Information exchange between patients with Lynch syndrome and their genetic and non-genetic health professionals: whose responsibility?

Kirsten F L Douma,Niki M Medendorp,Emmelyn A J Croes,Ellen M A Smets,Fonnet E Bleeker

doi:10.1007/s12687-018-0381-5

Abstract

Individuals at high risk for Lynch syndrome (LS) should be offered genetic counselling, since preventive options are available. However, uptake of genetic services and follow-up care are currently suboptimal, possibly caused by inadequate exchange of information. Therefore, this qualitative study aims to gain insight in the process of information exchange between patients diagnosed with LS and their non-genetic (i.e., general practitioner, gastroenterologist, gynaecologist) and genetic (i.e., clinical geneticist or genetic counsellor) health professionals concerning referral for genetic counselling and follow-up care. Participants comprised 13 patients diagnosed with LS (8 index patients and 5 of their affected relatives) and 24 health professionals (6 general practitioners, 8 gastroenterologists, 6 gynaecologists and 4 genetic health professionals). Analysis of the interview transcripts was performed in parallel and again after the interviews, following guidelines for qualitative research and using MAXQDA software. The main finding is that patients may ‘get lost’ between health professionals who lack a clear overview of their own and each other’s role and responsibilities in the referral and follow-up care for patients with possible LS. Education of non-genetic health professionals and optimisation of communication between health professionals might help to enable more timely diagnosis of LS and allow patients to address their doubts and questions to the most appropriate healthcare professional.

Highlights

Lynch syndrome (LS) is an autosomal dominant disorder which gives a 25–70% lifetime risk for colon cancer in most cases (Vereniging Klinische Genetica Nederland 2015)
Why do patients get lost during the referral process? From a patient’s perspective, a lack of knowledge was perceived in the non-genetic health professionals’ (HPs) during the referral process
Our study suggests that the information exchange between HPs could be organised in clearer pathways which explicitly state the role of all parties involved (West et al 2017), for example, including structured family history and letters after each contact to all treating physicians in and out their hospital including general practitioner (GP)

Summary

Introduction

Lynch syndrome (LS) is an autosomal dominant disorder which gives a 25–70% lifetime risk for colon cancer in most cases (Vereniging Klinische Genetica Nederland 2015). The chance for a patient to be at risk for LS should be identified by the patient’s general practitioner (GP), gastroenterologist (GE) or gynaecologist, hereafter, together referred to as ‘nongenetic health professionals’ (HPs). To this end, it is essential that they collect enough information on the patient’s family history. Non-genetic HPs recognise family history taking (Christianson et al 2012; Ozanne et al 2012) and communicating risks (Flynn et al 2010) as difficult tasks; they show a lack of knowledge on oncogenetics and express educational needs regarding this item (Klitzman et al 2012; Prochniak et al 2012; Sifri et al 2003). Only a small percentage of patients with CRC meeting the

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