Published online Feb 15, 2019. doi: 10.4251/wjgo.v11.i2.102
Peer-review started: August 30, 2018
First decision: October 26, 2018
Revised: December 6, 2018
Accepted: January 10, 2019
Article in press: January 10, 2019
Published online: February 15, 2019
Identification of germ-line mutations in pancreatic ductal adenocarcinoma (PDAC) could impact on patient/family.
To assess the referral pathways for genetic consultations in PDAC.
Electronic records of PDAC patients were reviewed retrospectively. Patients eligible for genetic consultation referral were identified following the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC) criteria.
Four-hundred patients were eligible. Of 113 patients (28.3%) meeting EUROPAC criteria, 8.8% were referred for genetic opinion. Germ-line mutations were identified in 0.75% of the whole population.
Earlier referrals and increased awareness may be able to overcome the low rate of successful genetic appointments.
Core tip: Electronic records of consecutive patients diagnosed with pancreatic ductal adenocarcinoma (PDAC) were reviewed retrospectively. The European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC) criteria were employed to identify patients eligible for genetic consultation referral. Out of 400 eligible patients, 113 (28.3% of the whole population) met referral criteria, only 10 (8.8%) were referred for genetic opinion. There was a low referral rate even for patients fulfilling EUROPAC criteria and a significant number of patients did not attend the consultation due to deteriorating performance status. Earlier referral, and increased awareness may optimise genetic services referral for patients with PDAC.