1. X-LINKED INHERITANCE WHERE THE MOTHER IS A CARRIER
Parents
Father
Mother
(Unaffected)
(Carrier)
Gametes X Y X X
At conception
Daughter
Daughter
Son
Son
(Carrier)
(Affected)

2. Fragile X Syndrome
Fragile X Syndrome is the most common identifiable cause of inherited intellectual
disability (mental handicap).
It can cause a wide range of difficulties with learning,
as well as social, language, attentional, emotional and behavioural problems.
Fragile X Syndrome is the most common known cause of inherited learning disabilities. It can cause a wide range of difficulties with learning, as well as social, language, attentional, emotional, and behavioural problems.
The Fragile X chromosome, in the centre of the picture, shows the fragile site at the lower tip in contrast to the other normal chromosomes.
The Fragile X gene has a number of repeats, which when there are greater than 200 repeats in a male will cause Fragile X syndrome
Supporting Genetics Education for Health

3. Duchenne Muscular Dystrophy
(a) Affected boys stand up by bracing their arms against their legs (Gower’s manoeuvre) because their proximal (eg muscles are weak. (b) and (c) Muscle histology (Gomori trichrome stain). Normal muscle (b) shows a regular architecture of cells with dystrophin (brown stain) on all the outer membranes. (c) Shows muscle from a 10-year-old affected boy. Note the disorganisation, invasion by fibrous tissue and complete absence of dystrophin. Histology photos courtesy of Dr Richard Charlton, Newcastle upon Tyne.
Most affected boys develop the first signs of difficulty in walking at the age of 1 to 3 years and are usually unable to run or jump like their peers, they often
struggle to climb stairs and need to use a banister for support. Rising from the floor can also prove difficult.
As the condition progresses boys with DMD are unable to walk as far or as fast as other children and may occasionally fall down.
Some boys also have learning and or behavioural difficulties, which may begin to manifest at this stage.
By about 8 to 11 years (rarely earlier or a little later) boys become unable to walk and by their late teens or twenties the condition is severe enough to shorten life expectancy.
Information from Muscular Dystrophy Campaign website -
Fig. 1.4 ©Scion Publishing Ltd
Histology photos courtesy of Dr Richard Charlton.

4. Ethical Issues 1
Mr P was recently diagnosed with ADPKD. Having realised each of his children has a 50% chance of having inherited the condition from him, Mr P asks the GP to organise a kidney ultrasound for his two children aged 10 and 7, to see if they have inherited the condition. The GP should do so.
Consider the statement above to what extent do you agree or disagree with it?

5. Ethical Issues 2
Duchenne Muscular Dystrophy (DMD) is a progressive neuromuscular disorder affecting
~ 1 in 3000 male births.
Boys with DMD are diagnosed between 4-5 years In about 2/3 cases, the mother is a carrier.
No treatment
Neonatal screening of all male births should be
performed to identify affected boys so their mothers
can be tested to see if they are carriers and so at
risk of having further affected pregnancies

6. Making a referral Draw a family pedigree
Patient’s date of birth, address, telephone number, GP, NHS Number
Affected / carrier person’s name, Date of Birth, genetic condition, relationship to patient
Details of anyone already known to genetics

7. Taking a sample
Ensure the patient is aware of the possible implications of the result for themselves and other family members before the blood sample is taken.
Obtain consent for the procedure, document whether the patient is happy for results to be shared with other relevant health professionals and family members.
Arrange how, when and from whom the patient will receive the results.

8. Sending a blood sample to Genetics 1
Single gene disorder
5ml venous blood sample in an EDTA tube  
Clearly label blood tubes with 3 reference points, name, date of birth and NHS number
On a form need the same details +
details of the test required
details of affected/carrier family members
Clearly mark as Urgent with weeks gestation
Telephone contact of person giving result

9. Sending a blood sample to Genetics 2
For Autosomal Recessive conditions such as Cystic Fibrosis, Tay Sachs, send a sample from both partners
Send each partner on a separate form with linking identifiers

10. Sending a blood sample to Genetics 3
Chromosome Disorders:
5ml venous blood sample in a Lithium Heparin tube
Details as before

11. Our new look home webpage

12. Follow the front page link to the e-learning section BMJ Learning
The Centre has developed a two-module course for BMJ Learning entitled 'Genomics - an introduction for clinicians'. After completing this course, you should understand how genomics can be used to:
Make a more accurate or specific diagnosis of disease
Individualise treatment
Predict the effects of drugs
Develop new treatments
Help in the management of cancer and infectious diseases.
You should also feel more confident about explaining genomic principles to patients and start to consider where you might incorporate genomic tests into everyday clinical management.
How to access the modules
To access the modules you must set up an account at the BMJ Learning website, which is free to do. Completion of the modules will provide you with BMJ Learning certificates which can then be placed in your CPD portfolio. The following links go direct to the individual modules.
- An introduction to genomics
- Genomic medicine in the management of cancer and infectious diseases

13. Advise on the genetic tests available

14. Lots of new resources available including around genomic healthcare

15. Genetics in Primary Care Module
GPS_06_001 Why does genetics
matter in primary care practice?
GPS_06_003 Interpreting family
histories: Autosomal conditions
GPS_06_004 Interpreting Family Histories and Identifying Patients Part 2: Sexlinked Conditions and Conditions with Variable Patterns of Inheritance
GPS_06_006 Talking genetics: Communicating genetic information
The eGP project is a joint project of the RCGP and e-learning for healthcare and is funded by the Department of Health. It aims to produce electronic modules, each containing approximately minute electronic sessions, covering the whole curriculum. These are the modules currently available.
If GP trainees access e-learning, answer the questions and write some thoughts in the reflective practice box the system will automatically update their profile to say they have completed a genetics module.

16. Supporting Genetics Education for Health

18. Resources Familial Hypercholesterolaemia scenarios
Collecting, Recording and Interpreting Family History Information
'Taking a Family History' Videos
PowerPoint files of clinical photographs
PowerPoint files on specific genetic conditions
PowerPoint files explaining core genetic concepts
The Genomic Basis of Therapeutics series
Dietetics "Genetics and Obesity"

19. Supporting Genetics Education for Health

20. Supporting Genetics Education for Health
There is now an icon with an owl which denotes an expert’s comments
Supporting Genetics Education for Health

22. What Impact is Genetics likely to make on the NHS in the future?

23. Oncology
Especially using genetic data to sub-type tumours – informing treatment and management
RED = over-expression of genes
ALL (acute lymphoblastoid
leukemia) and AML (acute myeloid leukemia) cells look alike, but microarrays
distinguish them
Supporting Genetics Education for Health 23

24. Newborn Screening Newborn Bloodspot Cards Congenital hypothyroidism
MCADD - Medium chain Acyl Co-A Dehydrogenase Deficiency
Congenital hypothyroidism
PKU
MCADD
Cystic Fibrosis
Sickle Cell Disease & Beta thalassaemia major
Congenital hypothyroidism
PKU

25. Down’s Syndrome Screening
Combined Test 11 – 14+2 weeks: - Nuchal Translucency - Serum PAPPA and Free βhCG Serum Screening 15 – 20 weeks: - AFP, βhCG, Oestriol, Inhibin A
The future – Free cell fetal DNA

26. Down’s Syndrome
95% Regular Trisomy
4% Translocation
1% Mosaic

27. Robertsonian Translocation
Normal
Carrier
Trisomy 14
Trisomy 21

28. Cardiology People with inherited risk of cardiac problems
increasingly identified
Screening & treatment
Available - saving lives
Eg. Long QT and hypertrophic cardiomyopathy
Across UK – Cardiac Liaison nurses and Genetic Arrhythmia Clinics 28

29. Pharmacogenomics
Genetic information can identify the right treatment for a patient
e.g. Abacavir (used to treat HIV & AIDS)
Gene test now used routinely in UK to identify people who might be hypersensitive
IMPACT – many thousands of adverse drug reactions avoided (5-10% had adverse reaction in the past & response could be fatal)
Abacavir

30. Institute of Genetic Medicine Central Parkway Newcastle Upon Tyne
Please get in touch if you want further information/support:
Institute of Genetic Medicine
Central Parkway
Newcastle Upon Tyne
NE1 3BZ
NGEDC website:

31. Thank you
Any Questions?