Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective

Abstract

Background/aimsThe views of people with inherited retinal disease are important to help develop health policy and plan services. This study aimed to record levels of understanding of and attitudes to genetic testing for inherited retinal disease, and views on the availability of testing.MethodsTelephone questionnaires comprising quantitative and qualitative items were completed with adults with inherited retinal disease. Participants were recruited via postal invitation (response rate 48%), approach at clinic or newsletters of relevant charitable organisations.ResultsQuestionnaires were completed with 200 participants. Responses indicated that participants’ perceived understanding of genetic testing for inherited retinal disease was variable. The majority (90%) considered testing to be good/very good and would be likely to undergo genetic testing (90%) if offered. Most supported the provision of diagnostic (97%) and predictive (92%) testing, but support was less strong for testing as part of reproductive planning. Most (87%) agreed with the statement that testing should be offered only after the individual has received genetic counselling from a professional. Subgroup analyses revealed differences associated with participant age, gender, education level and ethnicity (p<0.02). Participants reported a range of perceived benefits (eg, family planning, access to treatment) and risks (eg, impact upon family relationships, emotional consequences).ConclusionsAdults with inherited retinal disease strongly support the provision of publicly funded genetic testing. Support was stronger for diagnostic and predictive testing than for testing as part of reproductive planning.

Willingness to pay for genetic testing for inherited retinal disease

“…Retinitis pigmentosa was the most common diagnosis in the present sample (42%), matching its position as the most common inherited retinal condition. 20,21 Finally, the sample was a purposive one, drawn from a wider study; 10 this means that although participants were deliberately selected to gather a range of views, further research is necessary to assess whether such views are held more widely; the use of a control group in the study would be useful for this purpose. Our participants may be more invested in obtaining genetic information than the general public, and hence our results are expected to overestimate interest in and willingness to pay for genetic testing in the context of inherited retinal disease.…”

“…The available evidence suggests that patients are generally enthusiastic towards testing and feel that it should be available, even if they may choose not to utilise it themselves. [8][9][10][11] Recently, Eden et al 4 examined the monetary value that individuals with and without prior experience of retinitis pigmentosa placed upon genetic counselling and testing. Responding to a hypothetical scenario, the majority of their sample reported that they would seek genetic counselling and testing.…”

Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease

“…13,14 Telephone questionnaires with the larger group of participants identified that a self-reported understanding was greater in those with higher educational achievement, suggesting that the need for information is greater in those with lower educational achievement or that they are less confident. 7 Access to information may also be more difficult for those with lower educational achievement. The findings suggest that either or both of the initial provision or the recall of information may have been poor.…”

“…Recruitment to the larger, telephone questionnaire has been described elsewhere. 7 Face-to-face interviews were conducted with the 50 participants using a semistructured interview guide. Interviews were recorded, transcribed verbatim, analysed and coded by two researchers using a thematic approach.…”

“…6 Patients with inherited retinal disease have variable self-reported understanding of both genetics and genetic testing. 7 They may also experience more emotional trauma when adjusting to a diagnosis with the likely consequence of progressive visual impairment than to other, more common disorders. 8 The trauma associated with adjustment can, in part, be reinforced by a lack of information about the cause of the visual impairment.…”