Presentation on theme: "X-LINKED INHERITANCE WHERE THE MOTHER IS A CARRIER"— Presentation transcript:
1X-LINKED INHERITANCE WHERE THE MOTHER IS A CARRIER ParentsFatherMother(Unaffected)(Carrier)GametesXYXXAt conceptionDaughterDaughterSonSon(Carrier)(Affected)
2Fragile X SyndromeFragile X Syndrome is the most common identifiable cause of inherited intellectualdisability (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 syndromeSupporting Genetics Education for Health
4Ethical Issues 1Mr 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?
5Ethical Issues 2Duchenne 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 treatmentNeonatal screening of all male births should beperformed to identify affected boys so their motherscan be tested to see if they are carriers and so atrisk of having further affected pregnancies
6Making a referral Draw a family pedigree Patient’s date of birth, address, telephone number, GP, NHS NumberAffected / carrier person’s name, Date of Birth, genetic condition, relationship to patientDetails of anyone already known to genetics
7Taking a sampleEnsure 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.
8Sending a blood sample to Genetics 1 Single gene disorder5ml venous blood sample in an EDTA tube Clearly label blood tubes with 3 reference points, name, date of birth and NHS numberOn a form need the same details +details of the test requireddetails of affected/carrier family membersClearly mark as Urgent with weeks gestationTelephone contact of person giving result
9Sending a blood sample to Genetics 2 For Autosomal Recessive conditions such as Cystic Fibrosis, Tay Sachs, send a sample from both partnersSend each partner on a separate form with linking identifiers
10Sending a blood sample to Genetics 3 Chromosome Disorders:5ml venous blood sample in a Lithium Heparin tubeDetails as before
12Follow 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 diseaseIndividualise treatmentPredict the effects of drugsDevelop new treatmentsHelp 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 modulesTo 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
14Lots of new resources available including around genomic healthcare
15Genetics in Primary Care Module GPS_06_001 Why does geneticsmatter in primary care practice?GPS_06_003 Interpreting familyhistories: Autosomal conditionsGPS_06_004 Interpreting Family Histories and Identifying Patients Part 2: Sexlinked Conditions and Conditions with Variable Patterns of InheritanceGPS_06_006 Talking genetics: Communicating genetic informationThe 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.
18Resources Familial Hypercholesterolaemia scenarios Collecting, Recording and Interpreting Family History Information'Taking a Family History' VideosPowerPoint files of clinical photographsPowerPoint files on specific genetic conditionsPowerPoint files explaining core genetic conceptsThe Genomic Basis of Therapeutics seriesDietetics "Genetics and Obesity"
22What Impact is Genetics likely to make on the NHS in the future?
23OncologyEspecially using genetic data to sub-type tumours – informing treatment and managementRED = over-expression of genesALL (acute lymphoblastoidleukemia) and AML (acute myeloid leukemia) cells look alike, but microarraysdistinguish themSupporting Genetics Education for Health23
28Cardiology People with inherited risk of cardiac problems increasingly identifiedScreening & treatmentAvailable - saving livesEg. Long QT and hypertrophic cardiomyopathyAcross UK – Cardiac Liaison nurses and Genetic Arrhythmia Clinics28
29PharmacogenomicsGenetic information can identify the right treatment for a patiente.g. Abacavir (used to treat HIV & AIDS)Gene test now used routinely in UK to identify people who might be hypersensitiveIMPACT – many thousands of adverse drug reactions avoided (5-10% had adverse reaction in the past & response could be fatal)Abacavir
30Institute of Genetic Medicine Central Parkway Newcastle Upon Tyne Please get in touch if you want further information/support:Institute of Genetic MedicineCentral ParkwayNewcastle Upon TyneNE1 3BZNGEDC website: