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©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Oncol. Feb 15, 2019; 11(2): 102-116
Published online Feb 15, 2019. doi: 10.4251/wjgo.v11.i2.102
Identification of patients with pancreatic adenocarcinoma due to inheritable mutation: Challenges of daily clinical practice
Alexander JP Fulton, Angela Lamarca, Christina Nuttall, Lynne McCallum, Rille Pihlak, Derek O’Reilly, Fiona Lalloo, Mairéad G McNamara, Richard A Hubner, Tara Clancy, Juan W Valle
Alexander JP Fulton, Angela Lamarca, Christina Nuttall, Lynne McCallum, Rille Pihlak, Mairéad G McNamara, Richard A Hubner, Juan W Valle, Department of Medical Oncology, The Christie NHS Foundation Trust, Manchester M204BX, United Kingdom
Derek O’Reilly, Hepato-pancreato-biliary Surgical Department, Manchester Royal Infirmary, Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, United Kingdom
Fiona Lalloo, Tara Clancy, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, Manchester M13 9WL, United Kingdom
Author contributions: Fulton AJ and Lamarca A contributed equally to this work; Valle JW and Lamarca A were involved in the project design; Fulton AJ, Lamarca A and Clancy T were involved in data collection and analysis; Fulton AJ and Lamarca A were involved in manuscript drafting; all authors were involved in result interpretation and were involved in final approval of manuscript.
Institutional review board statement: This work was approved by The Christie NHS Foundation Trust Audit Committee (CE15/1575).
Informed consent statement: Consent for images to be used for publication.
Conflict-of-interest statement: Authors have no conflict of interest to declare related to this work.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Angela Lamarca, MD, MSc, PhD, Consultant Medical Oncologist / Honorary Senior Lecturer, Department of Medical Oncology, The Christie NHS Foundation Trust, Division of Cancer Sciences, University of Manchester, Wilmslow Road, Manchester M20 4BX, United Kingdom. angela.lamarca@christie.nhs.uk
Telephone: +44-161-4468106 Fax: +44-161-4463468
Received: August 30, 2018
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
ARTICLE HIGHLIGHTS
Research background
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).
Research motivation
Referrals for genetic consultations for patients diagnosed with pancreatic ductal adenocarcinoma are many times overlooked, probably due to a lack of awareness.
Research objectives
To understand current referral pathway for genetic consultation and areas for potential improvement.
Research methods
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.
Research results
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).
Research conclusions
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.
Research perspectives
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.
