August 31, 2009

Robert M. Callis, M. D.

7037 St. Andrews Road

Columbia, SC  29212

RE: Celiac disease, rule-in/rule-out, and genetic testing

Dear Robert:

Some uncertain very high percentage of celiac disease patients have the presence of one or both of two genes, as you had mentioned.  There is an additional suspected small percentage who may have it associated with some other gene.  BUT, around 1/3 of the USA population also has that genetic profile.  So, in this day and age of people needing to pay cash-only or higher and higher deductibles, if whether or not someone has celiac disease is the ONLY issue, then genetic testing might solve it if it is negative for the two genes (negativity suggests that the patient is highly unlikely to have celiac disease).  Leukocyte (HLA) genetics can be done by buccal swab or EDTA CBC tube of blood.  ICD-9 coding may be important as to whether a person’s insurance pays any on such tests: 579.0, celiac disease; V18.59, family history of GI disease; and V84.89, genetic susceptibility to disease. 

For some years now (except for the genetic testing element), we have worked closely with Consultants in Gastroenterology (Saleeby and Seabrook, et. al.) and Midlands Endoscopy (Minhas et. al.) on a very sensitive and significantly specific approach to the patient who may have a protein sensitive enteropathy (PSE), the most important of which is gluten sensitive enteropathy (GSE…celiac disease).  We are the only lab that I know of in S.C. doing this.  With sufficient clinical suspicion of a PSE/GSE, the patient is referred to one of these gastroenterologists who (if also concurring in the suspicion) schedules and performs EGD with distal duodenal biopsies.  We perform a marker stain in order to critically assess any biopsy state of “intraepithelial lymphocytosis” (looking for increased IELs by way of the “CD-3 amplified villous tip score”), a hallmark of impending or actual (not just genetic predisposition) PSE.  Those with borderline or definitely elevated concentrations of IELs are then subject to have discriminatory serological testing to discern GSE (serological positivity) from other PSEs (sero-negative). 

At least one or two of the genetics labs who perform the really complete celiac disease genetic testing are able to deal directly with the patient with the buccal specimens and payment arrangements (somewhere between $150-$400). 

It looks like Kimball Genetics (800-320-1807) and Prometheus (888-423-5227) may be the only two labs providing the complete testing (and both probably will deal straight with the patient). 

Sincerely,

Ervin B. Shaw, M. D.