Journal article

Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice

Jean Lillian Paul, Rachel Pope-Couston, Samantha Wake, Trent Burgess, Tiong Yang Tan

EUROPEAN JOURNAL OF HUMAN GENETICS | NATURE PUBLISHING GROUP | Published : 2017

Abstract

Letter-writing is an integral practice for genetic health professionals. In Victoria, Australia, patients with a chromosomal variant of uncertain clinical significance (VUS) referred to a clinical geneticist (CG) for evaluation receive consultation summary letters. While communication of uncertainty has been explored in research to some extent, little has focused on how uncertainty is communicated within consultation letters. We aimed to develop a multi-layered understanding of the ways in which CGs communicate diagnostic uncertainty in consultation summary letters. We used theme-oriented discourse analysis of 49 consultation summary letters and thematic analysis of a focus group involving e..

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Grants

Funding Acknowledgements

This study was supported by the Murdoch Childrens Research Institute and the Victorian Government's Operational Infrastructure Support Program. It was completed in partial fulfilment of the requirements for the Master of Genetic Counselling, University of Melbourne, Victoria, Australia. The authors acknowledge the course coordinators Margaret Sahhar and Jan Hodgson for supporting the original development of this research for RPC's minor thesis. We also acknowledge the clinical geneticists who participated in the focus group and allowed us to analyse their letter writing practices.