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Communicating results from genetic testing

Winton Centre for Risk and Evidence Communication

Project - Communicating results from genetic testing

Detail of genetic report

Patients and non-specialist healthcare professionals are increasingly being expected to understand and interpret the results of genetic or genomic testing. The reporting of these results is currently done using a wide variety of templates containing different amounts, levels and layouts of information. Guidelines recommend that genetic reports should be clear to non-specialists and patients, but there is currently little work showing exactly how that can be achieved.

We have been working with genetic specialists, non-specialist healthcare professionals, patients and members of the public to design a report template that contains the information that each needs when genetic or genomic test results are reported, and then have worked on the specific wording, numbers and graphics that might be used within that template to communicate the results and their implications clearly.

The first piece of work, designing a template format and formulating recommendations for more user-friendly genetic reports, has been published in the European Journal of Human Genetics.

The second piece of work applied a user-centred design process to develop report templates that are specific to a particular test: cystic fibrosis (CF) carrier testing. We tested our CF report form against one currently being used in the UK, asking several hundred members of the public online questions to test how well they understood it, whether they knew what to do as a result of getting it and whether they found it easier to understand and showed that it compared very well - being rated much better on most criteria. This research has been published in Genetics in Medicine, with data and analyses available in an open source repository.

We are currently working in collaboration with the East Midlands and East of England Genomic Laboratory Hub on similar forms for communicating the (more complex) numbers involved in having tests for the BRCA gene variants associated with breast, prostate and ovarian cancers (thanks to a grant from CRUK) , and on report forms for genetic haemochromatosis in collaboration with Haemochromatosis UK.