Interpretation of test results
The results of genetic testing have implications for both the subject and his or her extended family. Roughly 80% of individuals with either the R122H or the N29I trypsinogen mutation will experience at least one episode of acute pancreatitis (ie, the disease penetrance is 80%). About one-half of clinically affected persons with either mutation will develop symptomatic chronic pancreatitis, and there is an increased risk of pancreatic cancer. Furthermore, there is a 50% chance of passing on the mutation to each child.
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In asymptomatic individuals, a positive test result signifies an increased risk of pancreatitis, which possibly diminishes with age. A negative test result in a patient whose family is known to harbour a pancreatitis-associated gene mutation essentially eliminates the risk of developing that particular genetic form of pancreatitis. On the other hand, if such a mutation has not been previously identified in the family, then a negative test result in an asymptomatic person is considered ‘noninformative’ because the subject might have inherited a different pancreatitis-causing mutation.
The situation with CFTR and SP1NK1 mutations is more complex because pancreatitis-associated mutations occur in more than 1% of North American Caucasians, even though the prevalence of chronic pancreatitis is small (1 of 16,000 persons). Identification of one of the common pancreatitis-associated mutations of these genes in a patient with pancreatitis suggests that the mutation contributed to the etiology of pancreatitis, whereas the same mutation in an unaffected individual confers only a slight risk (approximately 5%) of ever experiencing pancreatitis.