Abstract
PurposeGuidelines recommend that genetic reports should be clear to nonspecialists, including patients. We investigated the feasibility of creating reports for cystic fibrosis carrier testing through a rapid user-centered design process that built on a previously developed generic template. We evaluated the new reports’ communication efficacy and effects on comprehension against comparable reports used in current clinical practice. MethodsThirty participants took part in three rounds of interviews. Usability problems were identified and rectified in each round. One hundred ninety-three participants took part in an evaluation of the resulting reports measuring subjective comprehension, risk probability comprehension, perceived communication efficacy, and other factors, as compared with standard reports. ResultsParticipants viewing the user-centered reports rated them as clearer, easier to understand, and more effective at communicating key information than standard reports. Both groups ended up with equivalent knowledge of risk probabilities, although we observed differences in how those probabilities were perceived. ConclusionOur findings demonstrate that by starting with a patient-friendly generic report template and modifying it for specific scenarios with a rapid user-centered design process, reports can be produced that are more effective at communicating key information. The resulting reports are now being implemented into clinical care.
Highlights
Genetic and genomic testing is becoming increasingly widely available due to falling costs of testing, new referral pathways, increased integration of such testing into mainstream clinical practice, and other initiatives such as the National Health Service (NHS) Long Term Plan and the Improving Outcomes through Personalised Medicine effort in the United Kingdom.[1]
Research suggests that even clinicians have difficulties understanding genetic reports,[3,4] and many researchers have recognized the need for clearer reports in light of variability among individuals in numeracy, health literacy, and genetic literacy.[2,5,6]
Genomic reports are especially challenging due to lack of standardization[18,19] and the complexity and uncertainty of the information involved.[20]
Summary
Genetic and genomic testing is becoming increasingly widely available due to falling costs of testing, new referral pathways, increased integration of such testing into mainstream clinical practice, and other initiatives such as the National Health Service (NHS) Long Term Plan and the Improving Outcomes through Personalised Medicine effort in the United Kingdom.[1] As access to such services expands, nonspecialist clinicians are increasingly tasked with explaining the results of these tests to patients. Patients may be faced with the prospect of interpreting reports themselves without guidance. Patients in some countries can obtain copies of their test results directly from testing laboratories.[2]. Research suggests that even clinicians have difficulties understanding genetic reports,[3,4] and many researchers have recognized the need for clearer reports in light of variability among individuals in numeracy, health literacy, and genetic literacy.[2,5,6] Guidelines state that reports should be clear and comprehensible to nonspecialists, and provide some guidance on how to achieve this.[2,7,8,9,10,11,12,13,14] Despite widespread adoption of some guidelines, such as those of the American College of Medical Genetics and Genomics (ACMG),[7] studies investigating patients’ and nonspecialists’ satisfaction and perceptions find that existing reports leave substantial room for improvement.[4,15,16,17] Genomic reports are especially challenging due to lack of standardization[18,19] and the complexity and uncertainty of the information involved.[20]
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