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Genetics in Primary Care By Chris and Amit Ethical Dilemmas Imagine … You are recently married with no children. Your Dad died 10 years ago from Huntington’s Disease. Your Mum was his main carer but his condition dominated your childhood. During his illness he became profoundly depressed at an early stage. Two unsuccessful suicide attempts and a slow slip into alcoholism came before the dementia characteristic of the disease set in. Your partner has suggested that you get Genetic Testing to see if you have inherited the dominant gene. Your Mum has tried to encourage you not to go ahead. She is afraid of how the answer would affect you. Would you be tested? Spotting a Genetic Condition The condition is known to be genetic Multiple family members affected Early age of onset Recurrent miscarriage A cluster of different disorders An unusual combination of physical features Family Trees Family Trees – Who’s Who? Female male Male Sex Unkown Deceased Male Miscarriage (Male Foetus) female Miscarriage (Female Foetus) p Unborn Female Foetus p Unborn Male Foetus Family Trees – Relationships? Marriage/Partnership Divorce/Separation Consanguineous Children/Siblings Non-identical Twins Identical Twins Family Trees - Example … Drawing a Family Tree – Simple Tips Start with the patient and immediate family and work out Systematically cover each branch fully before moving on Always date and sign a completed family tree It can be scanned into notes or attached to a referral Mind your Language with Genetics Mind your Language Other Partners Do all your children have the same Mum/Dad? Do all your brothers and sisters have the same parents? Consanguinity Is your partner a blood relative? Were you related to your partner before you married? Pregnancy Losses Have you had any other pregnancies? Was there a medical reason to terminate the pregnancy? Mind your Language Negative Neutral Mutation / Mutant Variation / Variant Defective / Damaged Changed / Altered Disease / Problem Condition Sufferer Person with a condition Risk Chance / Likelihood Mind your Language Watch out for … Parental Guilt Cultural and Religious Influences Your own Prejudices as a doctor Your own Assumptions as a doctor Imagine … One of your patients comes to see you He recently married and is thinking of having children His wife’s sister has Cystic Fibrosis He wants to know if his children would be affected and what he can do CSA Roleplay Types of Inheritance Inheritance Single Autosomal Dominant Autosomal Recessive X linked One copy enough Both copies needed Male disease Female carriers Cystic Fibrosis PCKD Sickle Cell disease NF 1 & 2 ß-thalassaemia Huntington’s Haemochromatosis Myotonic Dystrophy CAH Osteogenesis Imperfecta Congenital deafness Tuberous Sclerosis Alpha-1-antitrypsin def Familial Hyperchol Tay-Sachs Disease Familial Breast /Ovarian Ca Gaucher’s Diease Colorectal – HNPCC Wilson’s Disease PKU HHT Hereditary Spherocytosis Von Willebrand’s Red/Green Colourblind Haemophilia Duchenne MD Becker’s MD Chromosomal Down’s - Trisomy 21 Edwards – Trisomy 18 Patau – Trisomy 13 Turners XO Klinefelters XXY Multifactoral Schizophrenia Type 2 DM Let’s see how awake you were!!! Inheritance Single Autosomal Dominant Autosomal Recessive X linked Chromosomal Multifactoral Mode of inheritance Down’s Syndrome – Trisomy 21 Risk increases with maternal age and if previous pregnancies have been affected Age of mother 20 years 30 years 35 years 40 years 45 years and over Risk 1:1500 1:800 1:270 1:100 1:50 and greater Down’s Screening – Initial Screening This info is from CKS and Patient.co.uk and may vary – please check the details First Trimester Combined Test From 11+2 to 14+1 weeks Nuchal Translucency Scan/Crown-Rump Length on USS and Bloods (bHCG + PAPP-A) 90% sensitivity Quadruple Test From 14+2 to 20 weeks Bloods (bHCG, AFP, uE3 + inhibin A) Not as good as First Trimester Combined Test Down’s Screening – Test to Confirm This info is from CKS and Patient.co.uk and may vary – please check the details If Screening Risk > 1/150 then offer further assessment to confirm Pre 13 wks gestation Chorionic Villous Sampling Usually transabdominal needle (sometimes trans-cervical) Local anaesthetic and USS guidance 0.5 – 1% risk miscarriage Post 15 wks gestation Amniocentesis Transabdominal needle, Local Anaethetic and USS Guidance 1 – 2% risk miscarriage Role of Clinical Genetics Department Facilitate Pre-Natal Diagnosis Antenatal Risk Estimation Predictive Testing Facilitate Ongoing Management Patient Information Education of Healthcare Professionals Local genetic services http://www.bshg.org.uk/genetic_centres/uk _genetic_centres.htm http://www.oxfordradcliffe.nhs.uk/forpatient s/departments/genetics/home.aspx Useful Websites www.geneticseducation.nhs.uk www.library.nhs.uk/geneticconditions