. I would think you're doctor could explain the reasons for wanting/needing to find his second mutation. Insurance often just needs a good nudge and they'll pay for things that are initially denied. Your dr./nurse just have to be willing to go to bat for you. That being said though, sometimes no matter how much work is done, the insurance will still deny it.

I completely understand wanting to know the second mutation. He may be able to participate in more specific research, etc. if he knew the second mutation. I would definitely want to know. I don't think it's crazy talk at all <img src="i/expressions/face-icon-small-smile.gif" border="0">.

 

[triples15]

Hi Shaunessy,

I was diagnosed by sweat test when I was a couple months old in 1980. I'm not sure what year it was when I was first genetically tested (I want to say 1996), but the result came back just as Jake's with one dF508 and the other mutation unknown.

A couple years ago my docs decided they'd like to try to find my second mutation. They did genetic sequencing and found it. I have it written down somewhere but I think it's S954L. At the time it was identified my dr. told me I was the only one identified with this mutation.

My insurance paid 100% for it, and I never received a bill. I'm guessing my dr. and/or cf nurse probably had to do some work to get it paid for. I would think you're doctor could explain the reasons for wanting/needing to find his second mutation. Insurance often just needs a good nudge and they'll pay for things that are initially denied. Your dr./nurse just have to be willing to go to bat for you. That being said though, sometimes no matter how much work is done, the insurance will still deny it.

I completely understand wanting to know the second mutation. He may be able to participate in more specific research, etc. if he knew the second mutation. I would definitely want to know. I don't think it's crazy talk at all <img src="i/expressions/face-icon-small-smile.gif" border="0">.

 

[triples15]

Hi Shaunessy,

I was diagnosed by sweat test when I was a couple months old in 1980. I'm not sure what year it was when I was first genetically tested (I want to say 1996), but the result came back just as Jake's with one dF508 and the other mutation unknown.

A couple years ago my docs decided they'd like to try to find my second mutation. They did genetic sequencing and found it. I have it written down somewhere but I think it's S954L. At the time it was identified my dr. told me I was the only one identified with this mutation.

My insurance paid 100% for it, and I never received a bill. I'm guessing my dr. and/or cf nurse probably had to do some work to get it paid for. I would think you're doctor could explain the reasons for wanting/needing to find his second mutation. Insurance often just needs a good nudge and they'll pay for things that are initially denied. Your dr./nurse just have to be willing to go to bat for you. That being said though, sometimes no matter how much work is done, the insurance will still deny it.

I completely understand wanting to know the second mutation. He may be able to participate in more specific research, etc. if he knew the second mutation. I would definitely want to know. I don't think it's crazy talk at all <img src="i/expressions/face-icon-small-smile.gif" border="0">.

 

[triples15]

Hi Shaunessy,

I was diagnosed by sweat test when I was a couple months old in 1980. I'm not sure what year it was when I was first genetically tested (I want to say 1996), but the result came back just as Jake's with one dF508 and the other mutation unknown.

A couple years ago my docs decided they'd like to try to find my second mutation. They did genetic sequencing and found it. I have it written down somewhere but I think it's S954L. At the time it was identified my dr. told me I was the only one identified with this mutation.

My insurance paid 100% for it, and I never received a bill. I'm guessing my dr. and/or cf nurse probably had to do some work to get it paid for. I would think you're doctor could explain the reasons for wanting/needing to find his second mutation. Insurance often just needs a good nudge and they'll pay for things that are initially denied. Your dr./nurse just have to be willing to go to bat for you. That being said though, sometimes no matter how much work is done, the insurance will still deny it.

I completely understand wanting to know the second mutation. He may be able to participate in more specific research, etc. if he knew the second mutation. I would definitely want to know. I don't think it's crazy talk at all <img src="i/expressions/face-icon-small-smile.gif" border="0">.

 

[triples15]

Hi Shaunessy,
<br />
<br />I was diagnosed by sweat test when I was a couple months old in 1980. I'm not sure what year it was when I was first genetically tested (I want to say 1996), but the result came back just as Jake's with one dF508 and the other mutation unknown.
<br />
<br />A couple years ago my docs decided they'd like to try to find my second mutation. They did genetic sequencing and found it. I have it written down somewhere but I think it's S954L. At the time it was identified my dr. told me I was the only one identified with this mutation.
<br />
<br />My insurance paid 100% for it, and I never received a bill. I'm guessing my dr. and/or cf nurse probably had to do some work to get it paid for. I would think you're doctor could explain the reasons for wanting/needing to find his second mutation. Insurance often just needs a good nudge and they'll pay for things that are initially denied. Your dr./nurse just have to be willing to go to bat for you. That being said though, sometimes no matter how much work is done, the insurance will still deny it.
<br />
<br />I completely understand wanting to know the second mutation. He may be able to participate in more specific research, etc. if he knew the second mutation. I would definitely want to know. I don't think it's crazy talk at all <img src="i/expressions/face-icon-small-smile.gif" border="0">.

 

[kmaried]

Hi Shaunessy,

I would think you would have better luck getting insurance to pay for the ambry testing once these mutation specific drugs are actually out on the market.

Or maybe, if you wanted to participate in one of the clincial trials, one of the drug companies running the trial would be willing to test you to see if you qualify to participate...

Kris

 

[kmaried]

Hi Shaunessy,

I would think you would have better luck getting insurance to pay for the ambry testing once these mutation specific drugs are actually out on the market.

Or maybe, if you wanted to participate in one of the clincial trials, one of the drug companies running the trial would be willing to test you to see if you qualify to participate...

Kris

 

[kmaried]

Hi Shaunessy,

I would think you would have better luck getting insurance to pay for the ambry testing once these mutation specific drugs are actually out on the market.

Or maybe, if you wanted to participate in one of the clincial trials, one of the drug companies running the trial would be willing to test you to see if you qualify to participate...

Kris

 

[kmaried]

Hi Shaunessy,

I would think you would have better luck getting insurance to pay for the ambry testing once these mutation specific drugs are actually out on the market.

Or maybe, if you wanted to participate in one of the clincial trials, one of the drug companies running the trial would be willing to test you to see if you qualify to participate...

Kris

 

[kmaried]

Hi Shaunessy,
<br />
<br />I would think you would have better luck getting insurance to pay for the ambry testing once these mutation specific drugs are actually out on the market.
<br />
<br />Or maybe, if you wanted to participate in one of the clincial trials, one of the drug companies running the trial would be willing to test you to see if you qualify to participate...
<br />
<br />Kris

 

[just1more]

I'm gonna play devils advocate for a minute:

WHY???

There are no drugs specifically tied to a mutation available while there are some in testing.

However, in a country where we all scream about healthcare costs, why would expect for Insurance to pay for unnecessary expensive testing.

If there is no immediate benefit, why should it be paid for?

 

[just1more]

I'm gonna play devils advocate for a minute:

WHY???

There are no drugs specifically tied to a mutation available while there are some in testing.

However, in a country where we all scream about healthcare costs, why would expect for Insurance to pay for unnecessary expensive testing.

If there is no immediate benefit, why should it be paid for?

 

[just1more]

I'm gonna play devils advocate for a minute:

WHY???

There are no drugs specifically tied to a mutation available while there are some in testing.

However, in a country where we all scream about healthcare costs, why would expect for Insurance to pay for unnecessary expensive testing.

If there is no immediate benefit, why should it be paid for?

 

[just1more]

I'm gonna play devils advocate for a minute:

WHY???

There are no drugs specifically tied to a mutation available while there are some in testing.

However, in a country where we all scream about healthcare costs, why would expect for Insurance to pay for unnecessary expensive testing.

If there is no immediate benefit, why should it be paid for?

 

[just1more]

I'm gonna play devils advocate for a minute:
<br />
<br />WHY???
<br />
<br />There are no drugs specifically tied to a mutation available while there are some in testing.
<br />
<br />However, in a country where we all scream about healthcare costs, why would expect for Insurance to pay for unnecessary expensive testing.
<br />
<br />If there is no immediate benefit, why should it be paid for?