Appeal type: Experimental/Investigational
Decision: Overturned

This is a male patient with a long history of chronic abdominal pain. He has a history a cholecystectomy due to gallstones. He had endoscopic retrograde cholangiopancreatography (ERCP) with sphincterotomy for residual stones in the common bile duct. He had an abdominal work up that revealed idiopathic pancreatitis. Based on his family history there were concerns that his pancreatitis may be hereditary. The patient's father suffered with a longstanding history of abdominal pain but was never evaluated for it. He underwent genetic studies; results failed to yield an etiology of the patient's pancreatic condition.

The identification of a genetic cause for pancreatitis is always undertaken and the last study is looking for a genetic source. In addition to cystic fibrosis, there are other genetic abnormalities that could be in the background of this patient's illness. Though genetic testing is not a treatment, it is a means of diagnosing the cause of chronic pancreatitis that cannot be explained by other non-genetic sources. This patient's 10-year of abdominal pain and workup has failed to provide the etiology of this patient's chronic pancreatitis. Literature review supports that one of the differential diagnoses of this patient's clinical presentation is hereditary pancreatitis, which can be confirmed with a genetic testing. 
 
According to Shelton, C. A., & Whitcomb, D. C. (2015), "Genetic susceptibility to pancreatitis and modification of the disease course by other genetic and environmental interactions plays a major role in the onset, severity, involvedness, and outcome of human pancreatic disease. Genetic tests differ from common medical tests used to evaluate pancreatic disease, such as measuring biomarkers (e.g., amylase, lipase), biopsies, or abdominal imaging tests. Such tests reveal structural changes or measure variable processes that are evaluated as indicators of normal biological, pathogenic, or pharmacologic responses to a therapeutic intervention [1]. Alternatively, genetic tests provide insights into the cellular blueprint that determines the molecular components that will be available for use under normal and abnormal conditions, as well as their functional qualities." And though hereditary pancreatitis is rare, Raphael, K. L., & Willingham, F. F. (2016) indicates that "multiple genetic defects in genes involved with inappropriate activation of digestive enzymes in the pancreas, such as PRSS1, CFTR, SPINK1, and CTRC, have been associated with the development of HP and can now be identified with genetic screening." 

With this patient's chronic abdominal pain and history of multiple procedures and workup, including this patient's cholecystectomy and follow-up endoscopic retrograde cholangiopancreatography (ERCP) with sphincterotomy for residual stones in the common bile duct, this patient was diagnosed with idiopathic pancreatitis. This patient's family history provided clinical suspicion that this patient's longstanding abdominal symptoms could be likely due to hereditary pancreatitis. In attempts to properly provide guidance in medical management and prognosis, this patient's risk for hereditary pancreatitis needed to be ruled out with genetic testing. In the case of hereditary pancreatitis, the patient would have had a higher risk for pancreatic cancer, and would have decided to undergo an elective total pancreatectomy for prevention.

The genetic testing is likely to be more beneficial than any of the standard treatment/ procedures for this patient. 

The carrier's denial of genetic testing is reversed.