Ex Myriad Backlash

OMG,

Today I was called a genetic elitist. See Beware Doctors

Let me state equivocally. I am not a genetics elitist, I am simple man from the US who has seen his share of genetics tragedies. I would like to give you an example here.

A 45 year old man in my ICU dies after a Whipple. Why? He had let his weight loss go for several months. He hadn't seen a doctor for 3 years. He knew it could be his cancer, because the doctor told him FAP was cured by colectomy. Even better, he just had a one year old daughter. When I told the primary care physician there was PGD available, he said PG what?

I am not an elitist. I am trying to teach ALL comers genetics and personalized medicine. This guy who posted is clearly a disgruntled "ex-myriad" employee. I am sorry to have hurt his feelings so bad that he needed to call me an elitist. But I put it out here to serve as a warning.

These companies are coming and they are looking for your dollar under the guise of "genetic populism" Don't be fooled. If they were reasonable, then they would want to educate and empower physicians. They would help me design tools other than hand out cards which often get thrown in the trash. The education they choose to portray is not the NORM. "Your patient could have a 100% chance of developing hereditary cancer". That is alarmist!

The Gene Sherpa Says: Mr Wisconsin I am sorry, but you portray/assume too many people as genomic savvy. That is DANGEROUS! We have to keep our defenses up. I am here to guide you, to show you the risks of following the pack, testing without context, and acting on fear. The public needs to be wary of inappropriate testing. Especially until proper genomic non-discrimination law is passed

Lastly, I am hosting Gene Genie tomorrow. Stop by in the afternoon and see what I have in store for you :)

New Crohn's Disease Genes Found

Big news in the world of IBD!

Crohn disease and ulcerative colitis represent the two common forms
of idiopathic inflammatory bowel disease (IBD), each with a prevalence
of roughly 100–150 per 100,000 individuals of European ancestry
This week in Nature Genetics a "genome-wide association study of Crohn disease
and two independent replication studies identify several new regions of association to Crohn disease."

This has been a disease that has multiple postulated causes. Some of the more modern include host-bacteria interaction leading to inflammation and disease. These associations implicate this as a possibility. More importantly they indicate risk of disease
The genes are in addition to CARD15(NOD2) and IL23R.

A coding variant in ATG16L1, the latter of which was also recently reported by another group is proven to be required for pathogenesis of Crohn's Disease. This gene is responsible for a process known as autophagy (required for our intrinsic immune system)

For non-scientsists/physicians

What does this mean? Well alot. If this is true, which it looks likely, then the next step is to clear the bowels(removing bacterium/Salmonella) of these persons with this polymoprhism. This would be another example of the possibility of personalized medicine.
Treatment based on predisposition. I am sure there are also pharma companies looking at halting ATG16L12's function with RNA intereference as demonstrated in this study!