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

TY - JOUR

T1 - Recommendations for designing genetic test reports to be understood by patients and non-specialists

AU - Farmer, George D.

AU - Gray, Harry

AU - Chandratillake, Gemma

AU - Raymond, F. Lucy

AU - Freeman, Alexandra L. J.

PY - 2020/7/1

Y1 - 2020/7/1

N2 - 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.

AB - 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.

KW - Human behaviour

KW - Patient education

UR - https://www.scopus.com/pages/publications/85079464365

U2 - 10.1038/s41431-020-0579-y

DO - 10.1038/s41431-020-0579-y

M3 - Article

C2 - 32024982

SN - 1018-4813

VL - 28

SP - 885

EP - 895

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 7

ER -