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
Approximately 10% of patients diagnosed with pancreatic ductal adenocarcinoma (PDAC) report a significant family history of cancer, requiring genetic consultation; 10% of those referred are expected to have a germ-line predisposition (i.e., 1% of the whole PDAC population).
Referrals for genetic consultations for patients diagnosed with pancreatic ductal adenocarcinoma are many times overlooked, probably due to a lack of awareness.
To understand current referral pathway for genetic consultation and areas for potential improvement.
In this study, electronic records of consecutive patients diagnosed with 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.
Of 400 patients eligible, 113 patients (28.3% of the whole population) met referral criteria, only 10 (8.8%) were referred for genetic opinion. Germ-line mutations (BRCA2) were identified in three patients (0.75% of the whole population); one patient was tested due to young age at presentation (not conforming to EUROPAC criteria).
There was a low referral rate even for patients fulfilling EUROPAC criteria. A significant number of patients did not attend the genetic consultation due to deteriorating performance status.
Earlier referral, increased awareness of genetic services/testing amongst clinicians, together with the use of appropriate referral criteria may be required to optimise genetic services referral for patients with PDAC.