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Daughter Son Parents Gametes At conception X-LINKED INHERITANCE WHERE THE MOTHER IS A CARRIER FatherMother XYXX (Carrier) (Affected) (Carrier) (Unaffected)

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Presentation on theme: "Daughter Son Parents Gametes At conception X-LINKED INHERITANCE WHERE THE MOTHER IS A CARRIER FatherMother XYXX (Carrier) (Affected) (Carrier) (Unaffected)"— Presentation transcript:

1 Daughter Son Parents Gametes At conception X-LINKED INHERITANCE WHERE THE MOTHER IS A CARRIER FatherMother XYXX (Carrier) (Affected) (Carrier) (Unaffected)

2 Fragile X Syndrome Supporting Genetics Education for Health 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.

3 Duchenne Muscular Dystrophy Fig. 1.4 ©Scion Publishing Ltd Histology photos courtesy of Dr Richard Charlton. (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.

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

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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

16 Supporting Genetics Education for Health

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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

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

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

24 Congenital hypothyroidism PKU Newborn Bloodspot Cards Congenital hypothyroidism PKU MCADD Cystic Fibrosis Sickle Cell Disease & Beta thalassaemia major Newborn Screening

25 Down’s Syndrome Screening Combined Test 11 – 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 NormalCarrierTrisomy 14Trisomy 21 Robertsonian Translocation

28 Cardiology People with inherited risk of cardiac problems increasingly identified Screening & treatment Available - saving lives

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 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?


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