# Genetic Testing



## cscnursegina (Jan 7, 2012)

Hi everyone.  I was wondering if anyone has had any genetic testing done for their crohn's disease?  I'm worried simply because first of all my genetic testing came back positive along with my biopsy results... I was started and humaria and asacol.... I am thrilled 5 months later to say that i'm in full remission minus the damage done to my joints... thats a whole different story. 
My question remains... has anyone had genetic  (let me get the paper out here so I don't misrepresent myself)....It's called Crohn's prognostic testing... it's the patient result of probability of complications demonstrated by a cure..... it goes by 5 year increments... my results came back *BAD*  according to this genetic test in 5 years I have a 80% chance quoting here, "shown to correlate with a more complicated disease course and a faster disease progression rate."

Please has anyone else gone through this testing- and what is your thoughts on this?  

ALSO... has anyone had their children genetically tested?   I have a 5 year old that has significant bowel constipation and is on medication since she was 2 for this... it's the same course that I had as a child.  My husband refuses to get the blood test done on her.  What is your thoughts?  I have mixed thoughts on this.  

I'd appreciate any feedback!



-Regina

30yrs old. 
on Humaria and Asacol Plus a bunch of other stuff for my other condition (pseudotumor cerebri... anyone else have this too?  plus a brain shunt. 
have been on prednisone (evil med), I can't remember- but was another "steroid" for the gut, been through many CT's, colonscopy's, EGD's, Had gastric bypass prior to knowing I had crohn's -regret that move now! Strangulated bowel requiring emergency surgery.... scheduled to have my gallbladder removed this month, a hernia repair and also a liver biopsy at the same time.... Depressed because I can't work as a nurse and because... as my doctor put it- I look like i'm a ghost *pale*  aren't we all?    I just hope it gets better now that i'm recently in remission!!!


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## DustyKat (Jan 7, 2012)

Hey Regina,

No prognostic testing done at this end, I don't know that the test is available in Australia yet. 

As parent I don't have Crohn's and neither does my husband but both of our children do. They were never genetically tested bit I can see where you would have mixed about having it done. 
Personally, I would it done, particularly as your daughter has similar symptoms to you as a child. I look at it this way, not testing means you don't know if it may be lurking but it doesn't change the fact that she may develop it if she is predisposed. As a sufferer yourself you are already on heightened alert and I would want to know if she does carry the genetic traits for it...forewarned is forearmed...and there is less chance of your imagination running wild. As a Mum I think you know what I mean by that. :wink: 

As to yourself, are you being monitored for your levels of B12, Iron Stores, Folate and Vit D? 

Dusty. xxx


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## Dexky (Jan 7, 2012)

I agree with Dusty.  Since your daughter is already having bowel problems, you may head off future serious complications.  

Why did you have a liver biopsy?  I ask because my son has PSC along with his crohns.  I also wonder if the possible preemption of your daughter's situation might also be important in that regard.  Though the doctors never said PSC was caused by crohns nor vice-versa, there does seem to be a strong correlation.


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## DustyKat (Jan 7, 2012)

> Though the doctors never said PSC was caused by crohns nor vice-versa, there does seem to be a strong correlation.


Really Dex? I never knew they said that to you. I wonder why they wouldn't say it's related when it is a known complication of IBD, albeit a rarer one. 

Dusty. xxx


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## suschex (Jan 7, 2012)

I am so glad I found this post!  I would be very interested in having the testing for myself!  I also have two young chi.dren (5 and almost 7 yrs.) who both have issues that concern me about IBD.  I may have other questions once this all sinks in.  If I could head off my kids disease (if they have it) in any way with early dx I think it would be great!


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## lowone (Jan 7, 2012)

I am still awaiting the results from mine.  This is the company doing mine they have several different genetics tests for crohn's and other stuffs. They have 2 sites one for patients and one for doctors but you can read both.

http://www.prometheuspatients.com/
http://www.prometheuslabs.com/


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## lancek (Jan 7, 2012)

I think the research is trying to go with testing for an individual's genes, but I don't know how experimental it still is.  I plan to ask my son's doctor about it.  I remember one of the doctors on a CCFA podcast encouraged everyone with Crohn's to be tested for specific genes, but I don't remember all of the details.


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## Mountaingem (Jan 7, 2012)

My husband and I both had genetic testing done, both came back positive on several markers. I have active Crohn's; my husband does not. Tests claimed an 88% chance of passing it along to our future children, also there was an indication that the combination of our genetics would cause a degenerative mutation. Translation, our kids would have a more aggressive type of Crohn's with bowel removal at an early age.

First off I'd like to say about this for children; just because they test positive doesn't mean they will develop disease. Many factors contribute to developement, many so complex even the doctors aren't sure why some develop disease and some don't. Also fertility specialists can fertilize the eggs and then test the embryos, only implanting the ones that test negative, selective implantation I think it's called. Personally this was a deal breaker for us. My sis-in-law (husband's sister) has same test results and neither she nor her husband or son has Crohn's symptoms, although her daughter is having a few warning signs.

We were told alcohol use and drug use plays a HUGE part; even just social drinking, not necesarily addictive behavior. For this reason my husband totally gave up alcohol, save for anniversaries and when the Packers go to the Super Bowl. 

I see your are from the U.S.-here, you can be dropped by your insurance company if you test positive for these genetic markers, even with no active disease. You can also be denied insurance on these grounds. My doctor assigned my husband and I numbers when she tested to insure privacy. I thought that since I had a long medical history of Crohn's and my husband's relatives have Crohn's this wouldn't exactly be news to insurance companies, but the doctor said with the actual positive test, they can reject or cancel coverage. My GI said doctor-patient confidentiality would prohibit them from revealing my results; and though I've been treated for it even I do not know all of the specifics, which they feel would prevent me from inadvertently revealing too much about it.

Just like lancek said, the CCFA can provide all the specifics about which tests are appropriate. It has been helpful to me because my GI altered my treatment course to address the specific kind of disease I have; which I believe was done early enough to have prevented alot of problems.

One last thing, and I can't stress it enough, make sure you're ready for the results, maybe get some counseling first. My husband and I thought it wouldn't be a big deal, nothing we didn't already know, but it was devestating to have the proof in front of us.

Sorry it's a long post but I hope it helps-best wishes!


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## suschex (Jan 7, 2012)

Jeannette - Thanks for all the info!


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## Lorimichelle85 (Jan 7, 2012)

Wow I didnt even know that was possible nor has any of my 5 different GI docs ever mention it.. Thanks For The INFO!!!


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## Mountaingem (Jan 8, 2012)

I just want to add that I had mine done 12 years ago-I'm sure great advancements have been made so CCFA is the place to find out all of your options. Best wishes!


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## Miss Underestimated (Jan 8, 2012)

I'be had genetic testing, and also the "prognosis" for me was bad. That's why they want to put me on humira. It alters the course of the disease.

Just a word about insurance - once you've had a health insurance policy for 2 years, it is incontestable. They cannot cancel you or arbitrarily raise your rates because of your claims. 

Fight this thing where they want to put all medical records online. It always changes. They will start lobbying congress to be able to sell the information. They really want to get their hands on this little prize, it's worth a lot of money. 

I'm past the age where it will affect me, but most of you are younger. Don't agree to it. I've lived long enough to see how these things work out in the long run .


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## lancek (Jan 8, 2012)

_It has been helpful to me because my GI altered my treatment course to address the specific kind of disease I have; which I believe was done early enough to have prevented alot of problems._

From what I recall, this is a large part of genetic testing--to try to tailor treatment to each person's genes as well as they can.  That would be a big help to all if that can be done.  Also I think it is to see how different genetic makeups react to various drugs, positively or negatively.  Gives us all hope.  But we need a cure, and we need it now.


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## Dexky (Jan 9, 2012)

DustyKat said:


> Really Dex? I never knew they said that to you. I wonder why they wouldn't say it's related when it is a known complication of IBD, albeit a rarer one.
> 
> Dusty. xxx


They were quick to emphasize the correlation but would not say crohns was the cause.  I think something like only 10% of PSC patients also have IBD and of those most have UC.


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## DustyKat (Jan 9, 2012)

True. 10-15% have IBD and by far the majority are UC, still, a bit coincidental. Do you think it's related? Especially given that EJ has colon involvement with his CD. 

Dusty. xxx


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## Miss Underestimated (Jan 9, 2012)

70% of people who have PSC have IBD of some sort. Most are male. Most are younger. But there are always outliers, and I may be one. Waiting now to find out.


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## lancek (Jan 9, 2012)

May I ask what "PSC" is?


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## Miss Underestimated (Jan 9, 2012)

http://en.wikipedia.org/wiki/Primary_sclerosing_cholangitis


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## lancek (Jan 9, 2012)

Thank you for the link.  Have never before heard of that.


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## Miss Underestimated (Jan 9, 2012)

I hadn't either til they said they wanted to test me for it. My liver enzymes were high, so they wanted to see if anything is wrong, and that was the first one on the list of things to test for.


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## upstateNYgirl (Jan 11, 2012)

Hi Everyone. Thanks for being so open with the information. 

I just wanted to point out that genetic testing may not always be positive for some IBD sufferers. I am one of them. My Prometheus test results said 0 Crohn's markers, but I have had a positive diagnosis for Crohn's by 2 colonoscopies in the past 6 months. With that said, since my symptoms flared in February 2011, I have not reached remission.


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## lancek (Jan 11, 2012)

I personally do not believe that all of the Crohn's genes have been discovered because researchers continue to find additional ones as they go along.  'm just glad to be part of this group and fully realize I'm not alone in my frustrations with Crohn's,  Hopefully, I can serve some useful function here even though I personally do not have IBD.


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## Miss Underestimated (Jan 11, 2012)

upstateNYgirl said:


> Hi Everyone. Thanks for being so open with the information.
> 
> I just wanted to point out that genetic testing may not always be positive for some IBD sufferers. I am one of them. My Prometheus test results said 0 Crohn's markers, but I have had a positive diagnosis for Crohn's by 2 colonoscopies in the past 6 months. With that said, since my symptoms flared in February 2011, I have not reached remission.


I've read about other people getting negative results on the Prometheus tests, but still being diagnosed as Crohns. I agree, they probably haven't discovered all the genes yet, and at this point, Prometheus tests are not conclusive for everyone.


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## lowone (Jan 31, 2012)

lowone said:


> I am still awaiting the results from mine.


Weeee. Quote myself 

Well less then exciting, my GI doc called and she gave me a quick summery of not so good results from the Prometheus prognostic tests.  60% chance of crohn's getting significantly worse in the next 5~10 years... She did listen to my questions and gave some answers. She said we will go over the genetic tests results in depth at my next appointment.


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## Miss Underestimated (Jan 31, 2012)

I had a bad prognosis too. But, if the tests work for you, it tells the doctor whether or not you will respond to Humira and Remicade. I guess it's better to know than not know, although my 25 years of not knowing weren't too bad - until I almost died. sigh.


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## AlliMc (Nov 15, 2013)

Hi! I think I may become the queen of "reviving old threads"." Question: how does Prometheus testing differ from 23andme? I've had the testing done on my little guy ( Crohn's, age 11), and he has a whole host of markers. How are these used to tailor the treatment? Forgive me if you've answered this already.


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## LucyCarroll (Nov 16, 2013)

My prognostic testing came back at 60 percent so my doc was anxious to put me on Humira. Then Humira quit working and now I am waiting to see what comes next.


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## nancy2360 (Aug 12, 2017)

My daughter has 13 years of confirmed Crohn's, colonoscopy/ct scan/endoscopy, yet her DNA test came back negative. She is now responsible for a $700.00 bill, which her insurance won't cover, because these tests come back false/negatve too often. Thank you Dr. Katz


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