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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. - PowerPoint PPT Presentation
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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?
p
p
Female
Male
Sex Unkown
Deceased Male
Miscarriage (Male Foetus)male
femaleMiscarriage(Female Foetus)
Unborn FemaleFoetus
Unborn Male Foetus
Family Trees – Relationships?
Marriage/Partnership
Divorce/Separation
Consanguineous
Children/Siblings
Non-identical Twins
Identical Twins
Family Trees - Example …
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
Drawing a Family Tree – Simple Tips
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
Mutation / Mutant
Defective / Damaged
Disease / Problem
Sufferer
Risk
Neutral
Variation / Variant
Changed / Altered
Condition
Person with a condition
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
Single
Chromosomal MultifactoralAutosomalDominant
AutosomalRecessive
X linked
One copy enough Both copies needed Male disease
Female carriers
Inheritance
PCKDNF 1 & 2
Huntington’s Myotonic Dystrophy
Osteogenesis ImperfectaTuberous SclerosisFamilial Hyperchol
Familial Breast /Ovarian CaColorectal – HNPCC
HHTHereditary Spherocytosis
Von Willebrand’s
Cystic Fibrosis Sickle Cell disease
ß-thalassaemia Haemochromatosis
CAHCongenital deafness
Alpha-1-antitrypsin defTay-Sachs DiseaseGaucher’s DieaseWilson’s Disease
PKU
Red/Green ColourblindHaemophiliaDuchenne MDBecker’s MD
SchizophreniaType 2 DM
Down’s - Trisomy 21Edwards – Trisomy 18Patau – Trisomy 13Turners XOKlinefelters XXY
Let’s see how awake you were!!!
Single
Chromosomal MultifactoralAutosomalDominant
AutosomalRecessive
X linked
Inheritance
Mode of inheritance
Down’s Syndrome – Trisomy 21
Risk increases with maternal age and if previous pregnancies have been affected
Age of mother Risk20 years 1:150030 years 1:80035 years 1:27040 years 1:100
45 years and over 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 DiagnosisAntenatal Risk EstimationPredictive TestingFacilitate Ongoing ManagementPatient InformationEducation of Healthcare Professionals
Local genetic services
http://www.bshg.org.uk/genetic_centres/uk_genetic_centres.htm
http://www.oxfordradcliffe.nhs.uk/forpatients/departments/genetics/home.aspx
Useful Websites
www.geneticseducation.nhs.uk www.library.nhs.uk/geneticconditions