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Recommendations for designing genetic test reports to be understood by patients and non-specialists.

Published version
Peer-reviewed

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Authors

Chandratillake, Gemma 
Raymond, F Lucy 
Freeman, Alexandra LJ  ORCID logo  https://orcid.org/0000-0002-4115-161X

Abstract

Patients and non-specialist healthcare professionals are increasingly expected to understand and interpret the results of genetic or genomic testing. These results are currently reported using a variety of templates, containing different amounts, levels, and layouts of information. We set out to establish a set of recommendations for communicating genetic test results to non-expert readers. We employed a qualitative-descriptive study design with user-centred design principles, including a mixture of in-person semi-structured interviews and online questionnaires with patients, healthcare professionals and the general public. The resulting recommendations and example template include providing at-a-glance comprehension of what the test results mean for the patient; suggested next steps; and details of further information and support. Separation and inclusion of technical methodological details enhances non-specialists' understanding, while retaining important information for specialists and the patients' records. The recommendations address the high-level needs of patients and their non-specialist clinicians when receiving genetic test results. These recommendations provide a solid foundation for the major content and structure of reports, and we recommend further engagement with patients and clinicians to tailor reports to specific types of test and results.

Description

Funder: David and Claudia Harding Foundation

Keywords

Comprehension, Genetic Counseling, Genetic Testing, Humans, Medical Writing, Patients, Practice Guidelines as Topic, Research Report

Journal Title

Eur J Hum Genet

Conference Name

Journal ISSN

1018-4813
1476-5438

Volume Title

28

Publisher

Springer Science and Business Media LLC
Sponsorship
Wellcome Trust (Wellcome) (105362/Z/14/Z)