The British journal of ophthalmology · 2025
Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI.
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Wong Wendy, Sumodhee Dayyanah, Morris Tiyi, Tailor Bhavna, Hollyhead Catherine, Woof William A, Archer Stephen, Veal Carl, Lobo Loy, Al-Khuzaei Saoud, Daich Varela Malena, C de Guimaraes Thales A, Gomes Manuel, Shah Mital, Moosajee Mariya, Downes Susan M, Madhusudhan Savita, Mahroo Omar A, Webster Andrew R, Michaelides Michel, Pontikos Nikolas
Аннотация
BACKGROUND: Inherited retinal diseases (IRDs) are the leading cause of blindness in young people in the UK. Despite significant improvements in genomics medicine, the diagnosis of these conditions remains challenging, and around 40% do not receive a definite genetic diagnosis after extensive genetic testing. This survey aims to investigate the experience of individuals affected by IRDs, their relatives, friends and caregivers, focusing on their care and diagnostic journey. Additionally, it explores the potential acceptability of artificial intelligence (AI) technologies, such as Eye2Gene, that predict causative genes from retinal images of patients with IRDs.
METHODS: This cross-sectional survey included Likert scale and open-ended questions and was distributed electronically using the Qualtrics platform between April and August 2024. The survey included questions on respondent demographics; their journey to receive specialist care and genetic testing; their information needs and their attitude towards AI-augmented diagnosis. Descriptive statistics and content analysis were used to interpret the survey responses.
RESULTS: The survey had 247 responses, of which 242 were analysed after removing four duplicates and one without consent; 80.2% were patients and the remainder were relatives, friends or caregivers. There was substantial variability in patient diagnostic journeys in terms of waiting times to see a specialist (IQR, 1-4 years), commute required (IQR, 10-74 miles) and number of visits to reach a diagnosis (IQR, 2-4). A substantial proportion of patients (35.8%) had a change in diagnosis. The majority of respondents (>90%) were overwhelmingly in favour of the integration of AI into the IRD pathway to accelerate genetic diagnosis and improve care.
CONCLUSION: This survey identifies several key gaps and disparities in the IRD care pathway which may potentially be bridged with AI. The survey also reveals a favourable attitude towards incorporating AI into diagnostic testing of IRDs.
METHODS: This cross-sectional survey included Likert scale and open-ended questions and was distributed electronically using the Qualtrics platform between April and August 2024. The survey included questions on respondent demographics; their journey to receive specialist care and genetic testing; their information needs and their attitude towards AI-augmented diagnosis. Descriptive statistics and content analysis were used to interpret the survey responses.
RESULTS: The survey had 247 responses, of which 242 were analysed after removing four duplicates and one without consent; 80.2% were patients and the remainder were relatives, friends or caregivers. There was substantial variability in patient diagnostic journeys in terms of waiting times to see a specialist (IQR, 1-4 years), commute required (IQR, 10-74 miles) and number of visits to reach a diagnosis (IQR, 2-4). A substantial proportion of patients (35.8%) had a change in diagnosis. The majority of respondents (>90%) were overwhelmingly in favour of the integration of AI into the IRD pathway to accelerate genetic diagnosis and improve care.
CONCLUSION: This survey identifies several key gaps and disparities in the IRD care pathway which may potentially be bridged with AI. The survey also reveals a favourable attitude towards incorporating AI into diagnostic testing of IRDs.