Genetic testing is useful in the diagnosis of nonhereditary pancreatic conditions: CONCERNS AND OPPORTUNITIES Part 4

CONCERNS AND OPPORTUNITIES Part 4Future developments

The major questions regarding genetic testing in the future will be who to test and when to test them. The technique is appropriate when the following conditions are met:

1. The patient will derive clinical benefit from the test results.

2. The test addresses the clinically relevant mutations.

3. The test is affordable, reliable, and easy to perform.

4. Insurance discrimination and other disincentives are minimal.

5. The patient can give informed consent.

6. The results are properly interpreted and communicated.

It is clear that testing should be undertaken for markers of a very high risk for pancreatitis, such as the PRSS1 R122H and N21I mutations.

Greater opportunities for genetic testing will come with better understanding of the genetic and environmental risk factors for pancreatitis. This goal can be accomplished by means of national studies involving thousands of patients and appropriate controls. We must also develop sensitive and specific methods for the early detection of chronic pancreatitis, and find ways to limit disease progression.
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The development of new molecular diagnostic methods that allow for the simultaneous screening of hundreds of disease-associated mutations would make genetic testing extremely useful. Once these conditions are met, patients with typical features of pancreatitis should be surveyed for environmental factors and offered genetic screening to determine their risk for pancreatitis. Patients who are shown to be at increased risk would then undergo a sensitive and specific confirmatory test (for example, endoscopic ultrasound with biopsy). Effective therapy could be initiated for patients with the diagnosis of early pancreatitis. In this way, a disease like chronic pancreatitis, which cannot be cured, can be readily prevented.

Indeed, we must risk opening the mystical box; is it Pandora’s, or panacea’s, or somewhere in between?

This entry was posted in Pancreatic and tagged Cystic fibrosis transmembrane conductance regulator, Kazal type 1, Pancreatic secretory trypsin inhibitor, Serine protease inhibitor, Trypsin, Trypsinogen.