I've been participating in the Coriell Institute for Medical Research's study investigating the "utility of personalized genomic information on health and health behavior". Basically, I gave them a saliva sample and they've been sending reports based on a questionnaire I completed, as well as the genetic results from the saliva sample. The most recent research study report was on the risk of developing Crohn's Disease based on the CPMC Crohn's Disease Variant 1, Family History, and Smoking Status. I was rather perplexed as to why the study specifically targets CD rather than IBD in general, but haven't delved into that yet.
My results showed 2 copies of the non-protective variant, which puts me at a higher risk to develop CD compared to someone with 1 or 2 copies of this protective genetic variant. 1 in 100 people have 2 copies of the non-protective variant. I'm so special. There's also a higher risk due to family history (brother w/Crohn's). Smoking was the last factor that can be a determinant (I don't smoke, never have).
According to the study, CD can be caused by both genetic factors and non-genetic (or environmental) risk factors. It is estimated that non-genetic factors (like cigarette smoking) account for about 46% of the risk of CD.
It is estimated that that 54% of the risk for CD is based on genetic risk factors. This estimate accounts for both known and unknown gene variants.
They stressed that there are many different genetic and non-genetic risk factors that contribute to the risk of CD. They were only able to tell me about one genetic and one non-genetic risk factor at this time.
I've never gotten a clear answer as to whether I have CD at this time - UC was dx'd when my colon was removed, but I recently found out that I also had abscesses, fistulas and fissures at that time, which makes me question the original dx.
This study also investigates how we use the information we are given; for example, will we share it with our doctors, family, will we adjust our lifestyles, etc. While the results are not causing me to worry and fret for myself, I do worry for my brothers and sisters and their kids and so forth, so have shared it with them. About a year ago (prior to this study being released), I mentioned the study to Dr. Shen, but he didn't place much import on it, and neither did my PCP - there are SO many genetic variants, and who's to say I don't have some other protectant variant that has not been discovered?
Anyhow, thought this was interesting and wanted to share.
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