With the latest scientific advances it’s becoming clear: personal genetics are becoming defined, accessible and affordable.
One of the most popular conversations patients have at cysticfibrosis.com is about genetics…their personal mutations.
Patients receive a mutation from their mother and one from their father. This configuration occurs on the CFTR gene on the 7[SUP]th[/SUP] chromosome affecting their bodies wherever mucus occurs….the lungs, sinuses and pancreas.
These mutations, named with letters and numbers differ in their commonality.
Most patients test with DD508, which, not surprisingly, was one of the mutations most commonly screened in genetic tests.
Formerly, the test included 39 or even 98 mutations, but now it has been found that there are closer to 2500 mutations!
Medications that target only a few of these mutations have been approved.
At our site, these are some of the recurring questions:
Do others have their mutations? Are these targeted drugs working? What can they expect? How long will it take before they experience a difference in their condition?
Can they get the drug in Australia, Iran, Pakistan, etc?
How can they pay for these drugs costing $200,000 to $450,000.00 per year?
They worry about entering clinical trials where they may lose ground.
Then they question whether they will qualify for a clinical trial.
They wonder when a drug will be discovered for their mutation.
Most of all, they cheer each other on!
As more and more mutations are uncovered for this one rare disease (less than 30,000 in the US), it’s my bet that the amount of people testing positive for CF will grow and they will have the opportunity to be helped by the more than 2 dozen drugs in the pipeline!
One of the most popular conversations patients have at cysticfibrosis.com is about genetics…their personal mutations.
Patients receive a mutation from their mother and one from their father. This configuration occurs on the CFTR gene on the 7[SUP]th[/SUP] chromosome affecting their bodies wherever mucus occurs….the lungs, sinuses and pancreas.
These mutations, named with letters and numbers differ in their commonality.
Most patients test with DD508, which, not surprisingly, was one of the mutations most commonly screened in genetic tests.
Formerly, the test included 39 or even 98 mutations, but now it has been found that there are closer to 2500 mutations!
Medications that target only a few of these mutations have been approved.
At our site, these are some of the recurring questions:
Do others have their mutations? Are these targeted drugs working? What can they expect? How long will it take before they experience a difference in their condition?
Can they get the drug in Australia, Iran, Pakistan, etc?
How can they pay for these drugs costing $200,000 to $450,000.00 per year?
They worry about entering clinical trials where they may lose ground.
Then they question whether they will qualify for a clinical trial.
They wonder when a drug will be discovered for their mutation.
Most of all, they cheer each other on!
As more and more mutations are uncovered for this one rare disease (less than 30,000 in the US), it’s my bet that the amount of people testing positive for CF will grow and they will have the opportunity to be helped by the more than 2 dozen drugs in the pipeline!