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Department of Clinical Genetics
Nottingham University Hospitals NHS Trust
Genes and GenomesAll you need to know about genetics.....
Training day for ST trainees 13th June 2017
Why do you need to know about
Genetic Conditions?
• 1 in 17 people have a rare disease
• To be able to spot common genetic
conditions
• To know when to refer to us
• Because you will be doing genetic testing
in the future – mainstreaming is here!
East Midlands Regional Genetics ServiceCovers population of 2.2 million in Nottinghamshire, Derbyshire, Lincolnshire
and North Leicestershire
Three components
1. Clinical Genetics (doctors & genetic counsellors)
• For diagnosis and management of patients
2. Cytogenetics Lab
• For chromosome tests
3. Molecular Genetics Lab (also covers all of
Leicestershire in addition)
• For DNA tests
Clinical Genetics
• 7 Consultants and 2 StRs
• 12 Genetic Counsellors
• Outpatient based service but also– On-call Mon to Fri 9-5 for telephone queries and Ward referrals
– Phone 0115 962 7728
Individuals with
genetic condition
& their family
Counsel
& adviseDiagnose
Investigate
Investigations
/ diagnosisFamily picture
Counsel / advise
• Explaining condition to family
• Cascade genetic screening
• Organising physical screening – e.g. breast
cancer screening, cardiology
• Prenatal options
• Future follow up in the family e.g. teen review
• Predictive testing
Who are our patients?
Pregnant women/couples with
concerns
Children with dysmorphic
features +/- LD
Pts with strong family history of
cancer
Pts with a family history of a genetic
condition
Adults with a suspected genetic
condition
Patients seen in Genetics Clinics
Clinics Specialist or joint
clinics
Community Paediatrics
Adult learning disability
Paediatric Cardiology
Adult Cardiology
Skeletal dysplasia
Lymphoedema
Ophthalmology
Paediatric Nephrology
Paediatric Endocrinology
Disorders of sex
differentiation
Regional and National Regional NF2
National ataxia telangiectasia
General ClinicsNottingham (City and QMC)
8 other Hospitals in East Mids
Urgent Prenatal Clinic 1/wk every Wed in City
What we don’t do
• Haematology
– Thalassaemias, sickle cell anaemia, haemophilias are seen in Haematology service
– Genetic testing carried out by separate QMC lab
• Hypercholesterolemia
– Lipid clinic at City Hospital
Dr Peter Prinsloo, Consultant Chemical Pathologist
• Haemochromatosis
– Specialist Nurse at City Hospital, Ext [email protected]
Money matters
• Commissioned as a specialised service by the NHS
• One of 23 services in UK (17 in England)
• Can refer directly to us
• To facilitate assessment of affected or at-risk relatives
‘To whom it may concern’ letters
