When do you send for genetic testing (e.g., SPINK1, PRSS1, CFTR) in a patient with recurrent or chronic pancreatitis without an obvious etiology and how does it impact your management?

I offer and discuss getting genetic testing in patients with idiopathic recurrent acute pancreatitis or chronic pancreatitis, more frequently in younger patients. Impact of testing can help identify undiagnosed CFTR patients, for whom further CF evaluation and management including options to try new CF therapies can be considered, PRSS1 patients for whom the risk of pancreatic cancer and screening can be discussed. Other mutations are currently less actionable at this time, but can inform an etiology and move away from “idiopathic”.

Send genetic testing in younger patients who have acute recurrent pancreatitis/CP.

Regarding change in management, we of course can’t ‘cure’ their genetic disorder right now but will at least have a reason for why they keep getting the attacks. And if the patient has hereditary pancreatitis, they’re at higher PDAC risk, so we would need to enroll them into a pancreatic cancer screening program.