Improving Diagnostics and Treatment for Functional Bowel Disease

6/12/2018

According to recent statistics, at least 1 in every 4 Americans suffers from some form of functional gastrointestinal disease (FGID). These debilitating disorders range from dyspepsia to Irritable Bowel Syndrome (IBS). In some instances, the more devastating chronic inflammatory disorder called Crohn’s Disease can present in the early stages like FGID.

Unfortunately, despite their prevalence, FGIDs have remained notoriously difficult to diagnose, in part because they typically do not involve structural abnormalities. Routine tests—which include X-rays, CT scans and endoscopic exams—often generate inconclusive data. As a result, diagnoses are primarily symptom-based and patients are forced to experiment with diets and other treatments that may or may not relieve their symptoms.

However, a DNA-based diagnostic test developed by U-M clinician and research scientist Dr. Juanita Merchant offers the possibility of a new option—one that could reduce the need for invasive procedures, shorten the time required to make an accurate diagnosis of IBS, and help guide clinicians in prescribing an appropriate, personalized diet for individual patients. Since Crohn’s Disease patients also exhibit alternating bowel habits, the SNP-C variant might also provide some guidance in distinguishing it from its large bowel cousin called ulcerative colitis.

An Advance in Diagnostics and Personalized Medicine
As a practicing clinical gastroenterologist at Michigan Medicine, Dr. Juanita Merchant is well acquainted with the limitations of current FGID diagnostic tools and the resulting impact on patient quality of life. As a research scientist specializing in molecular gastroenterology, her explorations of cell growth in the luminal intestinal tract have resulted in paradigm-shifting contributions to our understanding of the gastric response to chronic inflammation.

In recent years, Merchant and her team turned their attention to developing ways to help clinicians make conclusive diagnoses of specific inflammatory bowel diseases, while simultaneously ruling out cancer or infectious disease.

As she notes, “In attacking problems such as FGID diagnostics, it’s helpful to have physical scientists who understand the clinical aspects of inflammatory bowel disease and who can also study the problems at the molecular level. In my lab, we’ve been looking at specific cells and gene targets that switch the immune system from engaging in positive actions such as fighting bacteria to negative actions such as causing cells to proliferate.”

A Crucial First Step Toward Broad Clinical Use
In 2016, with assistance from the Office of Technology Transfer, Merchant was granted a patent for a biomarker associated with the diagnosis of Irritable Bowel Syndrome and Crohn’s Disease. Known as the Single Nucleotide Polymorphism (SNIP) C Variant Clinical Diagnostic Test, this simple diagnostic process uses an oral swab to generate a definitive clinical diagnosis for IBS and Crohn’s Disease. In essence, this simple, straightforward test eliminates guesswork and delays in making an accurate diagnosis and helps guide clinicians in recommending appropriate and effective treatments—including customized diets.

At present, this novel SNP-based diagnostic test is being piloted in clinical settings, with the expectation that positive results will lead to interest from investors and diagnostic companies to complete clinical development and bring the technology to patients.

“Applications for new clinical diagnostic technologies are extremely difficult to obtain,” Merchant points out. “Each year, only a few such patents are granted. I’ve been very impressed with Innovation Partnerships’s deep knowledge of the patent process and their ability to make the case for this technology from a medical standpoint. Our first patent and others currently in process are an essential step on the way to validating and ultimately moving this new procedure into clinics—where it can have a tangible influence on the lives of patients.”