Gene Testing

[blondelawyer]

Oops...sorry for the double post!

 

[blondelawyer]

Oops...sorry for the double post!

 

[blondelawyer]

Oops...sorry for the double post!

 

[blondelawyer]

Oops...sorry for the double post!

 

[NoExcuses]

I think if/when drugs come out based on genes, it would be nice to know.

But it seems like there has been a ton of hype on this site lately about finding your mutations - with really not much reasoning behind it.

If you're at a center where they're testing the drug based on your genes, then ya, it's good to know. Or perhaps you're looking for your gene in your family (decendents, cousins, aunts/uncles, siblings). Maybe then it's good to know.

Otherwise, there is 0 relevance. No matter how much people claim this and that is a mild mutation, or such and such says that I should have this clinical outcome, this is wrong. You guys have seen it time and time again. Siblings with the same two mutations turning out to have two totaly different forms of CF. Identical twins even having diferent types of CF.

We all want a chrystall ball. We all want to know how CF will turn out. But those who examin the facts know - knowing your genes will not give you that chrystal ball.

Doing your treatments every day and educating yourself about this disease and seeing your doc every 3 months minimum <b> is your chrystal ball </b>.

 

[NoExcuses]

I think if/when drugs come out based on genes, it would be nice to know.

But it seems like there has been a ton of hype on this site lately about finding your mutations - with really not much reasoning behind it.

If you're at a center where they're testing the drug based on your genes, then ya, it's good to know. Or perhaps you're looking for your gene in your family (decendents, cousins, aunts/uncles, siblings). Maybe then it's good to know.

Otherwise, there is 0 relevance. No matter how much people claim this and that is a mild mutation, or such and such says that I should have this clinical outcome, this is wrong. You guys have seen it time and time again. Siblings with the same two mutations turning out to have two totaly different forms of CF. Identical twins even having diferent types of CF.

We all want a chrystall ball. We all want to know how CF will turn out. But those who examin the facts know - knowing your genes will not give you that chrystal ball.

Doing your treatments every day and educating yourself about this disease and seeing your doc every 3 months minimum <b> is your chrystal ball </b>.

 

[NoExcuses]

I think if/when drugs come out based on genes, it would be nice to know.

But it seems like there has been a ton of hype on this site lately about finding your mutations - with really not much reasoning behind it.

If you're at a center where they're testing the drug based on your genes, then ya, it's good to know. Or perhaps you're looking for your gene in your family (decendents, cousins, aunts/uncles, siblings). Maybe then it's good to know.

Otherwise, there is 0 relevance. No matter how much people claim this and that is a mild mutation, or such and such says that I should have this clinical outcome, this is wrong. You guys have seen it time and time again. Siblings with the same two mutations turning out to have two totaly different forms of CF. Identical twins even having diferent types of CF.

We all want a chrystall ball. We all want to know how CF will turn out. But those who examin the facts know - knowing your genes will not give you that chrystal ball.

Doing your treatments every day and educating yourself about this disease and seeing your doc every 3 months minimum <b> is your chrystal ball </b>.

 

[NoExcuses]

I think if/when drugs come out based on genes, it would be nice to know.

But it seems like there has been a ton of hype on this site lately about finding your mutations - with really not much reasoning behind it.

If you're at a center where they're testing the drug based on your genes, then ya, it's good to know. Or perhaps you're looking for your gene in your family (decendents, cousins, aunts/uncles, siblings). Maybe then it's good to know.

Otherwise, there is 0 relevance. No matter how much people claim this and that is a mild mutation, or such and such says that I should have this clinical outcome, this is wrong. You guys have seen it time and time again. Siblings with the same two mutations turning out to have two totaly different forms of CF. Identical twins even having diferent types of CF.

We all want a chrystall ball. We all want to know how CF will turn out. But those who examin the facts know - knowing your genes will not give you that chrystal ball.

Doing your treatments every day and educating yourself about this disease and seeing your doc every 3 months minimum <b> is your chrystal ball </b>.

 

[NoExcuses]

I think if/when drugs come out based on genes, it would be nice to know.

But it seems like there has been a ton of hype on this site lately about finding your mutations - with really not much reasoning behind it.

If you're at a center where they're testing the drug based on your genes, then ya, it's good to know. Or perhaps you're looking for your gene in your family (decendents, cousins, aunts/uncles, siblings). Maybe then it's good to know.

Otherwise, there is 0 relevance. No matter how much people claim this and that is a mild mutation, or such and such says that I should have this clinical outcome, this is wrong. You guys have seen it time and time again. Siblings with the same two mutations turning out to have two totaly different forms of CF. Identical twins even having diferent types of CF.

We all want a chrystall ball. We all want to know how CF will turn out. But those who examin the facts know - knowing your genes will not give you that chrystal ball.

Doing your treatments every day and educating yourself about this disease and seeing your doc every 3 months minimum <b> is your chrystal ball </b>.

 

[NoExcuses]

I think if/when drugs come out based on genes, it would be nice to know.

But it seems like there has been a ton of hype on this site lately about finding your mutations - with really not much reasoning behind it.

If you're at a center where they're testing the drug based on your genes, then ya, it's good to know. Or perhaps you're looking for your gene in your family (decendents, cousins, aunts/uncles, siblings). Maybe then it's good to know.

Otherwise, there is 0 relevance. No matter how much people claim this and that is a mild mutation, or such and such says that I should have this clinical outcome, this is wrong. You guys have seen it time and time again. Siblings with the same two mutations turning out to have two totaly different forms of CF. Identical twins even having diferent types of CF.

We all want a chrystall ball. We all want to know how CF will turn out. But those who examin the facts know - knowing your genes will not give you that chrystal ball.

Doing your treatments every day and educating yourself about this disease and seeing your doc every 3 months minimum <b> is your chrystal ball </b>.

 

[miesl]

We had Ambry run a full panel on Jeremy.

Four reasons:

1) For the drugs in the pipeline. We go to the U of MN, which is involved in a lot of clinical trials. Our doc wanted to know which mutations J had so we would know if he would qualify for the studies.

2) For PGD. We want to know which mutations are involved.

3) For his family so they know which two mutations they are most likely to have based on family history (and they got the full lecture from me that just because they don't have those two doesn't mean they don't have a CF gene from the non-related parent)

4) Insurance paid for it - diagnostic testing.

 

[miesl]

We had Ambry run a full panel on Jeremy.

Four reasons:

1) For the drugs in the pipeline. We go to the U of MN, which is involved in a lot of clinical trials. Our doc wanted to know which mutations J had so we would know if he would qualify for the studies.

2) For PGD. We want to know which mutations are involved.

3) For his family so they know which two mutations they are most likely to have based on family history (and they got the full lecture from me that just because they don't have those two doesn't mean they don't have a CF gene from the non-related parent)

4) Insurance paid for it - diagnostic testing.

 

[miesl]

We had Ambry run a full panel on Jeremy.

Four reasons:

1) For the drugs in the pipeline. We go to the U of MN, which is involved in a lot of clinical trials. Our doc wanted to know which mutations J had so we would know if he would qualify for the studies.

2) For PGD. We want to know which mutations are involved.

3) For his family so they know which two mutations they are most likely to have based on family history (and they got the full lecture from me that just because they don't have those two doesn't mean they don't have a CF gene from the non-related parent)

4) Insurance paid for it - diagnostic testing.

 

[miesl]

We had Ambry run a full panel on Jeremy.

Four reasons:

1) For the drugs in the pipeline. We go to the U of MN, which is involved in a lot of clinical trials. Our doc wanted to know which mutations J had so we would know if he would qualify for the studies.

2) For PGD. We want to know which mutations are involved.

3) For his family so they know which two mutations they are most likely to have based on family history (and they got the full lecture from me that just because they don't have those two doesn't mean they don't have a CF gene from the non-related parent)

4) Insurance paid for it - diagnostic testing.

 

[miesl]

We had Ambry run a full panel on Jeremy.

Four reasons:

1) For the drugs in the pipeline. We go to the U of MN, which is involved in a lot of clinical trials. Our doc wanted to know which mutations J had so we would know if he would qualify for the studies.

2) For PGD. We want to know which mutations are involved.

3) For his family so they know which two mutations they are most likely to have based on family history (and they got the full lecture from me that just because they don't have those two doesn't mean they don't have a CF gene from the non-related parent)

4) Insurance paid for it - diagnostic testing.

 

[miesl]

We had Ambry run a full panel on Jeremy.

Four reasons:

1) For the drugs in the pipeline. We go to the U of MN, which is involved in a lot of clinical trials. Our doc wanted to know which mutations J had so we would know if he would qualify for the studies.

2) For PGD. We want to know which mutations are involved.

3) For his family so they know which two mutations they are most likely to have based on family history (and they got the full lecture from me that just because they don't have those two doesn't mean they don't have a CF gene from the non-related parent)

4) Insurance paid for it - diagnostic testing.