Provision of Genetic Counselling for Patients with Retinal Dystrophy Prof. Graeme Black, Ms Georgina...
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Transcript of Provision of Genetic Counselling for Patients with Retinal Dystrophy Prof. Graeme Black, Ms Georgina...
![Page 1: Provision of Genetic Counselling for Patients with Retinal Dystrophy Prof. Graeme Black, Ms Georgina Hall Depts. of Ophthalmology and Clinical Genetics,](https://reader037.fdocuments.us/reader037/viewer/2022103006/56649e695503460f94b65c25/html5/thumbnails/1.jpg)
Provision of Genetic Counselling for Patients with
Retinal Dystrophy Prof. Graeme Black, Ms Georgina Hall
Depts. of Ophthalmology and Clinical Genetics,
Manchester
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Causes of childhood blindness
Africa S America India
Genetic 21% 30% 30%
Intrauterine 7% 2% 10%
Perinatal 2% 2% 20%
Childhood 34% 37% 12%
Unknown 35% 30% 27%
Developed countries30-50% childhood visual handicap is genetic
Developing countries
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In developed countries,
hereditary causes of blindness
are the most important cause of
childhood visual handicap
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Retinitis pigmentosa
Symptoms• night blindness• constriction of peripheral
visual field • later loss of central vision.
Diagnosis • Progressive photoreceptor
dysfunction • undetectable / reduced ERGs……
rod-mediated responses more severely affected than cone-mediated (i.e. rod-cone dystrophy).
Retina • pigment in bone-spicule distribution.
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Retinitis pigmentosa
1 in 2500
Genetic condition
Caused by single fault in one gene
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Deoxyribonucleic acid (DNA) and chromosomes
46 chromosomes Human chromosomes
carry 20,000 to 30,000 genes
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Genes and Inheritance
Chromosomes – 22 identical pairs (“Autosomes”)– 1 pair non- identical (“Sex
Chromosomes”)XX=Female XY=Male
Each chromosome carries 1 copy of gene (ie 2 copies of a gene per pair)
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A genetic disorder is caused by
a single faulty gene
What is a gene?
Gene
Protein
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Classification of RP Genetic
– Autosomal dominant 10-15%– X-linked 5-15%– Autosomal recessive 30-50%– Sporadic 20-50%
Onset– Birth : Leber congenital amaurosis– Childhood : many X-Linked, AR forms– Later onset: some AD forms
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Retinal manifestations
(Symptoms or ERG define)
– Cone-rod dystrophy– Rod-cone dystrophy– Cone dystrophy– Rod dystrophy
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Genes and RP
Confusing
– Faults in a large number of genes can cause RP and retinal degeneration
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Retinal dystrophies Hugely variable
– onset outcome retinal findings– gene defect inheritance pattern
Gene analysis tells us there are a large number of different forms - ?100 -200
Majority unclassifiable clinically
Increasingly the precise genetic defect is known for many retinal degenerations…… or rather could be known
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Genetics and Ophthalmology in Manchester
– 8 clinics per month– Run by clinical genetics alongside
ophthalmology– Coworkers present– Held in clinical genetics unit / eye hopsital– 4-6 pts/clinic
• Time• examine family members
– Letters to patient
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Why have a genetic ophthalmic clinic at all?
Large group of uncommon disorders– Unified approach – Diagnosis– Investigation– Counselling / FH Issues
Pts referred for specialist opinion– ?correct diagnosis– ?geneticists cannot examine
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Clinician’s Objectives
Diagnosis
Risk estimation to family members Screening requirements Information Support
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Patient’s objectives (I think….) Treatment
Prognosis Understanding Risks to family members (Children)
– Prenatal diagnosis Presymptomatic diagnosis
Perhaps our objectives are different….
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Genetic Counsellors
MSc genetic counselling Nurses
– Additional training in genetics and counselling 300 in the UK Professional body (AGNC) Register (GCRB)
– Code of ethics / conduct– Competency assessment
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What is “genetic counselling”
Communication processComprehend medical informationAppreciate the hereditary impactFacilitate decision making (genetic testing, reproduction) in context of beliefs / family / cultural sensitvityMake best possible adjustment to genetic condition in family
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Why do people request genetic counselling?
Diagnosis What is the cause? What will it mean for me? What are the risk to my children (other
family members) What screening / tests / treatments
available
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Nature of genetic information
Patients may need to absorb a lot of new information that is often complex, abstract and difficult to grasp.
Rapid advances in understanding of genetic basis of eye conditions.
Heterogeneity – inheritance not clear cut.
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Counselling issues
Over and above emotional impact of visual impairment (grief, loss)
Burden / guilt Coping with risk / uncertainty Difficult decisions Impact on relationships / family dynamics Family coping styles / beliefs around visual
impairment
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X-linked retinitis pigmentosa
Boys affected late childhood / early teens Progressive No treatment Faulty gene on X chromosome Mothers are “carriers”
– Half daughters will be carriers– Half sons will be affected
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XL Retinitis Pigmentosa
5
3
3
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L dropped out of school, no exams Diagnosed XLRP aged 17 Anger and depression Isolated
M denied diagnosis. “It hasn’t come from me”
?guilt
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XL Retinitis Pigmentosa
5
3
3
Am I a carrier?S
guilt
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Sister S wanted to know if she was a carrier New baby son J How would she feel if she were a carrier? How would she feel about her new baby? Would it affect decisions about further
pregnancies?
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XL Retinitis Pigmentosa
5
3
3
S
J
L
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Testing children?
J has a 50% risk of being affected? Should he be tested? Would it affect parenting / schooling? Benefits to S – relieving uncertainty Benefits to J?
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Meeting other family members
Individual needs / decisions Confidentiality Counselling issues evolve with time
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Norrie’s disease
X-linked Blind at birth Additional risks
– 1/3 boys have learning difficulties– 1/3 boys develop deafness
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Norrie disease
Chromosome 11p11.4NDP gene
Whole deletion inclNeighbouring MAO-A/B
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Family
Tom
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Shock It’s my fault How will I cope / my family
Sister about to start IVF treatment Burden of informing sister
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Sister
50% chance she is carrier Able to offer a blood test Options
– Decide not to have a pregnancy– Continue with IVF (7/8 chance baby would
not have Norrie’s) or test a pregnancy– Have pre-implantation genetic diagnosis
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Outcomes
Sister not a carrier, able to continue with IVF without anxiety
Tom doing extremely well. No learning difficulties or hearing problems. Very dedicated parents.
Future concerns that daughter could be a carrier. Will not offer testing until she can make her own choice.
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Genetic testing for diagnosis:Can it be done?
Genes identified for wide range of retinal dystrophies are known
Genes able to besequenced
http://www.sph.uth.tmc.edu/Retnet/sum-dis.htm#D-graph
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Molecular Genetic Testing
DNA sample (peripheral blood) Affected Individual / Obligate carrier
Identify sequence variant – not present in normal population
(monogenic disease) – In gene known to cause retinal disease
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What is the Position in 2011?
Technological Advances mean tools
more powerful than ever
Many laboratories now offer diagnostic testing to the NHS
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http://www.mangen.co.uk/molecular_eye_and_rare_disease.asp
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Genetic testing for retinaldystrophies is possible and available
However testing is not universal
Where it is clearly required, testing is usually available
adRP
N = 1131
xlRP
n = 840
Why do patients require testing?Is the case for genetic testing persuasive?What is the evidence base?
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Why develop genetic eye services?
Inequity of services Gene discovery Patient demand Treatment trials
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Research to improve services
Regard study Programme Grant
Communication, accessibility Developing services for genetic
counselling and testing
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Improving accessibility Hospital appointments by phone,
email Written information – large print,
email, braille, audio transcription Tactile genetic diagrams CCTV / software enlargement of
diagrams
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Developing counselling services
Mainly anecdotal evidence of counselling needs of families with inherited eye disease
Requires robust research Evidence based MRC Framework for developing a
complex intervention
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MRC framework
Phase 1– Modelling the intervention– Components
Phase 2– Exploratory trial
Randomised control trial
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Aims
Design a patient led care model for counselling and testing
Develop evidence of patient benefit and “value” of improved counselling
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Phase 1
“Modelling” Qualitative interviews with families and
healthcare professionals Snowballing Grounded theory
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PPI Important to involve patients / users in design,
analysis and dissemination of research Regard Patient Advisory Group
– Patients / users / experts
– Leading charities (RNIB, BRPS, Guide Dogs, Macular Disease Society, NCBS, Genetic Alliance)
– Patients– VI researchers and social workers
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PAG
Regular meetings Formal presentations (teaching, training, updates) Small group work
– Design methods Informal discussion Modify / improve design Regular email contact / updates and queries
– E.g. Review of patient information prior to Ethics application
– Publication of outputs included longer, more frequent meetings
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Advantages of patient involvement
Motivation, extending knowledge base Relationships with pt support groups Focus work on improving patient care
– National patient perspective– Timely, fitting with patient needs
Collaboration– Genetic Alliance Route Maps, UK Vision strategy
workshop
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Measuring benefit of genetic counselling
Outcome measuresInformation recall“satisfaction” surveyDepression / anxietyGenetic Empowerment scale
– Feelings around the condition, impact on family, hope for future, empowerment to make decisions
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McAllister M et al, The Genetic Counseling Outcome Scale: a new patient-reported outcome measure for clinical genetics services Clinical Genet. 2011.
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Phase 2
Exploratory trial– Feasibility of intervention– Pilot outcome measures / develop
estimates of effect size Economic “value”
– Willingness to pay– Economic modelling to understand cost
benefits of genetic testing
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Conclusions
Retinal dystrophies important cause of VI in children/ young adults
Emotional need related to– VI– Family / genetic / treatment needs
Services patchily delivered Links to community support need to be
improved Research into delivery and impact required