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

George D. Farmer (Lead / Corresponding author), Harry Gray, Gemma Chandratillake, F. Lucy Raymond, Alexandra L. J. Freeman

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)
88 Downloads (Pure)


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.

Original languageEnglish
Pages (from-to)885-895
Number of pages11
JournalEuropean Journal of Human Genetics
Issue number7
Early online date5 Feb 2020
Publication statusPublished - 1 Jul 2020


  • Human behaviour
  • Patient education

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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