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

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Chandratillake, Gemma 
Raymond, F Lucy 
Freeman, Alexandra L. J.  ORCID logo


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.


Funder: David and Claudia Harding Foundation


Article, /692/700/1719, /706/689/477/2811, article

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European Journal of Human Genetics

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Springer International Publishing
Wellcome Trust (Wellcome) (105362/Z/14/Z)