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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

19 comments:

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

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  2. This comment has been removed by a blog administrator.

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  3. This comment has been removed by a blog administrator.

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

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  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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  8. WHAT A GREAT MIRACLE THAT I HAVE EVER SEE IN MY LIFE. My names are Clara David I’m a citizen of USA, My younger sister was sicking of breast cancer and her name is Sandra David I and my family have taking her to all kind of hospital in USA still yet no good result. I decided to make search for cancer cure so that was how I find a lady called peter Lizzy she was testifying  to the world about the goodness of a herbal man who has the roots and herbs to cure all kind of disease and the herbal man email was there. So I decided to contact the herbal man @herbalist_sakura for my younger sister help to cure her breast cancer. I contacted him and told him my problem he told me that I should not worry that my sister cancer will be cure, he told me that there is a medicine that he is going to give me that I will cook it and give it to my sister to drink for one week, so I ask how can I receive the cure that I am in USA, he told me That I will pay for the delivery service. The courier service can transport it to me so he told me the amount I will pay, so my dad paid for the delivery fee. two days later I receive the cure from the courier service so I used it as the herbal man instructed me to, before the week complete my sister cancer was healed and it was like a dream to me not knowing that it was physical I and my family were very happy about the miracle of Doctor so my dad wanted to pay him 5 million us dollars the herbal man did not accept the offer from my dad, but I don't know why he didn't accept the offer, he only say that I should tell the world about him and his miracle he perform so am now here to tell the world about him if you or your relative is having any kind of disease that you can't get from the hospital please contact dr.sakuraspellalter@gmail.com or whats app him +2348110114739  you can follow him up on Instagram @herbalist_sakura for the cure, he will help you out with the problem. And if you need more information about the doctor you can mail me davidclara223@gmail.com 

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  9. WHAT A GREAT MIRACLE THAT I HAVE EVER SEE IN MY LIFE. My names are Clara David I’m a citizen of USA, My younger sister was sicking of breast cancer and her name is Sandra David I and my family have taking her to all kind of hospital in USA still yet no good result. I decided to make search for cancer cure so that was how I find a lady called peter Lizzy she was testifying  to the world about the goodness of a herbal man who has the roots and herbs to cure all kind of disease and the herbal man email was there. So I decided to contact the herbal man @herbalist_sakura for my younger sister help to cure her breast cancer. I contacted him and told him my problem he told me that I should not worry that my sister cancer will be cure, he told me that there is a medicine that he is going to give me that I will cook it and give it to my sister to drink for one week, so I ask how can I receive the cure that I am in USA, he told me That I will pay for the delivery service. The courier service can transport it to me so he told me the amount I will pay, so my dad paid for the delivery fee. two days later I receive the cure from the courier service so I used it as the herbal man instructed me to, before the week complete my sister cancer was healed and it was like a dream to me not knowing that it was physical I and my family were very happy about the miracle of Doctor so my dad wanted to pay him 5 million us dollars the herbal man did not accept the offer from my dad, but I don't know why he didn't accept the offer, he only say that I should tell the world about him and his miracle he perform so am now here to tell the world about him if you or your relative is having any kind of disease that you can't get from the hospital please contact dr.sakuraspellalter@gmail.com or whats app him +2348110114739  you can follow him up on Instagram @herbalist_sakura for the cure, he will help you out with the problem. And if you need more information about the doctor you can mail me davidclara223@gmail.com 

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  10. My name is hoover, my 18 year old daughter, Tricia was diagnosed with herpes 3 years ago. Since then, we have moved from one hospital to another. We tried all kinds of pills, but every effort to get rid of the virus was futile. The bubbles continued to reappear after a few months. My daughter was using 200mg acyclovir pills. 2 tablets every 6 hours and 15g of fusitin cream. and H5 POT. Permanganate with water to be applied twice a day, but all still do not show results. So, I was on the internet a few months ago, to look for other ways to save my only son. Only then did I come across a comment about the herbal treatment of Dr Imoloa and decided to give it a try. I contacted him and he prepared some herbs and sent them, along with guidance on how to use them via the DHL courier service. my daughter used it as directed by dr imoloa and in less than 14 days, my daughter recovered her health. You should contact dr imoloa today directly at his email address for any type of health problem; lupus disease, mouth ulcer, mouth cancer, body pain, fever, hepatitis ABC, syphilis, diarrhea, HIV / AIDS, Huntington's disease, back acne, chronic kidney failure, addison's disease, chronic pain, Crohn's pain, cystic fibrosis, fibromyalgia, inflammatory Bowel disease, fungal nail disease, Lyme disease, Celia disease, Lymphoma, Major depression, Malignant melanoma, Mania, Melorheostosis, Meniere's disease, Mucopolysaccharidosis, Multiple sclerosis, Muscular dystrophy, Rheumatoid arthritis Alzheimer's disease, parkinson's disease, vaginal cancer, epilepsy Anxiety Disorders, Autoimmune Disease, Back Pain, Back Sprain, Bipolar Disorder, Brain Tumor, Malignant, Bruxism, Bulimia, Cervical Disc Disease, Cardiovascular Disease, Neoplasms , chronic respiratory disease, mental and behavioral disorder, Cystic Fibrosis, Hypertension, Diabetes, Asthma, Autoimmune inflammatory media arthritis ed. chronic kidney disease, inflammatory joint disease, impotence, alcohol spectrum feta, dysthymic disorder, eczema, tuberculosis, chronic fatigue syndrome, constipation, inflammatory bowel disease. and many more; contact him at drimolaherbalmademedicine@gmail.com./ also with whatssap- + 2347081986098.

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  11. FINALLY FREE FROM CANCER DISEASE.
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  12. Greetings my people i am  here to testify about this  great man called @dr_anuge7  from african i want to inform the world that the cure to HIV is out and real he have the remendy to get you cured from herpes and hiv/aids including other dieases he have help many people including me  the medicine will be in a form of a liquid after preparation you will use it for 23days and you will be free completing he also have remedy for below dieases..  whatsapp him on +2348164866838 or email him dranuge@gmail.com
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    whatsapp him on  +2348164866838 or you can also Email him on dranuge@gmail.com

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  13. I was suffering from ( herpes ) for over 5 years,i was hopeless until one of my friend directed me to a man called Dr ehichoya , she said he cure herpes  disease and also said he has helped her friend to cure herpes  virus, and cure other people with different diseases, i never believed her but after a lot of talk, i decided to give the Dr a try, just few days later i contacted him and he told me what to do which i did and he prepared a herbal medicine and sent to me with prescriptions on how i will take it for a period of days. After i finished taking the medicine he told me to go for a test which i also did and when the result came out i was surprised to see that I'm Negative. Big thanks to him. You can also contact him on his email drehichioyacurehome@gmail.com +234815 271 9187.) if you need his help for heroes , fibroid, HERPES,HIV, CANCER, DIABETES, ANY TYPES OF INFECTION CURE,. and any type of infection. or if you are have any problem contact him for help and you we be free with he herbal medicine......

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  14. Is any one here suffering from any kind of STD or STI ? , Now this is to everyone out there with different health challenges, as I know there are still a lot of people suffering from different health issues and are therefore looking for solution. I bring you Good news. There is a man called Dr. Tokubo a herbal practitioner who helped cure me from Genital herpes, this i had suffered from for the past 2years and have spent so much money trying to survive from it. I got my healing by taking the herbal medicine he sent to me to drink for about 9days . 3days after completion of the dosage, I went for a medical checkup and I was tested Genital Herpes NEGATIVE. I'm sharing this so that other people can know of this great healer called Dr Tokubo because I got to know him through a friend he cured from HIV. I was made to understand that he can cure several other deadly diseases and infections. Don't die in ignorance and don't let that illness take your life. Contact Dr. Tokubo through: drtokubotemple@gmail.com You can also call/whatsapp him on:+2349037990322 Thank you dr tokubo. Be kind enough to share your testimonies as you received your cure.he is good too to cure all type of disease and virus.1 HIV cure
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    3 diabetes
    4 hepatitis
    5 herpes.
    You can contact him if you are having any disease or infection problem...

    ReplyDelete
  15. WHAT A GREAT MIRACLE THAT I HAVE EVER SEE IN MY LIFE. My names are Clara David I’m a citizen of USA, My younger sister was sicking of breast cancer and her name is Sandra David I and my family have taking her to all kind of hospital in USA still yet no good result. I decided to make search for cancer cure so that was how I find a lady called peter Lizzy she was testifying  to the world about the goodness of a herbal man who has the roots and herbs to cure all kind of disease and the herbal man email was there. So I decided to contact the herbal man @herbalist_sakura for my younger sister help to cure her breast cancer. I contacted him and told him my problem he told me that I should not worry that my sister cancer will be cure, he told me that there is a medicine that he is going to give me that I will cook it and give it to my sister to drink for one week, so I ask how can I receive the cure that I am in USA, he told me That I will pay for the delivery service. The courier service can transport it to me so he told me the amount I will pay, so my dad paid for the delivery fee. two days later I receive the cure from the courier service so I used it as the herbal man instructed me to, before the week complete my sister cancer was healed and it was like a dream to me not knowing that it was physical I and my family were very happy about the miracle of Doctor so my dad wanted to pay him 5 million us dollars the herbal man did not accept the offer from my dad, but I don't know why he didn't accept the offer, he only say that I should tell the world about him and his miracle he perform so am now here to tell the world about him if you or your relative is having any kind of disease that you can't get from the hospital please contact dr.sakuraspellalter@gmail.com or whats app him +2348110114739  you can follow him up on Instagram @herbalist_sakura for the cure, he will help you out with the problem. And if you need more information about the doctor you can mail me davidclara223@gmail.com 

    ReplyDelete
  16. My health was horrible before I decided to try the Protocol Of taking Dr Ebhota herbal mixture. I felt there was no hope for my health and I was doubtful to try the Protocol thinking it wouldn’t work because I have visited so many hospital but same result. However, I was convinced by my friend to try the herbal medicine because I wanted to get rid of HPV/WART. The herbal mixture that was given to me was really quick and easy to take, and since I have be taking it for less than 3 days I have less outbreak. But within one week i was fully cured from WART/HPV. The herbal medicine really work and I will like to share this great herb doctor contact with you all email him drebhotasolution@gmail.com or whatsapp +2348089535482. Pls try and help yourself out of warts completely today. he also c My health was horrible before I decided to try the Protocol Of taking Dr Ebhota herbal mixture. I felt there was no hope for my health and I was doubtful to try the Protocol thinking it wouldn’t work because I have visited so many hospital but same result. However, I was convinced by my friend to try the herbal medicine because I wanted to get rid of HPV/WART. The herbal mixture that was given to me was really quick and easy to take, and since I have be taking it for less than 3 days I have less outbreak. But within one week i was fully cured from WART/HPV. The herbal medicine really work and I will like to share this great herb doctor contact with you all email him drebhotasolution@gmail.com o r whatsapp +2348089535482. Pls try and help yourself out of warts completely today. he ure DIABETIES ULCAL CANCER etc.He also told me that he has solution for the flowing.1 Cancer cure2 Diabetes cure3 Ringing ear4 Herpes cure5 Warts cure6 HPV cure7 Get your ex back8 Pregnancy herbal medicine9 Prostate enlargement10 Hepatitis B11 Disability12 Kidney problem Etc.

    ReplyDelete
  17. I can't believe this, Few months back doctor told me that I was HIV positive, I lost all hope in life on one faithful day Murch 15th I came across a woman say about Dr omohan I messaged the woman and she told me that Dr omohan is a very good doctor and Dr omohan helped her to get rid of her HIV illness permanent I ask her for Dr omohan contact she sent it to me and I decided to email him and he told me that all is going to be well with me and I decided to purchased his herbal medicine and used Ups courier service to ship the herbal medicine to me and he also told me how I will used the herbal medicine and I did as he told me behold I am now negative as you awe reading this testimony and pleas whatsApp him on +2348164816038 or email address
    dromohanherbalmedicine@gmail .com
    https://www.fb.com/dromohanherbalmedicin  

    ReplyDelete

  18. I am so Happy to be writing this article in here, i am here to explore blogs forum about the wonderful and most safe cure for HERPES SIMPLEX VIRUS.I was positive to the Virus called HERPES and i lost hope completely because i was rejected even by my closet friends. i searched online to know and inquire about cure for HERPES and i saw testimony about DR Ebhota online on how he cured so many persons from Herpes Disease so i decided to contact the great herbalist because i know that nature has the power to heal everything. i contacted him to know how he can help me and he told me never to worry that he will help me with the natural herbs from God! after 2 days of contacting him, he told me that the cure has been ready and he sent it to me via FEDEX or DHL and it got to me after 4 days! i used the medicine as he instructed me (MORNING and EVENING) and i was cured! its really like a dream but i'm so happy! that's the reason i decided to also add more comment of Him so that more people can be saved just like me! and if you need his help,contact his Email: (drebhotasoltion@gmail.com) You can contact him on WhatsApp +2348089535482 He also have the herb to cure difference cure for any sickness (1) HERPES,
    (2) DIABETES,
    (3) HIV&AIDS,
    (4) URINARY TRACT INFECTION,
    (5) HEPATITIS B,
    (6) IMPOTENCE,
    (7) BARENESS/INFERTILITY
    (8) DIARRHEA
    (9) ASTHMA..

    ReplyDelete

  19. I am so Happy to be writing this article in here, i am here to explore blogs forum about the wonderful and most safe cure for HERPES SIMPLEX VIRUS.I was positive to the Virus called HERPES and i lost hope completely because i was rejected even by my closet friends. i searched online to know and inquire about cure for HERPES and i saw testimony about DR Ebhota online on how he cured so many persons from Herpes Disease so i decided to contact the great herbalist because i know that nature has the power to heal everything. i contacted him to know how he can help me and he told me never to worry that he will help me with the natural herbs from God! after 2 days of contacting him, he told me that the cure has been ready and he sent it to me via FEDEX or DHL and it got to me after 4 days! i used the medicine as he instructed me (MORNING and EVENING) and i was cured! its really like a dream but i'm so happy! that's the reason i decided to also add more comment of Him so that more people can be saved just like me! and if you need his help,contact his Email: (drebhotasoltion@gmail.com) You can contact him on WhatsApp +2348089535482 He also have the herb to cure difference cure for any sickness (1) HERPES,
    (2) DIABETES,
    (3) HIV&AIDS,
    (4) URINARY TRACT INFECTION,
    (5) HEPATITIS B,
    (6) IMPOTENCE,
    (7) BARENESS/INFERTILITY
    (8) DIARRHEA
    (9) ASTHMA..

    ReplyDelete