Yesterday we launched 'Genotype Matters', allowing people with cystic fibrosis to learn more about their genotype, and how it is important in the era of personalised medicine. Dr Janet Allen, Director of Research & Care, has been overseeing the project at the Cystic Fibrosis Trust and here gives some background to it.
I am delighted to announce that we have launched our Genotype Matters campaign. We have been working with the CF centres in this area for a while. We ran a very successful pilot last year where we were able to pay for some of those whose genotype was unknown to have a blood test, and now we are able to extend the offer to all those who have a question mark about their genotype in the CF Registry. Cystic fibrosis is a clinical diagnosis made by expert CF specialists. In the past, the genotype information was provided afterwards and recorded in the CF Registry. However, the early genotyping panels only covered three or four common genotypes. As our knowledge of cystic fibrosis has increased, it has become clear that there are many different CF-causing mutations and not all of these are on the most recent standard test as they are very rare. So, we know that there are about 900 patients in the CF registry (out of just over 10,000) where the genotype record is missing for one or both genes (entered as ? or ??). In the past, knowing the exact genotype was not a high priority as treatment had nothing to do with knowing the genotype.
I am delighted to announce that we have launched our Genotype Matters campaign. We have been working with the CF centres in this area for a while. We ran a very successful pilot last year where we were able to pay for some of those whose genotype was unknown to have a blood test, and now we are able to extend the offer to all those who have a question mark about their genotype in the CF Registry. Cystic fibrosis is a clinical diagnosis made by expert CF specialists. In the past, the genotype information was provided afterwards and recorded in the CF Registry. However, the early genotyping panels only covered three or four common genotypes. As our knowledge of cystic fibrosis has increased, it has become clear that there are many different CF-causing mutations and not all of these are on the most recent standard test as they are very rare. So, we know that there are about 900 patients in the CF registry (out of just over 10,000) where the genotype record is missing for one or both genes (entered as ? or ??). In the past, knowing the exact genotype was not a high priority as treatment had nothing to do with knowing the genotype.
However,
the picture changed with the appearance of ivacaftor (Kalydeco) which is
prescribed for people who carry the G551D mutation. This is the first
genotype-specific treatment and we anticipate that others will appear in the
next few years that are targeted to other mutations. What’s more, it has become
clear that ivacaftor (Kalydeco) can have beneficial effects on some people with
a limited number of very rare mutations (so called non G551D gating mutations)
and is already being used in the US for these very rare mutations. So it now
becomes important that everyone wherever possible knows their genotype.
Clearly, for the vast majority of people with CF this information is available
and in their medical notes. We believe it is your right to know this
information, and if you don’t we urge you to ask at your next clinic visit. If
your doctor says the record in the registry says “?” or “??”, then we will
cover the costs of the most up-to-date test that covers the rare genotypes.
This is quite an expensive test so we are asking your doctor to double check
with us and the CF Registry to make sure we don’t waste this opportunity.
In
the pilot study, we found it was not always possible to identify the genotype even
with the most modern test, because for technical reasons the test isn’t able to
cover the entire gene. So our aim this year is that everyone with cystic
fibrosis knows their genotype based on the most up-to-date test but recognise
that for a small number of people this information will still remain unknown.
Why
does this matter? Ivacaftor is the first of a new generation of treatments that
help certain genotypes. However, even more exciting is the possibility to
correct the mutation in the person’s own gene – so called genetic editing. For
this, the precise genotype information is required. The approach works in the
laboratory but as usual it will take some time before this lab-based work
becomes reality.
You can find out about your genotype, or if you don't know it, learn how to get tested for it, at www.genotypematters.org
You can find out about your genotype, or if you don't know it, learn how to get tested for it, at www.genotypematters.org
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