Monday, 9 May 2011

Finding out you are a cystic fibrosis carrier

A couple of weeks ago I had the pleasure of chatting the Genomes Unzippped bloggers on the sunny terrace of the Sanger Institute. Luke Jostins let slip that his personal genomics results held a few surprises, not least that he was a carrier for cystic fibrosis (CF). He has yet to write about the results in detail, so I took the opportunity to interview him about his CF carrier status.

Had you any prior indication that you may be a CF carrier?

No, I have no family history of CF at all.

What was your reaction to finding out?

At first, I overestimated how common this level of risk is. My initial reaction was "well, everyone has something wrong with them". It was only when I started talk to other people, and then to my clinician, that I realised that this was a relatively serious situation.

In retrospect, I am relieved that I know. The chance of my children or other family members developing CF is still relatively low, but at least now we can be aware of the possibility.

What particular mutation do you carry?

The mutation is G551D. There is some evidence that this mutation has a slightly less severe a phenotype then the more common F508del [1], but it is still one of the most severe CF mutations. One positive about the G551D mutation is that there is a specific drug in development, Vx-770, which is specifically designed for CF patients with this mutation, and has showed strong promise in trials so far [2].

Has anyone else in your family been tested as a result?

My parents have been, so we know which side of the family it comes from. My brother has yet to decide.

Are you pleased to have found out at this stage in your life?

I am certainly pleased to have discovered this before I started a family, and it is certainly preferable to only finding out when your child develops CF. If and when I decide to have children, I will be in a good position to decide what to do next (and, as I mentioned before, the chance of a partner being a CF carrier as well is still relatively low).

How do you feel about publically sharing this information?

I am very committed to the idea that genetic information is not something to be scared of, and definitely not something to be ashamed of. If other people want to know about my genetic risks, or can learn something from my DNA, I would be delighted.

The only issue is whether this would impact my family, but I have discussed the Genomes Unzipped data release in detail with them, and they are very happy for me to share my information.

Do you think CF carrier status should be routinely tested in newborns?

I think carrier screening for a host of Mendelian genetic diseases should become routine as soon as the cost falls enough to make it feasible.

Many thanks Luke!

[1] McKone, E., Emerson, S., Edwards, K., & Aitken, M. (2003). Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study The Lancet, 361 (9370), 1671-1676 DOI: 10.1016/S0140-6736(03)13368-5

[2] Dolgin E (2011). Mutation-specific cystic fibrosis treatments on verge of approval. Nature medicine, 17 (4), 396-7 PMID: 21475213

Related posts:
Does having children affect views on genetic testing? - An analysis of GUZ survey data
My cancer scan results
Genotyping journalists
Questions to ask before buying an internet genetics test


  1. There should be no stigma about discussing this information. Thank you for sharing your results.

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  4. Great post, impressive and very well detailed, thanks a lot for this great article!

  5. Thank you so much, yes it did take a lot of research and rewrites, I am really glad that you found it useful.

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