1. Figure 1: Driver Diagram for QI project.
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2. Figure 2: Example of PDSA Cycles to improve management
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3. Table 1: Description of care pathway:
1-2 Referral and triage
Babies are referred to MREH from around the North West with congenital cataracts. Referrals are usually received from ophthalmologists or neonatologists when babies are diagnosed within the first few days of life. Other babies and children with less severe cataract may be referred from paediatricians. Children referred to clinical genetics may have multiple congenital anomalies of which cataracts is one feature. Prior to this care pathway, these different groups of patient received different care. One process has refined the approach.
3-6
Babies / children are seen in clinic where cataracts are confirmed. Prior to this care pathway, babies and children were referred for multiple investigations (see Muslah et al 2015). The new care pathway developed the systems for consent, information and blood collection at this first appointment across all clinics in genetics or paediatric ophthalmology. NGS cataract information sheets, consent forms and laboratory request cards are now available in Ophthalmology. Blood testing had not been possible prior to this project. Babies may be bled in clinic or during cataract surgery.
If babies or children have clear extra-ocular manifestations, clinicians will refer on for subspecialty care in parallel to cataract NGS testing. 7
In babies under 6 months, two investigations were identified. While rare, these causes of cataracts are important to diagnose as early as possible and at the present time, the NGS cataract test takes too long to replace these tests. However, babies over 6 months not showing symptoms of these conditions are unlikely to be affected and urinalysis is not necessary. This step is the same as current care but other current care involves multiple other unnecessary tests and these are done across all patients even when not indicated.
8-10
Sequencing and interpretation in the laboratory results in a molecular report. This is the same as current care. 11
Current care has seen results delivered in many different ways, and sometimes not delivered at all. The new care pathway defines an agreed clinic to deliver results where genetic and genetic counselling specialists are available. 12
Following the genetic result, diagnosis may lead to new management. Genetic counselling for other family members may be needed. In cases where the NGS test was negative, other genetic investigation or research such as the 100, 000 genome project may be helpful. Prior to this care model, access to these opportunities was inequitable. A single genetic clinic seeing all cataract result families will improve access to further genetic testing, genetic counselling and follow-up support.
Ongoing ophthalmic care
This care pathway demonstrates the process for diagnosis using NGS genetic testing. This occurs in parallel with existing ophthalmic care (surgery, ophthalmic follow-up).
Table 1: Description of care pathway:
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4. Question (n=8)
Very
Some what
Not at all
Comments
How satisfied are you? 5 2
“I am grateful to the genetic team and the technology that is provided for us”
“no feedback given to the consultant who asked for the tests and no attempts made to communicate with him”
“test results could have arrived faster”
“unhappy, only received information by letter, would like to speak face to face re results”
Is it important to know the diagnosis? 8 3
“wanted to know why”
“it was very important to us…to know why”
“peace of mind”
“future children and our son’s children”
“to know if other family members / grandchildren will have cataracts”
Do you feel it was important to understand as soon as possible? 9 1
“future children”
“to understand why”
“starting school and the future”
“very worrying – prognosis for vision”
What could we do better?
5 replies Nothing
“Tests could arrive faster”
“Results inconclusive, gone for further testing”
“Provide full feedback as soon as possible”
“Taking too long to get the result”
What was particularly helpful?
“useful to talk to genetics”
“future pregnancies”
“explained why we have cataracts”
“ruled out some causes for cataracts”
“nothing was helpful”
“the explanation”
Table 3: Responses to patient’s questionnaire to assess impact of NGS testing in congenital and paediatric cataracts.
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