Interventions and Outcomes for Inherited Retinal Dystrophy: A Qualitative Examination
EMPAG June 2012
Dr Ryan Combs
Fight for Sight Grant: Professor G Black and Ms G Hall
BACKGROUND
• Heterogeneous, including:
•Retinitis Pigmentosa (RP), Leber Congenital Amaurosis, Chroideremia
• Incidence 1 in 3,000
• Autosomal dominant, recessive or x-linked inheritance
• Variable age of onset and rate of visual deterioration
• Next generation sequencing means greater gene identification
Inherited Retinal Dystrophy
BACKGROUND
Progressive, severe vision loss
Huge impact on day-to-day life.
Living with risk in the family
Currently no current treatments
Gene therapy and stem cell replacement offer hope
Key issues for patients
BACKGROUND Why is a project on Retinal Dystrophy services important?
• A review of clinical services for inherited eye diseases identified variation in service provision across the UK (Moore and Burton 2008).
VARIATION IN PRACTICE
• Manchester provides national service for genetic testing for inherited retinal dystrophies. Our data show inequality of access.
UNEQUAL ACCESS
AIMS: THE REGARD PROGRAMME
5 year Programme Grant funded by Fight for Sight
Multi-centre: Manchester, Oxford, London
Multidisciplinary approach: Health services researchers economists, clinicians
Follows MRC Framework for Complex Interventions
Phase 1 “Modelling”
Phase 2 “Evaluating”
Regard Care Model
Aim: develop and evaluate an evidence-based patient-led care model for inherited retinal dystrophy
METHODOLOGY
28 in-depth semi-structured telephone interviews Transcribed verbatim Analysed using thematic qualitative analysis Sample: Mutation positive families across three centres Range of genetic patterns and severity Affected / unaffected
Patients, n=20 (9 affected, 11 unaffected)
Professionals, n=8 (4 ophthalmologists, 2 geneticists, 1 genetic counsellor, 1 social worker)
RESULTS
Patient Need
Medical
Support
Practical Support
Psycho-social
Support
Patient Experiences Three categories of need have been identified in the analysis.
RESULTS: MEDICAL NEEDS
• P27: “It is nice to have a label, it really is. I mean, the worst bit of the diagnosis is when you are in limbo and you don’t really know what you’ve got and how it’s going to affect you.”
1. Diagnosis
• P19: “When people find out that they’ve got RP, I think they do need information, proper information about it, and for somebody to be able to answer the questions.”
2. Information about disease/prognosis
• P10: “All my sisters wanted to be tested so obviously for their future families.”
3. Information about inheritance and risks
• P7: “Personally I think if we’re going to give academics, researchers a chance of finding cures, we want to be involved”.
4. Information about research and option to participate
RESULTS: PSYCHOSOCIAL NEEDS
• P17: “The nurse that we saw was very supportive. She explained everything and told us what the test was going to be like. She raised quite a few issues... I think this is why [my niece] decided not to actually have hers done that day.”
1. Information about options and their consequences
• P24: “[The genetic counsellor] got me to talk about it and it was very emotional… I think ultimately it was a good thing and I think it helps you explore your own feelings and it helps you through that process, that grieving process”
2. Adjustment and Coping
• P12: “In a way it would be quite nice to be kept in a loop of it, but then that also means that I need to groom my brother, which I’m a bit loathe to do because it’s obviously a subject that he doesn't feel that he needs to completely discuss with me.”
3. Communication
RESULTS: PRACTICAL NEEDS
• P19: “It was a nightmare trying to get help [...] All we needed was somebody to point us in the direction of where to go for retraining, what entitlement he’d got in benefits.”
1. Information about benefits
• P10: “I struggle to do most basic things” 2. Adaptations
• P13: “I had a [driving] test booked and she just said to me ‘oh you’ll be okay for about another two years and you’ll have to stop.’ And I think it was from then on that things sort of really had a bit of an impact. I gave up driving there and then.”
3. Mobility
RESULTS
The data were then analysed through the theoretical framework of Empowerment to determine whether or not this framework encapsulates the desired outcomes of this group.
Behavioural Control
(BC)
Cognitive Control
(CC)
Decisional Control
(DC)
Emotional Regulation
(ER) Hope (H)
Empowerment (McAllister et al 2011)
RESULTS
Medical Outcome
Diagnosis CC
Information about the disease & prognosis
CC
Information about inheritance pattern and risks to self and family
CC, BC
Information about research developments and the option to participate
CC, BC, H
Psychosocial Outcome
Information about options and their consequences
BC, DC, ER
Adjustment and coping
ER, H
Communication CC, ER
Practical Outcome
Information about benefits
Independence
Adaptations
Independence
Mobility
Independence
Key: Behavioural Control: BC, Cognitive Control: CC, Decisional Control: DC, Emotional Regulation: ER, Hope: H
Additional outcome – Independence “The ability to participate fully in social, family, economic, educational and/or public life.”
INTERIM CONCLUSION
Qualitative analysis of interviews with patients demonstrates three complex domains of perceived need
These map on to empowerment outcome measures
Retinal dystrophy patients also have differentiating needs that we have termed ‘independence’
Results validated with patient advisory group
NEXT STEPS: DESIGN AND EVALUATE CARE MODEL
Facilitating understanding (education/comprehension)
Diagnosis and clinical management
Decision support
Emotional and coping support
Communication support
Facilitating independent living
- Empowerment
- Independence
Interventions
Focus Groups
Outcomes
CONCLUSIONS
Comprehensive patient-led approach for designing service
Applicable to all inherited eye disease
Model may be relevant to multidisciplinary care for genetics patients across any specialty.
CONTRIBUTORS
Dr Ryan Combs (1), Georgina Hall (2), Dr Marion McAllister
(3), Professor Katherine Payne (1), Miss Susan Downes (4), Jo
Lowndes (4), Professor Anthony Moore (5), Sophie Devery (5),
Genevieve Wright (5), Dr Simon Ramsden (2), Professor
Graeme Black (1)
1. University of Manchester, Manchester, UK 2. Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK 3. Institute of Medical Genetics, Cardiff University, UK 4. Oxford Eye Hospital, Oxford, UK 5. Moorfields Eye Hospital, London, UK
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