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1、Supporting Genetics Education for Health www.geneticseducation.nhs.uk,Practical Genetics for Primary Care,6th February 2013 Marie-Anne OReilly Genetic Counsellor Nottingham Clinical Genetics Service Email: ,Supporting Genetics Education for Health www.geneticseducation.nhs.uk,Overview,Introduction t
2、o genetics for GPs Taking a family history Family cancer genetics Making a referral to the genetic department Sources of further information Ethical dilemmas,Supporting Genetics Education for Health www.geneticseducation.nhs.uk,When might a GP see genetics in practice?,Supporting Genetics Education
3、for Health www.geneticseducation.nhs.uk,Chromosomal disorders Syndromes: Down, Turner, Klinefelter. Chromosomal Translocations Autosomal dominant disorders Adult polycystic kidney disease Neurofibromatosis Huntington Disease Hypercholesterolemia Marfan Syndrome Familial Cancer Bowel/Uterine/Ovarian
4、?Lynch Breast/Ovarian/Prostate ?BRCA1/2,Autosomal recessive disorders Cystic Fibrosis Haemoglobinopathies Haemochromatosis X-Linked disorders Duchenne and Becker Muscular dystrophies Haemophilia A Fragile X Variable inheritance patterns Deafness Muscular dystrophies,Common / important conditions,Sup
5、porting Genetics Education for Health www.geneticseducation.nhs.uk,Other common referral reasons,Developmental delay Autism / Asperger / Autistic spectrum Seizures FH hearing loss / visual problems Recurrent miscarriage Pregnancy issues (e.g. differences noted on scan),Supporting Genetics Education
6、for Health www.geneticseducation.nhs.uk,Questions a patient may ask,Whats wrong? What does the future hold? Is there a cure? Why did it happen? Will it happen again? Will it be as bad or worse? Whose fault is it? Are there any tests? Who else is at risk?,Supporting Genetics Education for Health www.
7、geneticseducation.nhs.uk,Why is the patient asking their question now?,Supporting Genetics Education for Health www.geneticseducation.nhs.uk,Why is the patient asking their question now?,Recent diagnosis? Anniversary of a birth/death of an affected family member? Approaching the age others became af
8、fected? Screening becoming available? Planning marriage/beginning a family/buying a house? Pressure from family/friends? Religious aspects? Media reports about the condition?,Supporting Genetics Education for Health www.geneticseducation.nhs.uk,Genetic family history,1. Why is family history informa
9、tion important to my practice? 2. How do I collect and record family history information? Factsheets, animations, slides and videos Medical Family History Drawing Tool Worksheets for practising drawing pedigrees 3. How do I interpret family history information? Factsheets and slides on Understanding
10、 Modes of Inheritance Factsheets and worksheets on Interpreting a Family History,Supporting Genetics Education for Health www.geneticseducation.nhs.uk,Male,Female,Person whose sex is unknown,Pregnancy,Marriage / Partnership (horizontal line),Parents and Siblings,Offspring (vertical line),Affected Ma
11、le & Female,Carrier Male & Female,Partnership that has ended,Pedigree Symbols,Miscarriage,Supporting Genetics Education for Health www.geneticseducation.nhs.uk,SB,Unaffected person, sex unknown,Twins:,identical;,non-identical,Double line shows consanguineous couple,Stillborn baby, unknown sex,Therap
12、eutic abortion,Affected male,Unaffected female who has died,Affected female,Spontaneous abortion,Supporting Genetics Education for Health www.geneticseducation.nhs.uk,Is my baby at risk of cystic fibrosis?,Supporting Genetics Education for Health www.geneticseducation.nhs.uk,Scenario,Watch a video o
13、f a GP being consulted by Jane Hobson. She is in the early stages of pregnancy and is consulting him about the risks to her baby of having cystic fibrosis. Her nephew, Richard Whitehead, was diagnosed as having cystic fibrosis as a result of the neonatal cystic fibrosis screening programme. The medi
14、cal family tree (pedigree) will be taken from Jane Hobson. Please draw out the pedigree as it is being taken.,Supporting Genetics Education for Health www.geneticseducation.nhs.uk,CF video family history clip,Supporting Genetics Education for Health www.geneticseducation.nhs.uk,George,Died age 65, 2
15、007,Joan,63,John Whitehead,27,Jane,29,Christine,30,Richard,Born 2004,Cystic fibrosis,9 weeks,Christopher Hobson,29,William,60,Joan,63,P,6 weeks,Julie,27,David,10,Supporting Genetics Education for Health www.geneticseducation.nhs.uk,From the family pattern, who must be carriers for cystic fibrosis?,George Whitehead,Died age 65, 2007,Joan,63,John Whitehead,27,Jane,29,Christine,30,Richard,Born 2004,Cystic fibrosis,9 weeks,Christopher Hobson,29,William,60,Joan 63,P,6 weeks,Julie,27,David,10,Supporting Genetics Education for Health www.geneticseducation.nhs.
