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Genetics in Primary Care

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.

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Genetics in Primary Care

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  1. Genetics in Primary Care By Chris and Amit

  2. Ethical Dilemmas

  3. 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?

  4. 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

  5. Family Trees

  6. Family Trees – Who’s Who? Miscarriage (Male Foetus) Female male Male Miscarriage (Female Foetus) female Unborn Female Foetus Sex Unkown p Deceased Male p Unborn Male Foetus

  7. Family Trees – Relationships? Marriage/Partnership Divorce/Separation Consanguineous Children/Siblings Non-identical Twins Identical Twins

  8. Family Trees - Example …

  9. 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

  10. Mind your Language with Genetics

  11. 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?

  12. Mind your Language • Negative • Mutation / Mutant • Defective / Damaged • Disease / Problem • Sufferer • Risk • Neutral • Variation / Variant • Changed / Altered • Condition • Person with a condition • Chance / Likelihood

  13. Mind your Language • Watch out for … • Parental Guilt • Cultural and Religious Influences • Your own Prejudices as a doctor • Your own Assumptions as a doctor

  14. 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

  15. CSA Roleplay

  16. Single Autosomal Dominant Autosomal Recessive X linked Chromosomal Multifactoral One copy enough Both copies needed Male disease Female carriers Types of Inheritance Inheritance Schizophrenia Type 2 DM Down’s - Trisomy 21 Edwards – Trisomy 18 Patau – Trisomy 13 Turners XO Klinefelters XXY PCKD NF 1 & 2 Huntington’s Myotonic Dystrophy Osteogenesis Imperfecta Tuberous Sclerosis Familial Hyperchol Familial Breast /Ovarian Ca Colorectal – HNPCC HHT Hereditary Spherocytosis Von Willebrand’s Cystic Fibrosis Sickle Cell disease ß-thalassaemia Haemochromatosis CAH Congenital deafness Alpha-1-antitrypsin def Tay-Sachs Disease Gaucher’s Diease Wilson’s Disease PKU Red/Green Colourblind Haemophilia Duchenne MD Becker’s MD

  17. Single Autosomal Dominant Autosomal Recessive X linked Chromosomal Multifactoral Let’s see how awake you were!!! Inheritance

  18. Mode of inheritance

  19. Down’s Syndrome – Trisomy 21 • Risk increases with maternal age and if previous pregnancies have been affected • Age of mother Risk • 20 years 1:1500 • 30 years 1:800 • 35 years 1:270 • 40 years 1:100 • 45 years and over 1:50 and greater

  20. 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

  21. 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

  22. Role of Clinical Genetics Department • Facilitate Pre-Natal Diagnosis • Antenatal Risk Estimation • Predictive Testing • Facilitate Ongoing Management • Patient Information • Education of Healthcare Professionals

  23. Local genetic services • http://www.bshg.org.uk/genetic_centres/uk_genetic_centres.htm • http://www.oxfordradcliffe.nhs.uk/forpatients/departments/genetics/home.aspx

  24. Useful Websites • www.geneticseducation.nhs.uk • www.library.nhs.uk/geneticconditions

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