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Genetic conditions
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An example of the chromosome pattern of someone with Down syndrome (Trisomy 21)
Use this worksheet to show the chromosome pattern of someone with an extra chromosme 21 which results in Down syndrome (Trisomy 21).
Tags: Chromosomes Worksheets Chromosomal conditions Down syndrome Trisomies Genetic conditions
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An example of the chromosome pattern of someone with Edwards' syndrome (Trisomy 18)Use this worksheet to show the chromosome pattern of someone with an extra chromosme 18 which results in Edwards' syndrome (Trisomy 18).
Tags: Chromosomes Worksheets Chromosomal conditions Edwards syndrome Trisomies Genetic conditions
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An example of the chromosome pattern of someone with Patau syndrome (Trisomy 13)Use this worksheet to show the chromosome pattern of someone with an extra chromosme 13 which results in Patau syndrome (Trisomy 13).
Tags: Chromosomes Genetic conditions Chromosomal conditions Patau syndrome Trisomies
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Translational medicine: Marfan syndrome (case study)In this case-example we illustrate the rapid pace of progress along the translational path from identifi cation of the genetic contribution to disease and drug therapy, particularly when these relate to drugs with long histories of use in other conditions.
Tags: Autosomal dominant conditions Genetic conditions Marfan syndrome Genomic healthcare Case studies Drug therapy
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Use this factsheet to provide a brief overview of hereditary haemochromatosis.
Tags: Autosomal recessive conditions Factsheets Genetic conditions Hereditary haemochromatosis (HH)
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Predisposition to inherited bowel cancer (factsheet)Use this factsheet to provide a brief overview of inherited bowel cancer.
Tags: Autosomal dominant conditions Factsheets Genetic conditions Bowel / colon cancer
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This e-learning resource, designed for dieticians, explains MCADD, an inherited metabolic condition. Doctors, health visitors and paediatric nurses may also find it useful
Tags: Nursing Genetic conditions General practitioners Health visiting Medium chain acyl CoA dehydrogenase deficiency (MCADD) Midwifery
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My dad has dementia: will I get it? (factsheet)Use this factsheet to provide a brief overview of dementia.
Tags: Factsheets Genetic conditions Dementia Common complex conditions
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United Kingdom Genetic Testing Network (UKGTN)
The UKGTN advises the NHS on genetic testing across the UK.
Tags: Genetic testing Genetic conditions Clinical management Web links
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This UK based charity provides information for health professionals, patients and families.
Tags: Genetic conditions Cancer Clinical management Patient information Patient support Web links
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Sickle cell anaemia (factsheet)Use this factsheet to provide a brief overview of sickle cell anaemia.
Tags: Autosomal recessive conditions Factsheets Genetic conditions Sickle cell disease (SCD)
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Neurofibromatosis type 1 (factsheet)Use this factsheet to provide a brief overview of neurofibromatosis type 1.
Tags: Autosomal dominant conditions Factsheets Genetic conditions Neurofibromatosis type 1 (NF1)
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Myotonic dystrophy (factsheet)Use this factsheet to provide a brief overview of myotonic dystrophy.
Tags: Factsheets Genetic conditions Myotonic dystrophy Autosomal dominant conditions
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Use this factsheet to provide a brief overview of Marfan syndrome.
Tags: Factsheets Genetic conditions Marfan syndrome Autosomal dominant conditions
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Inherited breast cancer (factsheet)Use this factsheet to provide a brief overview of inherited breast cancer.
Tags: Factsheets Genetic conditions Breast cancer Autosomal dominant conditions
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Huntington disease (factsheet)Use this factsheet to provide a brief overview of Huntington disease.
Tags: Factsheets Genetic conditions Huntington disease (HD) Autosomal dominant conditions
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Use this factsheet to provide a brief overview of haemophilia.
Tags: X linked conditions Factsheets Genetic conditions Haemophilia
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Autosomal dominant polycystic kidney disease (factsheet)Use this factsheet to provide a brief overview of autosomal dominant polycystic kidney disease.
Tags: Autosomal dominant conditions Factsheets Genetic conditions Autosomal dominant polycystic kidney disease (ADPKD)
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Fragile X syndrome (factsheet)Use this factsheet to provide a brief overview of fragile X syndrome.
Tags: Factsheets Genetic conditions Fragile X syndrome (FRAX) X linked conditions
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Familial hypercholesterolaemia (factsheet)Use this factsheet to provide a brief overview of familial hypercholesterolaemia.
Tags: Factsheets Familial hypercholesterolaemia (FH) Genetic conditions Autosomal dominant conditions
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Duchenne and Becker muscular dystrophy (factsheet)Use this factsheet to provide a brief overview of Duchenne muscular dystrophy and Becker muscular dystrophy.
Tags: X linked conditions Factsheets Genetic conditions Duchenne muscular dystrophy (DMD) Becker muscular dystrophy
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Use this factsheet to provide a brief overview of cystic fibrosis.
Tags: Factsheets Genetic conditions Cystic fibrosis (CF) Autosomal recessive conditions
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Congenital adrenal hyperplasia (factsheet)Use this factsheet to provide a brief overview of congenital adrenal hyperplasia.
Tags: Factsheets Genetic conditions Congenital adrenal hyperplasia (CAH) Autosomal recessive conditions
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Use this factsheet to provide a brief overview of beta-thalassaemia.
Tags: Factsheets Genetic conditions Beta thalassaemia Autosomal recessive conditions
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Use this factsheet to provide a brief overview of achondroplasia.
Tags: Autosomal dominant conditions Factsheets Genetic conditions Achondroplasia
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Unique: rare chromosome disorder support groupThis UK based charity provides information and support to both families and individuals affected by rare chromosome conditions as well as the health professionals involved in providing ongoing medical management and care. Over 100 condition leaflets are available for downloading.
Tags: Genetic conditions Chromosomal conditions Clinical management Patient information Patient support Web links
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This website, which provides useful information on over 800 genetic conditions and 100 genes, is targeted at patients.
Tags: Chromosomes Genetic conditions Chromosomal conditions Genes Patient information Web links
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This book provides an overview of genetics for the non-specialist. It includes sections on common genetic conditions and common consultations in primary care.
Tags: Genetic conditions Clinical practice General practitioners Medicine Clinical management Core genetic concepts Patient pathways Primary care Web links Books
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Practising drawing a genetic family history: Cystic fibrosis (Question sheets 1 & 2)Use these question sheets in conjunction with the cystic fibrosis worksheet. Also available as separate question sheets.
Tags: Autosomal recessive conditions Family history Genetic conditions Cystic fibrosis (CF) Drawing a pedigree
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Practising drawing a genetic family history: Cystic fibrosis (Question sheet 2 answers)Answers to the cystic fibrosis discussion questions 2.
Tags: Autosomal recessive conditions Quizzes Family history Genetic conditions Worksheets Cystic fibrosis (CF) Drawing a pedigree
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Discussion points for cystic fibrosis question sheet 1 plus answers to the cystic fibrosis question sheet 2.
Tags: Autosomal recessive conditions Quizzes Family history Genetic conditions Worksheets Cystic fibrosis (CF) Drawing a pedigree
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Practising drawing a genetic family history: Cystic fibrosis (Question sheet 1 - discussion points)Use these discussion point in conjunction with the cystic fibrosis question sheet 1.
Tags: Autosomal recessive conditions Quizzes Family history Genetic conditions Worksheets Cystic fibrosis (CF) Drawing a pedigree
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Practising drawing a genetic family history: Cystic fibrosis (Solution sheet)A solution sheet for for cystic fibrosis worksheet.
Tags: Autosomal recessive conditions Family history Genetic conditions Worksheets Cystic fibrosis (CF) Medicine Drawing a pedigree Midwifery
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Practising drawing a genetic family history: Cystic fibrosis (Question sheet 2)Use this question sheet in conjunction with the cystic fibrosis worksheet.
Tags: Autosomal recessive conditions Quizzes Family history Genetic conditions Worksheets Cystic fibrosis (CF) Drawing a pedigree
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Practising drawing a genetic family history: Cystic fibrosis (Question sheet 2)Use this question sheet in conjunction with the cystic fibrosis worksheet
Tags: Autosomal recessive conditions Family history Genetic conditions Worksheets Cystic fibrosis (CF) Drawing a pedigree
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Observing the taking and drawing of a pedigree for a family with a history of sickle cell disease (Observing video 14)
Watch this video to see how a healthcare professional gathers family history information from a patient, which is then used to create a pedigree. Length: 5 minutes 52 seconds
Tags: Videos Autosomal recessive conditions Family history Genetic conditions Sickle cell disease (SCD) Medicine Drawing a pedigree Midwifery
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Observing the taking and drawing of a pedigree for a family with a Down syndrome (Observing video 13)
Watch this video to see how a healthcare professional gathers family history information from a patient, which is then used to create a pedigree. Length: 7 minutes 13 seconds
Tags: Videos Nursing Family history Genetic conditions Dietetics Medicine Chromosomal conditions Down syndrome Drawing a pedigree Health visiting Midwifery Pharmacy Trisomies
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Observing the taking and drawing of a pedigree for a family with a history of breast and ovarian cancer (Observing video 11)
Watch this video to see how a healthcare professional gathers family history information from a patient, which is then used to create a pedigree. Length: 10 minutes 28 seconds
Tags: Videos Autosomal dominant conditions Nursing Family history Genetic conditions Medicine Breast cancer Drawing a pedigree Oncology Ovarian cancer Penetrance Variation in expression
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Observing the taking and drawing of a pedigree for a family with a history of sudden adult death (Observing video 9)
Watch this video to see how a healthcare professional gathers family history information from a patient, which is then used to create a pedigree. Length: 7 minutes 25 seconds
Tags: Autosomal dominant conditions Family history Genetic conditions General practitioners Worksheets Drawing a pedigree Long QT syndrome Penetrance Primary care Sudden death Variation in expression
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Observing the taking and drawing of a pedigree for a family with a child showing symptoms of developmental delay Observing video 6)
Watch this video to see how a healthcare professional gathers family history information from a patient, which is then used to create a pedigree. Length: 10 minutes 1 second
Tags: Videos Family history Genetic conditions Medicine Chromosomal conditions Developmental delay Drawing a pedigree Paediatrics
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Observing the taking and drawing of a pedigree for a family with muscular dystrophy (Observing video 5)
Watch this video to see how a healthcare professional gathers family history information from a patient, which is then used to create a pedigree. Length: 7 minutes 26 seconds.
Tags: Videos X linked conditions Family history Genetic conditions Medicine Drawing a pedigree Duchenne muscular dystrophy (DMD) Paediatrics Primary care
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Observing the creation of a pedigree for a family with a history of a renal condition (Observing video 4)
Watch this video to see how a healthcare professional gathers family history information from a patient, which is then used to create a pedigree. Length: 10 minutes 22 seconds
Tags: Videos Autosomal dominant conditions Nursing Family history Genetic conditions Dietetics Medicine Drawing a pedigree Health visiting Midwifery Pharmacy Renal medicine Autosomal dominant polycystic kidney disease (ADPKD)
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Observing the taking and drawing of a pedigree for a family with a history of profound deafness (Observing video 3)
Watch this video to see how a healthcare professional gathers family history information from a patient, which is then used to create a pedigree. Length: 6 minutes 24 seconds
Tags: Videos Autosomal recessive conditions Nursing Family history Genetic conditions Dietetics Medicine Deafness Drawing a pedigree Health visiting Midwifery Pharmacy
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Observing the taking and drawing of a pedigree for a family with a history of muscle weakness (Observing video 2)
Watch this video to see how a healthcare professional gathers family history information from a patient, which is then used to create a pedigree. Length: 7 minutes 17 seconds.
Tags: Videos Autosomal dominant conditions Nursing Family history Genetic conditions Dietetics Medicine Anticipation Drawing a pedigree Health visiting Midwifery Myotonic dystrophy Pharmacy
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Observing the taking and drawing of a pedigree for a family with a history of haemophilia (Observing video 1)
Watch this video to see how a healthcare professional gathers family history information from a patient, which is then used to create a pedigree. Length: 9 minutes 31 seconds.
Tags: Videos X linked conditions Family history Genetic conditions General practitioners Medicine Drawing a pedigree Haemophilia Midwifery Obstetrics and gynaecology Prenatal diagnosis Primary care
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Practising drawing a genetic family history: Coeliac disease (Worksheet 16)
Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided.
Tags: Family history Genetic conditions Worksheets Dietetics Drawing a pedigree Coeliac disease
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Practising drawing a genetic family history: Down syndrome (nephew) (Worksheet 15)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided. See also Worksheet 13 for another Down syndrome scenario.
Tags: Nursing Family history Genetic conditions Worksheets Medicine Chromosomal conditions Down syndrome Drawing a pedigree Trisomies
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Practising drawing a genetic family history: Sickle cell disease (Worksheet 14)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided.
Tags: Autosomal recessive conditions Family history Genetic conditions Worksheets Sickle cell disease (SCD) Drawing a pedigree
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This e-learning resource, designed for dieticians, explains MCADD, an inherited metabolic condition
Tags: Autosomal recessive conditions Genetic conditions Dietetics Medium chain acyl CoA dehydrogenase deficiency (MCADD)
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Contact a family is a UK wide charity providing advice, information and support to the parents of all disabled children.
Tags: Genetic conditions Patient information Patient support Web links
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Genetic Alliance UK is a national charity of patient organisations supporting all those affected by genetic disorders.
Tags: Genetic conditions Patient information Patient support Web links
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Practicing drawing a family tree using information collected from a consultation. The family has a history of Down syndrome (Practising video 13)
This video enables you to draw out the family tree whilst you listen to the information being gathered. Length: 7 minutes 2 seconds
A blank worksheet is available.
Tags: Videos Nursing Family history Genetic conditions Dietetics Medicine Chromosomal conditions Down syndrome Drawing a pedigree Health visiting Midwifery Pharmacy Trisomies
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Practising drawing a family tree using information collected from a consultation. This family has a history of breast and ovarian cancer (Practising video 11)
This video enables you to draw out the family tree whilst you listen to the information being gathered. Length: 10 minutes 24 seconds.
A blank worksheet is available.
Tags: Autosomal dominant conditions Nursing Family history Genetic conditions Worksheets Medicine Breast cancer Drawing a pedigree Oncology Ovarian cancer Penetrance Variation in expression
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Practising drawing a family tree using information collected from a consultation. This family has a history of sudden adult death (Practising video 9)
This video enables you to draw out the family tree whilst you listen to the information being gathered. Length: 7 minutes 27 seconds.
A blank worksheet is available.
Tags: Videos Autosomal dominant conditions Family history Genetic conditions General practitioners Drawing a pedigree Long QT syndrome Penetrance Primary care Sudden death Variation in expression
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Practising drawing a family tree using information collected from a consultation. This family has a history of developmental delay (Practising video 6)
This video enables you to draw out the family tree whilst you listen to the information being gathered. Length: 10 minutes 20 seconds.
A blank worksheet is available.
Tags: Videos Family history Genetic conditions Medicine Chromosomal conditions Developmental delay Drawing a pedigree Paediatrics
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Practising drawing a family tree using information collected from a consultation. The family has a history of muscular dystrophy (Practising video 5)
This video enables you to draw out the family tree whilst you listen to the information being gathered. Length: 7 minutes 40 seconds.
A blank worksheet is available.
Tags: Videos X linked conditions Family history Genetic conditions Medicine Drawing a pedigree Duchenne muscular dystrophy (DMD) Paediatrics Primary care
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Practising drawing a family tree using information collected from a consultation. This family has a history of a renal condition (Practising video 4)
This video enables you to draw out the family tree whilst you listen to the information being gathered. Length: 10 minutes 10 seconds.
A blank worksheet is available.
Tags: Videos Autosomal dominant conditions Nursing Family history Genetic conditions Dietetics Medicine Drawing a pedigree Health visiting Midwifery Pharmacy Renal medicine Autosomal dominant polycystic kidney disease (ADPKD)
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Practising drawing a family tree using information collected from a consultation. This family has a history of profound deafness (Practising video 3)
This video enables you to draw out the family tree whilst you listen to the information being gathered. Length: 6 minutes 30 seconds.
A blank worksheet is available.
Tags: Videos Autosomal recessive conditions Nursing Family history Genetic conditions Dietetics Medicine Deafness Drawing a pedigree Health visiting Midwifery Pharmacy
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Practising drawing a family tree using information collected from a consultation. This family has a history of muscle weakness (Practising video 2)
This video enables you to draw out the family tree whilst you listen to the information being gathered. Length: 7 minutes 9 secoonds.
A blank worksheet is available.
Tags: Videos Autosomal dominant conditions Nursing Family history Genetic conditions Dietetics Medicine Anticipation Drawing a pedigree Health visiting Midwifery Myotonic dystrophy Pharmacy
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Practising drawing a family tree using information collected from a consultation. The family has a history of a haemophilia. (Practising video 1)
This video enables you to draw out the family tree whilst you listen to the information being gathered. Length: 9 minutes 18 seconds.
A blank worksheet is available.
Tags: Videos X linked conditions Family history Genetic conditions General practitioners Medicine Drawing a pedigree Haemophilia Midwifery Obstetrics and gynaecology Prenatal diagnosis Primary care
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Practising drawing a genetic family history: Down syndrome (family) (Worksheet 13)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided. See also Worksheet 15 for another Down syndrome scenario.
Tags: Nursing Family history Genetic conditions Worksheets Dietetics Medicine Chromosomal conditions Down syndrome Drawing a pedigree Health visiting Midwifery Pharmacy Trisomies
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Practising drawing a genetic family history: Blood disorder (Worksheet 12)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided.
Tags: Autosomal recessive conditions Family history Genetic conditions Worksheets Medicine Beta thalassaemia Consanguinity Midwifery
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Practising drawing a genetic family history: Breast and ovarian cancer (Worksheet 11)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided.
Tags: Autosomal dominant conditions Nursing Family history Genetic conditions Worksheets Medicine Breast cancer Drawing a pedigree Oncology Ovarian cancer Penetrance Variation in expression
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Practising drawing a genetic family history: Bowel cancer (Worksheet 10)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided.
Tags: Autosomal dominant conditions Nursing Family history Genetic conditions Worksheets Drawing a pedigree Penetrance Primary care Variation in expression
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Practising drawing a genetic family history: Sudden deaths in adulthood (worksheet 9)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided.
Tags: Autosomal dominant conditions Family history Genetic conditions General practitioners Worksheets Drawing a pedigree Long QT syndrome Penetrance Primary care Sudden death Variation in expression
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Practising drawing a genetic family history: Von Willebrand disease (Worksheet 8)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided.
Tags: Autosomal dominant conditions Family history Genetic conditions Worksheets Medicine Drawing a pedigree Midwifery Obstetrics and gynaecology Primary care Von Willebrand disease
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Practising drawing a genetic family history: Heart attacks (Worksheet 7)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided.
Tags: Family history Genetic conditions Cardiology Worksheets Medicine Drawing a pedigree
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Practising drawing a genetic family history: Developmental delay (Worksheet 6)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided.
Tags: Family history Genetic conditions Worksheets Medicine Chromosomal conditions Developmental delay Drawing a pedigree Paediatrics
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Practising drawing a genetic family history: Muscular dystrophy (Worksheet 5)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided.
Tags: X linked conditions Family history Genetic conditions Worksheets Medicine Drawing a pedigree Duchenne muscular dystrophy (DMD) Paediatrics Primary care
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Practising drawing a genetic family history: Renal condition (Worksheet 4)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided.
Tags: Autosomal dominant conditions Nursing Family history Genetic conditions Worksheets Dietetics Medicine Drawing a pedigree Health visiting Midwifery Pharmacy Renal medicine Autosomal dominant polycystic kidney disease (ADPKD)
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Practising drawing a genetic family history: Profound deafness (Worksheet 3)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided.
Tags: Autosomal recessive conditions Nursing Family history Genetic conditions Worksheets Dietetics Medicine Deafness Drawing a pedigree Health visiting Midwifery Pharmacy
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Practising drawing a genetic family history: Muscle weakness (Worksheet 2)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided.
Tags: Autosomal dominant conditions Nursing Family history Genetic conditions Worksheets Dietetics Medicine Anticipation Drawing a pedigree Health visiting Midwifery Myotonic dystrophy Pharmacy
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Practising drawing a genetic family history: haemophilia (Worksheet 1)Use this worksheet which contains family history information to draw a pedigree. A solution sheet is also provided.
Tags: X linked conditions Family history Genetic conditions General practitioners Worksheets Medicine Drawing a pedigree Haemophilia Midwifery Obstetrics and gynaecology Prenatal diagnosis Primary care
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Genetics and common forms of diabetes: bibliographyUse this bibliography to find articles and websites relevant to genetics and common forms of diabetes
Tags: Bibliographies Diabetes Genetic conditions Multifactorial conditions Dietetics
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Demystifying genetics in clinical practice: Haemochromatosis presentationA presentation about developing a service for families at risk of Haemochromatosis in Nottinghamshire; presented at the British Society for Human Genetics 2006 conference
Tags: Autosomal recessive conditions Genetic conditions Clinical practice Presentations Service development Hereditary haemochromatosis (HH)
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Familial cancer and primary care: an assessment of practice nurses' confidence and knowledge posterA poster about practice nurses' confidence and knowledge in familial cancer and primary care; presented at the British Society for Human Genetics 2006 conference.
Tags: Autosomal dominant conditions Nursing Genetic conditions Clinical practice Breast cancer Posters Service development
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Transmission of an X-linked recessive condition
Use this set of presentation slides to demonstrate the inheritance of the X chromosomes through a family with an X-linked recessive condition.
Tags: Teaching X linked conditions Genetic conditions Duchenne muscular dystrophy (DMD) Presentation slides
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X-linked pedigrees for teachingUse this set of presentation slides to present case studies showing X-linked inheritance.
Tags: Teaching Inheritance X linked conditions Genetic conditions Duchenne muscular dystrophy (DMD) Presentation slides
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Use this set of presentation slides to explain X inactivation and its clinical consequences.
Tags: Teaching X linked conditions Genetic conditions Photographs Presentation slides
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Karyotypes - chromosomal conditions (miscellaneous)Use this set of presentation to illustrate a range of karyotypes for different chromosomal conditions.
Tags: Teaching Genetic conditions Karyotypes Photographs Chromosomal conditions Down syndrome Chromosome translocation Edwards syndrome Patau syndrome Turner syndrome Presentation slides Trisomies
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X-linked recessive inheritance (explanation slides)Use this set of presentation slides to explain X-linked recessive inheritance.
Tags: Teaching Inheritance X linked conditions Genetic conditions Presentation slides Core genetic concepts
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Segregation of alleles in X-linked inheritance(explanation slides)Use this set of presentation slides to explain X-linked inheritance.
Tags: Teaching Inheritance X linked conditions Genetic conditions Duchenne muscular dystrophy (DMD) Severe combined immunodeficiencies (SCID) Presentation slides Core genetic concepts
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Segregation of alleles in autosomal dominant inheritance (explanation slides)Use this set of presentation slides to explain the inheritance of autosomal dominant conditions.
Tags: Teaching Inheritance Autosomal dominant conditions Genetic conditions Presentation slides Core genetic concepts
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Multifactorial conditions (explanation slides)Use this set of presentation slides to explain the basis of common complex conditions.
Tags: Teaching Genetic conditions Photographs Multifactorial conditions Presentation slides Core genetic concepts
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Knudson's 2 hit hypothesis (explanation slides)Use this set of presentation slides to explain Knudson's two-hit hypothesis in relation to inherited predisposition of cancer.
Tags: Teaching Cancer Core genetic concepts Somatic cells Knudson's two hit hypothesis Presentation slides Genetic conditions
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Turner syndrome (explanation slides)Use this set of presentation slides to explain the genetics of Turner syndrome (45,X).
Tags: Teaching Genetic conditions Karyotypes Photographs Chromosomal conditions Turner syndrome Presentation slides
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Klinefelter syndrome (explanation slides)Use this set of presentation slides to explain the genetics of Klinefelter syndrome (47,XXY).
Tags: Teaching Genetic conditions Karyotypes Chromosomal conditions Klinefelter syndrome Presentation slides
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Huntington disease (explanation slides)Use this set of presentation slides to explain the genetics of Huntington disease.
Tags: Teaching Autosomal dominant conditions Genetic conditions Photographs Genetic risk Huntington disease (HD) Predictive testing Presentation slides
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Haemoglobinopathies (explanation slides)Use this set of presentation slides to explain the genetics of the haemoglobinopathies e.g. sickle cell disease and thalassaemia.
Tags: Teaching Autosomal recessive conditions Genetic conditions Photographs Sickle cell disease (SCD) Beta thalassaemia Presentation slides
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Fragile X syndrome (explanation slides)Use this set of presentation slides to explain the genetics of fragile X syndrome.
Tags: Teaching X linked conditions Genetic conditions Karyotypes Fragile X syndrome (FRAX) Presentation slides
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Duchenne muscular dystrophy (explanation slides)Use this set of presentation slides to explain the genetics of Duchenne muscular dystrophy.
Tags: Teaching X linked conditions Genetic conditions Photographs Duchenne muscular dystrophy (DMD) Presentation slides
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Down syndrome (explanation slides)Use this set of presentation slides to explain the genetics of Down syndrome.
Tags: Teaching Genetic conditions Karyotypes Photographs Chromosomal conditions Down syndrome Mosaicism Presentation slides Trisomies
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Cystic fibrosis (explanation slides)Use this set of presentation slides to explain the genetics of cystic fibrosis.
Tags: Teaching Autosomal recessive conditions Genetic conditions Photographs Cystic fibrosis (CF) Presentation slides
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Chromosome structure abnormality (explanation slides)Use this set of presentation slides to explain structural chromosomal anomalies eg DIGeorge syndrome.
Tags: Teaching Genetic conditions Karyotypes Photographs Chromosomal conditions Chromosome structure abnormalities Chromosome translocation DiGeorge syndrome (del(22q11)) Presentation slides
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Chromosome number anomalies (explanation slides)Use this set of presentation slides to explain numerical chromosomal anomalies.
Tags: Genetic conditions Photographs Chromosomal conditions Down syndrome Klinefelter syndrome Edwards syndrome Patau syndrome Turner syndrome Presentation slides Trisomies
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Cancer - familial bowel and FAP (explanation slides)Use this set of presentation slides to explain the genetics of bowel cancer.
Tags: Teaching Autosomal dominant conditions Genetic conditions Photographs Cancer Bowel / colon cancer Familial adenomatous polyposis (FAP) Somatic cells Knudson's two hit hypothesis Presentation slides
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Cancer - breast and ovarian (explanation slides)Use this set of presentation slides to explain the genetics of breast and ovarian cancer.
Tags: Teaching Autosomal dominant conditions Genetic conditions Cancer BRCA1 Breast cancer Ovarian cancer Knudson's two hit hypothesis Presentation slides
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Autosomal dominant conditions (clinical photographs)Use this set of clinical photographs to illustrate features of autosomal dominant conditions.
Tags: Teaching Autosomal dominant conditions Familial hypercholesterolaemia (FH) Genetic conditions Photographs Huntington disease (HD) Long QT syndrome Myotonic dystrophy Neurofibromatosis type 1 (NF1) Marfan syndrome Stickler syndrome Presentation slides
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X-linked conditions (clinical photographs)Use this set of clinical photographs to illustrate features of X-linked inherited conditions.
Tags: Teaching X linked conditions Genetic conditions Photographs Haemophilia Duchenne muscular dystrophy (DMD) Rett syndrome Presentation slides X linked alpha thalassaemia mental retardation syndrome
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Genetic conditions - miscellaneous (clinical photographs)Use this set of clinical photographs to illustrate features of a number of genetic conditions.
Tags: Teaching Genetic conditions Photographs Presentation slides Rubinstein Taybi syndrome Angelman syndrome Prader–Willi syndrome (PWS)
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Mitochondrial conditions (clinical photographs)Use this set of clinical photographs to illustrate feature of mitochondrial conditions.
Tags: Teaching Inheritance Genetic conditions Photographs Mitochondrial inheritance Leber hereditary optic neuropathy Presentation slides
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Haemophilia (clinical photographs)Use this set of clinical photographs to illustrate features of haemophilia.
Tags: Teaching X linked conditions Genetic conditions Photographs Haemophilia Presentation slides
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Chromosome structure abnormalities (clinical photographs)Use this set of clinical photographs to illustrate the features of structural chromosomal anomalies.
Tags: Teaching Genetic conditions Photographs Chromosomal conditions Chromosome structure abnormalities DiGeorge syndrome (del(22q11)) Williams Beuren syndrome Presentation slides
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Chromosome number anomalies (clinical photographs)Use this set of clinical photographs to illustrate features of numerical chromosomal anomalies.
Tags: Teaching Genetic conditions Photographs Chromosomal conditions Down syndrome Turner syndrome Presentation slides
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Autosomal recessive conditions (clinical photographsUse this set of clinical photographs to illustrate features of autosomal recessive conditions.
Tags: Teaching Autosomal recessive conditions Genetic conditions Photographs Cystic fibrosis (CF) Sickle cell disease (SCD) Beta thalassaemia Deafness Congenital adrenal hyperplasia (CAH) Tay Sachs disease Phenylketonuria (PKU) Presentation slides
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A report of a survey of educators' perceptions of the Telling Stories website following its launch in June 2007.
Tags: Genetic conditions Clinical practice Patient experiences
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Linking genetic family history with NICE Guidelines (familial hypercholesterolaemia: Scenario 2)Use this scenario to understand how a high cholesterol concentration in a patient might be suggestive of FH.
Tags: Autosomal dominant conditions Familial hypercholesterolaemia (FH) NICE guidelines Family history Scenarios Genetic conditions Clinical practice Primary care
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Linking genetic family history with NICE Guidelines (familial hypercholesterolaemia: Scenario 1)Use this scenario to understand how the family history of a patient presenting with high blood pressure might be suggestive of FH.
Tags: Autosomal dominant conditions Familial hypercholesterolaemia (FH) NICE guidelines Family history Scenarios Genetic conditions Clinical practice Primary care
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Cancer scenarios (Taking and Drawing a Family History Series)Use these scenarios to understand the role of family history in cancer risk assessment.
Tags: Nursing Family history Scenarios Genetic conditions Cancer Bowel / colon cancer Breast cancer Oncology Ovarian cancer Primary care
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Use this factsheet to provide a brief overview of the genetics of obesity.
Tags: Factsheets Obesity Genetic conditions Multifactorial conditions Dietetics
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Genetics and common forms of diabetesUse this factsheet to provide a brief overview of the genetic factors contributing to Type 1 and Type 2 diabetes.
Tags: Factsheets Diabetes Genetic conditions Multifactorial conditions Dietetics
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Genetics and rare forms of diabetesUse this factsheet to provide a brief overview of rare forms of diabetes.
Tags: Inheritance Factsheets Diabetes Genetic conditions Dietetics Genetic heterogeneity Mitochondrial inheritance Single gene
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Genomic healthcare
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What are nutrigenetics and nutrigenomics?Use this factsheet to understand the difference between nutrigenetics and nutrigenomics
Tags: Dietetics Nutrigenomics Genomics Genomic healthcare
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Validating a gene signature (case study)In this case-example we investigated the extent to which a published gene signature was useful for identifying those at high risk of prostate cancer.
Tags: Gene expression signature Genomic healthcare Case studies Prostate cancer
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Translational medicine: Marfan syndrome (case study)In this case-example we illustrate the rapid pace of progress along the translational path from identifi cation of the genetic contribution to disease and drug therapy, particularly when these relate to drugs with long histories of use in other conditions.
Tags: Autosomal dominant conditions Genetic conditions Marfan syndrome Genomic healthcare Case studies Drug therapy
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Our micobiome and personal genomics (case study)In this case-example we comment on the potential impact of our microbiome on the adverse eff ects of drug therapy.
Tags: Personalised medicine Genomic healthcare Case studies Drug therapy Microbiome
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Integrating pharmacogenetics and therapeutic drug monitoring (case study)In this case-example we highlight the clinical use of imatinib: (i) Pharmacogenetics – the selection of patients on the basis of the underlying molecular abnormality (the oncoprotein BCR-ABL associated with an abnormal chromosome called the Philadelphia chromosome) and, (ii) therapeutic drug monitoring - the measurement of the blood concentration of the drug to ensure that it is above the minimum eff ective concentration (MEC).
Tags: Pharmacogenetics Genomic healthcare Case studies Drug therapy Imatinib Chronic myelogenous leukaemia (CML)
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Genetic targeting of therapy: rescue of a side-lined drug (case study)In this case-example we describe the development of gefitinib, a drug used for the management of non-small-cell lung cancer (NSCLC).
Tags: Genomic healthcare Case studies Drug therapy Gefitinib
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Evaluating the clinical signifcance of a new variant allele (case study)In this case-example we illustrate the assessment of the functional consequences of a new variant allele using CYP2C19*17.
Tags: CYP2C19 enzyme Genomic healthcare Case studies Genetic variation
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Inhaled corticosteroids are among the most widely used anti-asthma treatment agents. However, there is considerable variability in the effects these inhalers have and one in three patients may not respond to them..
Tags: Factsheets Therapeutics Pharmacogenetics Pharmacogenomics Genomic healthcare
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Gene therapy and therapeutic gene editing: What are the predictors of success?
Professor Bobby Gaspar
Professor of Padeiatrics and Immunology, UCL Institute of Child Health
Length: 36 minutes 6 seconds
Tags: Videos Genomic healthcare Translational genomics
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HTA of companion diagnostics: Informing the NHS
Dr Elisabeth George
Associate Director - Appraisals, National Institute for Health and Clinical excellence
Length: 26 minutes 40 seconds
Tags: Videos Genomic healthcare Translational genomics
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Implications for pharmacy education
Professor Rex Tyrell
Head, School of Pharmacy, University of Bath
Length: 3 minutes 17 seconds
Tags: Videos Genomic healthcare Translational genomics
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Impact on medical students
Professor Patrick Maxwell
Dean, Cambridge University Medical School
Length: 7 minutes
Tags: Videos Genomic healthcare Translational genomics
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Impact on the genetics laboratory
Professor Mike Griffiths
Director, West Midlands Regional Genetics Laboratory
Length: 5 minutes 11 seconds
Tags: Videos Genomic healthcare Translational genomics
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Impact on the Department of Health
Dr Mark Bale
Department of Health
Length: 7 minutes 19 seconds
Tags: Videos Genomic healthcare Translational genomics
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Impact on industry
Dr Mike Hardman
AstraZeneca
Length: 3 minutes 14 seconds
Tags: Videos Genomic healthcare Translational genomics
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Impact on genomic medicines
Professor Adrian Towse
Director, Office of Health Economics
Length: 5 minutes 10 seconds
Tags: Videos Genomic healthcare Translational genomics
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Impact on healthcare products regulation
Dr June Raine
Medicines and Healthcare Products Regulatory Agency
Length: 6 minutes 34 seconds
Tags: Videos Genomic healthcare Translational genomics
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Impact on patients
Dr Vanessa Potter
Consultant Oncologist, Nottingham University Hospitals
Length: 5 minutes 14 seconds
Tags: Videos Genomic healthcare Translational genomics
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Impact on patients
Alastair Kent
Director, Genetic Alliance UK
Length: 10 minutes 7 seconds
Tags: Videos Genomic healthcare Translational genomics
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Stratified Medicine at Cancer Research UK
Professor Peter Johnson
Chief Clinician, Cancer Research UK
Length: 25 minutes 18 seconds
Tags: Videos Genomic healthcare Translational genomics
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Clinical Pharmacogenomics: Implications of new developments for the NHS
Professor Munir Pirmohamed
Professor of Clinical Pharmacology, NHS Chair of Pharmacogenetics
Length: 33 minutes 7 seconds
Tags: Videos Genomic healthcare Translational genomics
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click icon to enlarge video
Introduction
Sir Richard Thompson
President, Royal College Of Physicians
Length: 1 minute 48 seconds
Tags: Videos Genomic healthcare Translational genomics
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Genomics in Medicine - Delivering genomics through clinical practiceReport of the Joint Committee on Medical Genetics
Tags: Clinical practice Genomic healthcare
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What is genomics?
Professor Alain Li Wan Po, Director of the Centre for Evidence-Based Pharmacotherapy, Nottingham
In this video Professor Alain Li Wan Po introduces the concept of genomics. Length 46 seconds.
Tags: Videos Genomic healthcare Genomics
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Understanding key terms used in genomic medicineThis factsheet introduces key terms which should be useful for interpreting genomic medicine reports. The terms are presented in pairs to draw out the major differences and nuances which are often attributed to their meanings.
Tags: Pharmacogenetics Personalised medicine Pharmacogenomics Genomic healthcare Genomics Epigenetics Epigenomics Germline mutation Somatic mutation Stratified medicine Factsheets
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Building on our inheritance: genomic technology in healthcareThis report, published by the Human Genomics Strategy Group in January 2012, sets out a strategic vision for how the healthcare system in the UK – and particularly in the NHS – can benefit from the mainstream adoption of genomic technology. It also provides specific recommendations on the steps that need to be taken to realise this vision.
Tags: Genomic healthcare Web links
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Pharmacogenetics: an introductionA list of targeted drugs approved by the US Food and Drug Administration in 2011
Tags: Genomic healthcare Drug therapy Factsheets
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Understanding the role of genetics and genomics in health. Part 2: implications for practiceThis second article in a two part series on genetics and genomics in healthcare focuses on the implications for nursing practice. Part 2 outlines the nurse’s role in supporting the patient pathway, and some of the ethical issues and challenges facing nurses as they integrate genomic healthcare into practice.
Tags: Nursing Clinical practice Midwifery Genomic healthcare
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Understanding the role of genetics and genomics in health. Part 1: backgroundInternational research efforts are resulting in a knowledge revolution which is constantly improving our understanding of the role of genetics and genomics in health and ill health. This first article in a two part series outlines the progress of this research and discusses its implications for healthcare.
Tags: Nursing Clinical practice Midwifery Genomic healthcare
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Use this factsheet to understand the key factors involved in assessing pharmacogenetic studies.
Tags: Factsheets Therapeutics Pharmacogenetics Pharmacogenomics Genomic healthcare
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Calculating screening test-performance metrics (The genomic basis of therapeutics. Part 10)Use this factsheet to understand the definitions of sensitivity, specificity, positive predictive value and negative predictive value when evaluating screening tests.
Tags: Factsheets Therapeutics Pharmacogenetics Test metrics Pharmacogenomics Genomic healthcare
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Use this factsheet to understand how the functional and clinical significance of a gene variant within a metabolic pathway is reported.
Tags: Factsheets Therapeutics Pharmacogenetics Pharmacogenomics Genomic healthcare
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Pharmacogenetics: an introductionUse this article from 'The Pharmacist' to provide an introduction to the science of pharmacogenetics and its implications for pharmacy practice.
Tags: Factsheets NICE guidelines Clinical practice Therapeutics Pharmacogenetics Cancer Articles Pharmacy Single nucleotide polymorphisms (SNPs) Genomic healthcare
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The Genomic Basis of TherapeuticsA series of 12 factsheets illustrating basic concepts and clinical applications of pharmacogenetics and genomic science. Includes information on drug dosage; gene therapy, gene expression signatures and pharmacogenetic testing.
Tags: Factsheets Gene therapy Clinical practice Therapeutics Drug dosage Pharmacogenetics Cancer Cystic fibrosis (CF) Stem cells Adverse drug reactions Disease stratification Melanoma Microbiology Oncology Pharmacogenetic testing Pharmacogenomics Virology Genomic healthcare
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Testing for diabetes
Professor Sian Ellard, Peninsula Clinical Genetics Service
In this video Professor Sian Ellard talks about diabetes and how genomic information can identify people who have a particular type which responds well to tablets rather than insulin injections. Length: 1 minute 19 seconds.
"For about 25% of patients [with suspected monogenic diabetes] we make a genetic diagnosis; which can change their treatment - this can have really dramatic impact upon their lives"
Tags: Videos Diabetes Genetic testing Genomic healthcare Genomics
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One adverse outcome of our increasing love affair with recreational sun-exposure is an increasing incidence of a particular type of skin cancer (melanoma), particularly among fair-skinned populations and sun-bed users. Unfortunately, when the melanoma spreads this leads to a poor prognosis. The response rate with current licensed therapies is poor, with no more than one in five patients responding and little impact on overall survival.
Tags: Factsheets Therapeutics Pharmacogenetics Cancer Melanoma Oncology Pharmacogenomics Genomic healthcare
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Gene expression signatures (The genomic basis of therapeutics. Part 8)New genetic technologies can assist diagnosis, for example by identifying the subtype of a cancer; and prognosis, for example in monitoring the progression of Alzheimer’s disease. This factsheet introduces the technology and application of gene signatures to guide practice.
Tags: Factsheets Clinical practice Therapeutics Pharmacogenetics Adverse drug reactions Pharmacogenetic testing Pharmacogenomics Genomic healthcare
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Genomics, stem cells and regenerative medicine (The genomic basis of therapeutics. Part 7)Stem cells and genomic information hold much promise for regenerating lost or destroyed cells or tissues, such as in neurological disease or heart disease. This factsheet introduces approaches used to induce pluripotent stem cells from somatic cells.
Tags: Factsheets Clinical practice Therapeutics Pharmacogenetics Disease stratification Pharmacogenomics Genomic healthcare
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Pharmacogenetic testing (The genomic basis of therapeutics. Part 6)Pharmacogenetic testing can be used to guide decision-making about drug therapy. In many clinical situations, “traditional” testing, such as monitoring of blood levels, may be more appropriate. Like any test, it is important to demonstrate evidence of the utility and cost-effectiveness of a pharmacogenetic test before. This factsheet illustrates some of the issues involved in assessing clinical utility.
Tags: Factsheets Therapeutics Pharmacogenetics Stem cells Pharmacogenomics Genomic healthcare
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Genotyping the invader and developing new vaccines (The genomic basis of therapeutics. Part 5)Genomic science is helping to improve prevention and treatment of infectious diseases. This factsheet describes developments which may contribute to rapid identification of microbial resistance and formulation of effective vaccines.
Tags: Factsheets Gene therapy Therapeutics Pharmacogenetics Cystic fibrosis (CF) Pharmacogenomics Genomic healthcare
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Gene therapy: repairing or replacing defective genes (The genomic basis of therapeutics. Part 4)This factsheet describes the principles, progress, and challenges of gene therapy.
Tags: Factsheets Clinical practice Therapeutics Pharmacogenetics Microbiology Pharmacogenomics Virology Genomic healthcare
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This factsheet describes how genomic insights have lead to improved treatments for many types of cancer.
Tags: Factsheets Clinical practice Therapeutics Pharmacogenetics Cancer Oncology Pharmacogenomics Genomic healthcare
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Our bodies produce metabolic enzymes that detoxify and process most drugs. These enzymes may be impaired by genetic mutations or interactions with other drugs or foods, and lead to serious clinical effects.
Tags: Factsheets Therapeutics Drug dosage Pharmacogenetics Adverse drug reactions Pharmacogenomics Genomic healthcare
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For most drugs there is a clear dose-effect relationship and dosing involves a trade-off between beneficial and adverse effects.
Tags: Factsheets Therapeutics Drug dosage Pharmacogenetics Genomic healthcare
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How will pharmacogenetics impact on pharmacy practice? Pharmacists views and educational prioritiesUse this report to understand the role that pharmacists feel they could play in offering a pharmacogenetics service to the public and to highlight the educational needs of pharmacists of this topic.
Tags: Pharmacogenetics Reports Educational needs assessment Patient pathways Pharmacy Genomic healthcare NGEDC publications
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Supporting education in genetics and genomics for health - NGEDC reportsUse this bibliography to identify reports and publications produced by the NHS National Genetics Education and Development Centre.
Tags: Bibliographies Publicity Genomic healthcare NGEDC publications
- Download the session PowerPoint
- Download the video transcriptPage 1 of 6
Core genetic concepts
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An example of the chromosome pattern of a male(46, XY karyotype)Use this worksheet to show what normal chromosomes for a male look like down a microscope, and how the laboratory arranges them in pairs for easier detection of any variation.
Tags: Inheritance Chromosomes Worksheets Core genetic concepts
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An example of the chromosome pattern of a female (46, XX karyotype)Use this worksheet to show what normal chromosomes for a female look like down a microscope, and how the laboratory arranges them in pairs for easier detection of any variation.
Tags: Inheritance Chromosomes Core genetic concepts Worksheets
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Autosomal Dominant InheritanceIn this video Professor Peter Farndon explains autosomal dominant inheritance. Length 4 minutes 27 seconds.
Tags: Videos Inheritance Core genetic concepts Autosomal dominant
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Lesson plan 2: Refresher from Lesson 1Use this refresher at the start of Lesson 2 to ensure there are no misconceptions from Lesson 1: DNA, genes and chromosomes.
Tags: Teaching Core genetic concepts Lesson plans
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Mitosis - step by step (e-resource)
This e-resource explains, step by step, the stages involved in mitosis.
Tags: Mitosis Animations Core genetic concepts
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Lesson plan 1: crossword puzzle on genetic and genomic terms (answers)Answers to the crossword puzzle for Lesson 1: DNA, genes and chromosomes.
Tags: Teaching Quizzes Core genetic concepts Lesson plans
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Lesson plan 1: crossword puzzle on genetic and genomic termsThis crossword style puzzle can be used as part of Lesson plan 1: DNA, genes and chromosomes to reinforce learning with students who are fairly new to the subject of genetics. A solution sheet is available.
Tags: Teaching Quizzes Core genetic concepts Lesson plans
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Lesson plan 2: Modes of inheritanceA lesson plan for a 60 minute session which builds on Session 1, exploring patterns of inheritance and how individuals and families perceive chance and risk.
Tags: Inheritance Core genetic concepts Lesson plans
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Lesson plan 1: DNA, genes and chromosomesA lesson plan for a 60 minute session covering basic genetic concepts and the links to health. Designed for individuals who have had minimal experience of genetics.
Tags: Core genetic concepts Lesson plans
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Lesson plan 2: Presentation on modes of inheritanceUse this presentation as part of Lesson plan 2: Modes of inheritance to explain the patterns of inheritance. Length: 28 slides.
Tags: Teaching Inheritance Core genetic concepts Lesson plans
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This book provides an overview of genetics for the non-specialist. It includes sections on common genetic conditions and common consultations in primary care.
Tags: Genetic conditions Clinical practice General practitioners Medicine Clinical management Core genetic concepts Patient pathways Primary care Web links Books
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Lesson plan 1: Presentation on core genetic conceptsUse this presentation as part of Lesson plan 1: DNA, genes and chromosomes. Length: 17 slides.
Tags: Teaching Chromosomes DNA Karyotypes Chromosomal conditions Core genetic concepts Genes Presentations Presentation slides Lesson plans
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A template to help explain X-linked inheritanceUse this worksheet to explain X-linked inheritance.
Tags: Inheritance Worksheets Core genetic concepts
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A template to help explain autosomal inheritanceUse this worksheet to explain autosomal inheritance.
Tags: Inheritance Worksheets Core genetic concepts
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InnovAiT is the journal for the Associates in Training (AiTs) of the Royal College of General Practitioners. Articles covering aspects of 'Genetics and Primary Care' were published in the August 2008 issue.
Tags: Family history General practitioners Communication Core genetic concepts Primary care Web links
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e-GP: e-learning for general practicee-GP provides a programme of interactive e-learning modules structured around the RCGP curriculum for general practice. The ‘Genetics in Primary Care’ module is based on the 2007 RCGP curriculum statement 6 ‘Genetics in Primary Care’.
Tags: Family history General practitioners Communication Core genetic concepts Primary care Web links
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Grandparents to grandchildren – how genetic information is passed on through a familyThis e-resource explains how blocks of genes are inherited down a family from parent to child.
Tags: Inheritance Chromosomes DNA Animations Core genetic concepts
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Understanding inheritance. X-linked recessive inheritance - mother
In this video Professor Peter Farndon explains autosomal recessive inheritance where the mother is a carrier. Length 4 minutes 41 seconds.
Tags: Videos Inheritance Core genetic concepts
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Understanding inheritance. X-linked recessive inheritance - father
In this video Professor Peter Farndon explains X-linked recessive inheritance where the father is a carrier. Length 4 minutes 12 seconds.
Tags: Videos Inheritance Core genetic concepts
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Understanding inheritance. Autosomal recessive inheritance
In this video Professor Peter Farndon explains autosomal recessive inheritance. Length 4 minutes 2 seconds.
Tags: Videos Inheritance Core genetic concepts Autosomal recessive
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X-linked recessive inheritance (explanation slides)Use this set of presentation slides to explain X-linked recessive inheritance.
Tags: Teaching Inheritance X linked conditions Genetic conditions Presentation slides Core genetic concepts
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Taking a family history (explanation slides)Use this set of presentation slides to explain how to take a family history and draw a pedigree.
Tags: Teaching Family history Clinical practice Drawing a pedigree Presentation slides Core genetic concepts
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Somatic mutations in cancer (explanation slides)Use this set of presentation slides to explain the genetic basis of cancer.
Tags: Teaching Cancer Core genetic concepts Somatic cells Knudson's two hit hypothesis Retinoblastoma (RB) Gametes Mosaicism Presentation slides
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Segregation of alleles in X-linked inheritance(explanation slides)Use this set of presentation slides to explain X-linked inheritance.
Tags: Teaching Inheritance X linked conditions Genetic conditions Duchenne muscular dystrophy (DMD) Severe combined immunodeficiencies (SCID) Presentation slides Core genetic concepts
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Segregation of alleles in autosomal dominant inheritance (explanation slides)Use this set of presentation slides to explain the inheritance of autosomal dominant conditions.
Tags: Teaching Inheritance Autosomal dominant conditions Genetic conditions Presentation slides Core genetic concepts
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Multifactorial conditions (explanation slides)Use this set of presentation slides to explain the basis of common complex conditions.
Tags: Teaching Genetic conditions Photographs Multifactorial conditions Presentation slides Core genetic concepts
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Mitosis and meiosis (explanation slides)Use this set of presentation slides to explain the basis of cell division (mitosis and meiosis)
Tags: Teaching Mitosis Meiosis Cell cycle Core genetic concepts Presentation slides
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Knudson's 2 hit hypothesis (explanation slides)Use this set of presentation slides to explain Knudson's two-hit hypothesis in relation to inherited predisposition of cancer.
Tags: Teaching Cancer Core genetic concepts Somatic cells Knudson's two hit hypothesis Presentation slides Genetic conditions
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Chromosomes (explanation slides)Use this set of presentation slides to explain the genetic concept of chromosomes.
Tags: Teaching Chromosomes Karyotypes Photographs Core genetic concepts Presentation slides
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Cell division and the cell cycleUse this factsheet to provide an introduction to cell division.
Tags: Factsheets Cells Mitosis Meiosis Cell cycle Core genetic concepts
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Variations in DNA and their effectsUse this factsheet to provide an overview of DNA variations and their effects on the individual.
Tags: Factsheets DNA Core genetic concepts
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Use this factsheet to provide an introduction to the properties of deoxyribonucleic acid (DNA).
Tags: Factsheets DNA Core genetic concepts
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Use this factsheet to provide an introduction to the function of cells.
Tags: Factsheets Cells Core genetic concepts
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Use this factsheet to provide an introduction to the structure of cells.
Tags: Factsheets Cells Lysosomes Mitochondria Core genetic concepts
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Use this factsheet to provide an introduction to cells and their function.
Tags: Factsheets Cells Core genetic concepts
Page 1 of 5
Clinical practice
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Genetic information: consent and confidentiality issuesEthical issues relating to the acquisition and use of genetic information have been addressed by The Joint Committee on Medical Genetics (comprising The British Society for Human Genetics, The Royal College of Physicians and The Royal College of Pathologists).
Tags: Clinical practice Communication Confidentiality Ethics
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Genomics in Medicine - Delivering genomics through clinical practiceReport of the Joint Committee on Medical Genetics
Tags: Clinical practice Genomic healthcare
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Talking to patients about genetics - what words should I use?This table provides some suggestions as to terms used when discussing genetic conditions with patients, and some alternatives which patients say they prefer.
Tags: Teaching Clinical practice Communication
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This book provides an overview of genetics for the non-specialist. It includes sections on common genetic conditions and common consultations in primary care.
Tags: Genetic conditions Clinical practice General practitioners Medicine Clinical management Core genetic concepts Patient pathways Primary care Web links Books
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Confidentiality guidance: Genetic and other shared informationSections 67-68 of the General Medical Council Guidance on good practice.
Tags: Clinical practice Consanguinity Consent Web links
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A report of the Joint Committee on Medical Genetics published in September 2011. The second edition of a report first published in 2006.
Tags: Genetic testing Clinical practice Confidentiality Consent Web links
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Genetics in family medicine: genetics in practiceThis document, a section from the Australian handbook for general practitioners, provides useful tips on language considerations when talking about genetics and strategies for communicating genetics issues.
Tags: Clinical practice General practitioners Medicine Communication Primary care Web links
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BSGM - The British Society for Genetic MedicineBSGM is an independent body representing UK human genetics professionals. Formerly known as BSHG, The British Society for Human Genetics.
Tags: Clinical practice Web links
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NICE guidance sets the standards for high quality healthcare and encourages healthy living
Tags: NICE guidelines Clinical practice Web links
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Understanding the role of genetics and genomics in health. Part 2: implications for practiceThis second article in a two part series on genetics and genomics in healthcare focuses on the implications for nursing practice. Part 2 outlines the nurse’s role in supporting the patient pathway, and some of the ethical issues and challenges facing nurses as they integrate genomic healthcare into practice.
Tags: Nursing Clinical practice Midwifery Genomic healthcare
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Understanding the role of genetics and genomics in health. Part 1: backgroundInternational research efforts are resulting in a knowledge revolution which is constantly improving our understanding of the role of genetics and genomics in health and ill health. This first article in a two part series outlines the progress of this research and discusses its implications for healthcare.
Tags: Nursing Clinical practice Midwifery Genomic healthcare
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How to record a family history - branch by branchThis e-resource shows, step by step, the order in which to ask questions about relatives when drawing a genetic family history.
Tags: Family history Clinical practice Drawing a pedigree
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Tips and tools for communicating genetic informationUse this information sheet to understand how to talk to patients about genetics.
Tags: Inheritance Factsheets Nursing Clinical practice Dietetics Medicine Communication Genetic risk Health visiting Midwifery Pharmacy
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Huntington disease - Primary care reference guideUse this reference guide for information about Huntington disease including clinical features, the genetic basis and testing and clinical management in primary care
Tags: Autosomal dominant conditions Factsheets Clinical practice General practitioners Clinical management Huntington disease (HD) Primary care Single gene
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Use this document as a reference of the framework of competences in genetics for nurses.
Tags: Competencies Nursing Clinical practice Learning outcomes Midwifery
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Human leukocyte antigen (HLA) test for Carbamazepine
Tags: Videos Clinical practice Therapeutics Pharmacogenetics Adverse drug reactions Personalised medicine Pharmacogenetic testing Pharmacogenomics Pharmacy Population ancestry Prescribing
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Human leukocyte antigen (HLA) test for Abacovir
Tags: Videos Clinical practice Therapeutics Pharmacogenetics Adverse drug reactions Personalised medicine Pharmacogenetic testing Pharmacogenomics Pharmacy Prescribing
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Thiopurine s-methyltransferase (TPMT) test for azathiaprine
Tags: Videos Clinical practice Therapeutics Pharmacogenetics Adverse drug reactions Personalised medicine Pharmacogenetic testing Pharmacogenomics Pharmacy Prescribing
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Sharing rare condition information
Alastair Kent, Genetic Alliance UK
In this video Alastair Kent explains why it is so important that doctors looking after people with rare conditions share information. Length: 1 minute 50 seconds.
Tags: Videos Clinical practice Clinical management Communication Patient experiences Patient pathways Patient support
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The ante-natal & newborn screening e-learning resource
Jill Walker, Regional Antenatal & Child Health Screening Manager, NHS Yorkshire & The Humber
In this video Jill Walker discusses the ante-natal & newborn screening e-learning resource. Length: 1 minute 29 seconds.
Tags: Videos Teaching Clinical practice Antenatal screening Midwifery Newborn screening
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A Competence Framework for General Practitioners with a Special Interest in GeneticsUse this report to understand the competences appropriate for GPs with a Special Interest in Genetics.
Tags: Competencies Clinical practice General practitioners Reports Medicine
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Demystifying genetics in clinical practice: Haemochromatosis presentationA presentation about developing a service for families at risk of Haemochromatosis in Nottinghamshire; presented at the British Society for Human Genetics 2006 conference
Tags: Autosomal recessive conditions Genetic conditions Clinical practice Presentations Service development Hereditary haemochromatosis (HH)
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Familial cancer and primary care: an assessment of practice nurses' confidence and knowledge posterA poster about practice nurses' confidence and knowledge in familial cancer and primary care; presented at the British Society for Human Genetics 2006 conference.
Tags: Autosomal dominant conditions Nursing Genetic conditions Clinical practice Breast cancer Posters Service development
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Taking and Drawing a Family History (Complete series)Use this series of eight factsheets, two cancer scenarios and a crossword puzzle to learn how to systematically collect and record multi-generational family history information.
Tags: Factsheets Nursing Family history Scenarios Clinical practice Puzzles Worksheets Dietetics Cancer Medicine Drawing a pedigree Health visiting Midwifery Pharmacy
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Pharmacogenetics: an introductionUse this article from 'The Pharmacist' to provide an introduction to the science of pharmacogenetics and its implications for pharmacy practice.
Tags: Factsheets NICE guidelines Clinical practice Therapeutics Pharmacogenetics Cancer Articles Pharmacy Single nucleotide polymorphisms (SNPs) Genomic healthcare
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The Genomic Basis of TherapeuticsA series of 12 factsheets illustrating basic concepts and clinical applications of pharmacogenetics and genomic science. Includes information on drug dosage; gene therapy, gene expression signatures and pharmacogenetic testing.
Tags: Factsheets Gene therapy Clinical practice Therapeutics Drug dosage Pharmacogenetics Cancer Cystic fibrosis (CF) Stem cells Adverse drug reactions Disease stratification Melanoma Microbiology Oncology Pharmacogenetic testing Pharmacogenomics Virology Genomic healthcare
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Drawing a family history (animation)Use this animation of a family history being drawn branch by branch to support the 'Taking and Drawing a Family History Series' factsheets. It can be easily incorporated into teaching and learning packages. Length: 1 slide (animated).
Tags: Family history Clinical practice Drawing a pedigree
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Why genetics is imprtant for all healthcare professionals
Professor Helen Langton, Pro Vice-Chancellor and Executive Dean of the Faculty of Health and Life Sciences at the University of the West of England
In this video Professor Helen Langton explains why a knowledge of genetics is important for all health professionals. Length: 32 seconds.
Tags: Videos Nursing Clinical practice Allied health professionals Health visiting Midwifery
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Taking a family history (explanation slides)Use this set of presentation slides to explain how to take a family history and draw a pedigree.
Tags: Teaching Family history Clinical practice Drawing a pedigree Presentation slides Core genetic concepts
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A report of a survey of educators' perceptions of the Telling Stories website following its launch in June 2007.
Tags: Genetic conditions Clinical practice Patient experiences
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Use this factsheet to learn how to safeguard personal and genetic family history information.
Tags: Factsheets Nursing Family history Clinical practice Dietetics Medicine Health visiting Midwifery Pharmacy
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Pedigree drawing exercises (Taking and Drawing a Family History Series. Part 7)Use the information provided in this factsheet to practice drawing a pedigree.
Tags: Nursing Family history Clinical practice Worksheets Dietetics Medicine Drawing a pedigree Health visiting Midwifery Pharmacy
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Use this factsheet to learn how to systematically collect family history information.
Tags: Factsheets Nursing Family history Clinical practice Dietetics Medicine Drawing a pedigree Health visiting Midwifery Pharmacy
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Use this factsheet to learn the key information that should be recorded in a pedigree.
Tags: Factsheets Nursing Family history Clinical practice Dietetics Medicine Health visiting Midwifery Pharmacy Drawing a pedigree
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Use this factsheet as a reminder of the pedigree symbols used most widely when recording family history information.
Tags: Factsheets Nursing Family history Clinical practice Dietetics Medicine Health visiting Midwifery Pharmacy Drawing a pedigree
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Use this factsheet to help identify the clinical benefits of collecting and recording family history information.
Tags: Factsheets Nursing Family history Clinical practice Dietetics Medicine Health visiting Midwifery Pharmacy Drawing a pedigree
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What is a genetic family history? (Taking and Drawing a Family History Series. Part 2)Use this factsheet as an introductory guide to genetic family history.
Tags: Factsheets Nursing Family history Clinical practice Dietetics Medicine Drawing a pedigree Health visiting Midwifery Pharmacy
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Use this factsheet as a summary guide to taking and drawing a family history.
Tags: Factsheets Nursing Family history Clinical practice Dietetics Medicine Drawing a pedigree Health visiting Midwifery Pharmacy
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Gene expression signatures (The genomic basis of therapeutics. Part 8)New genetic technologies can assist diagnosis, for example by identifying the subtype of a cancer; and prognosis, for example in monitoring the progression of Alzheimer’s disease. This factsheet introduces the technology and application of gene signatures to guide practice.
Tags: Factsheets Clinical practice Therapeutics Pharmacogenetics Adverse drug reactions Pharmacogenetic testing Pharmacogenomics Genomic healthcare
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Genomics, stem cells and regenerative medicine (The genomic basis of therapeutics. Part 7)Stem cells and genomic information hold much promise for regenerating lost or destroyed cells or tissues, such as in neurological disease or heart disease. This factsheet introduces approaches used to induce pluripotent stem cells from somatic cells.
Tags: Factsheets Clinical practice Therapeutics Pharmacogenetics Disease stratification Pharmacogenomics Genomic healthcare
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Gene therapy: repairing or replacing defective genes (The genomic basis of therapeutics. Part 4)This factsheet describes the principles, progress, and challenges of gene therapy.
Tags: Factsheets Clinical practice Therapeutics Pharmacogenetics Microbiology Pharmacogenomics Virology Genomic healthcare
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This factsheet describes how genomic insights have lead to improved treatments for many types of cancer.
Tags: Factsheets Clinical practice Therapeutics Pharmacogenetics Cancer Oncology Pharmacogenomics Genomic healthcare
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Linking genetic family history with NICE Guidelines (familial hypercholesterolaemia: Scenario 2)Use this scenario to understand how a high cholesterol concentration in a patient might be suggestive of FH.
Tags: Autosomal dominant conditions Familial hypercholesterolaemia (FH) NICE guidelines Family history Scenarios Genetic conditions Clinical practice Primary care
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Linking genetic family history with NICE Guidelines (familial hypercholesterolaemia: Scenario 1)Use this scenario to understand how the family history of a patient presenting with high blood pressure might be suggestive of FH.
Tags: Autosomal dominant conditions Familial hypercholesterolaemia (FH) NICE guidelines Family history Scenarios Genetic conditions Clinical practice Primary care
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Prenatal scenarios (Taking and drawing a family history series)Use these two scenarios to understand how a pedigree can clarify family history information in the prenatal setting.
Tags: Autosomal recessive conditions Family history Scenarios Clinical practice Cystic fibrosis (CF) Chromosomal conditions Midwifery Obstetrics and gynaecology Recurrent miscarriages
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A family history of bowel cancer (End of life scenarios. 2)Use this scenario to understand how the family history of a patient with bowel cancer might be suggestive of an inherited predisposition to cancer known as HNPCC (Hereditary non polyposis colorectal cancer).
Tags: Autosomal dominant conditions Nursing Genetic testing Family history Scenarios Clinical practice Cancer Bowel / colon cancer Hereditary non polyposis colorectal cancer (HNPCC) / Lynch syndrome Palliative care Penetrance
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A family history of breast cancer (End of life scenarios. 1)Use this scenario to understand how the family history of a patient with breast cancer might be suggestive of an inherited predisposition to cancer involving either the BRCA1 or BRCA2 gene.
Tags: Autosomal dominant conditions Nursing Genetic testing NICE guidelines Family history Scenarios Clinical practice Cancer BRCA1 BRCA2 Breast cancer Palliative care Penetrance
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Our inheritance, our future - White paper reviewUse this report to understand the progress made in implementing the recommendations from the white paper.
Tags: Clinical practice Reports Policy
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Genetics Service Development Projects ReportUse this report to provide an overview of the Department of Health funded initiatives to integrate genetics into the NHS.
Tags: Familial hypercholesterolaemia (FH) Clinical practice Reports Ophthalmology Patient pathways Primary care Renal medicine Service development
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Use this report to understand patients' views on receiving genetic information from a range of healthcare professionals.
Tags: Clinical practice Reports Communication Genetic risk Patient experiences
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Genetics in your clinical practiceUse this learning needs assessment tool to help identify the genetics competences which are relevant to your practice.
Tags: Competencies Nursing Clinical practice Worksheets Dietetics Allied health professionals Health visiting Midwifery Pharmacy
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Genetics in clinical practice for non-genetics healthcare staff - Competence guidanceAn explanation of the structure and terminology used in Skills for Health competences
Tags: Competencies Factsheets Clinical practice
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Use this article to provide information about the integration of this competence into practice.
Tags: Competencies Nursing Clinical practice Articles Communication Health visiting Midwifery
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Recognising the limitations of your genetics expertise (Nursing Standard competence 6)Use this article to provide information about the integration of this competence into practice.
Tags: Competencies Nursing Clinical practice Articles Health visiting Midwifery
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Use this article to provide information about the integration of this competence into practice.
Tags: Inheritance Competencies Autosomal dominant conditions Autosomal recessive conditions X linked conditions Nursing Clinical practice Articles Chromosomal conditions Genetic risk Health visiting Midwifery
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Use this article to provide information about the integration of this competence into practice.
Tags: Competencies Nursing Genetic testing Clinical practice Articles Ethics Genetic risk Health visiting Midwifery
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Use this article to provide information about the integration of this competence into practice.
Tags: Competencies Nursing Clinical practice Articles Communication Health visiting Informed decision making Midwifery
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Use this article to provide information about the integration of this competence into practice.
Tags: Competencies Nursing Clinical practice Articles Communication Consanguinity Health visiting Midwifery Population ancestry
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Identifying clients who might benefit from genetic services (Nursing Standard competence 1)Use this article to provide information about the integration of this competence into practice.
Tags: Competencies Nursing Family history Clinical practice Articles Communication Drawing a pedigree Health visiting Interpreting family history information Midwifery Referral to clinical genetics
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Introduction to the genetics series - Nursing StandardThis article from Nursing Standard provides a brief introduction to a seven-week series of articles that are underpinned by a competence-based genetics education framework. The series of articles aimed to raise awareness of genetics among nurses, midwives and health visitors and help themdevelop confidence in dealing
appropriately with genetic issues that arise in their area of practice.
Tags: Competencies Nursing Clinical practice Articles Health visiting Midwifery
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UK Workforce Competences for Genetics in Clinical Practice for Non-Genetics Healthcare StaffA framework and a set of nine competences for genetics activities in patient care have been developed by the NHS National Genetics Education and Development Centre and Skills for Health working together with a wide range of health professionals.
Tags: Competencies Factsheets Nursing Clinical practice Dietetics Allied health professionals Health visiting Midwifery Pharmacy
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Enhancing patient care by integrating genetics in clinical practiceUse this handbook to understand the framework of the nine workforce competences, their performance criteria and underpinning knowledge statements.
Tags: Competencies Nursing Clinical practice Worksheets Dietetics Allied health professionals Health visiting Midwifery Pharmacy
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Use this document to understand this workforce competence, its performance criteria and underpinning knowledge statements.
Tags: Competencies Nursing Clinical practice Worksheets Dietetics Allied health professionals Communication Health visiting Midwifery Pharmacy
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Order a genetic laboratory test (UK Worforce Competence 8)Use this document to understand this workforce competence, its performance criteria and the underpinning knowledge statements.
Tags: Competencies Nursing Genetic testing Clinical practice Worksheets Dietetics Allied health professionals Health visiting Midwifery Pharmacy
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Use this document to understand this workforce competence, its performance criteria and the underpinning knowledge statements.
Tags: Competencies Nursing Clinical practice Dietetics Reports Allied health professionals Health visiting Midwifery Patient pathways Pharmacy Referral to clinical genetics
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Assess genetic risk (UK Worforce Competence 6)Use this document to understand this workforce competence, its performance criteria and the underpinning knowledge statements.
Tags: Competencies Nursing Clinical practice Dietetics Reports Allied health professionals Genetic risk Health visiting Midwifery Patient pathways Pharmacy
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Recognise a mode of inheritance in a family (UK Worforce Competence 5)Use this document to understand this workforce competence, its performance criteria and the underpinning knowledge statements.
Tags: Inheritance Competencies Nursing Clinical practice Dietetics Reports Allied health professionals Health visiting Interpreting family history information Midwifery Patient pathways Pharmacy
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Use multi-generational family history information to draw a pedigree (UK Worforce Competence 4)Use this document to understand this workforce competence, its performance criteria and the underpinning knowledge statements.
Tags: Competencies Nursing Family history Clinical practice Dietetics Reports Allied health professionals Drawing a pedigree Health visiting Midwifery Patient pathways Pharmacy
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Gather multi-generational family history information (UK Worforce Competence 3)Use this document to understand this workforce competence, its performance criteria and the underpinning knowledge statements.
Tags: Competencies Nursing Family history Clinical practice Dietetics Reports Allied health professionals Health visiting Midwifery Patient pathways Pharmacy
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Identify individuals with or at risk of genetic conditions (UK Worforce Competence 2)Use this document to understand this workforce competence, its performance criteria and the underpinning knowledge statements.
Tags: Competencies Nursing Family history Clinical practice Dietetics Reports Allied health professionals Genetic risk Health visiting Midwifery Patient pathways Pharmacy
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Identify where genetics is relevant in your area of practice (UK Worforce Competence 1)Use this document to understand this workforce competence, its performance criteria and the underpinning knowledge statements.
Tags: Competencies Nursing Family history Clinical practice Dietetics Reports Allied health professionals Health visiting Midwifery Patient pathways Pharmacy
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How is genetics relevant to my role?This factsheet comprises a set of nine questions that can be used to help you identify how genetics may be relevant to your role. Examples describe how other healthcare professionals have used these activities in their clinical settings.
Tags: Teaching Competencies Factsheets Nursing Clinical practice Dietetics Allied health professionals Health visiting Midwifery Patient pathways Pharmacy