Transcript Slide 1
Genetics and Genomics: Alert, Ask, and Act – Identifying the 10% in your practice © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk One in 10 patients seen in primary care has a disorder with a genetic component Hopkinson, I. Presentation at reality not hype: the new genetics in primary care, 2004. © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk Genes and disease Duchenne muscular dystrophy Haemophilia Peptic ulcer Diabetes Schizophrenia Tuberculosis GENETIC Phenylketonuria Rare Genetics simple © 2014 NHS National Genetics and Genomics Education Centre ENVIRONMENTAL Scurvy Spina bifida Ischaemic heart disease Ankylosing spondylitis Common Genetics complex Genetics and genomics for healthcare www.geneticseducation.nhs.uk ALERT ASK ACT Know the clues that might indicate a genetic condition Collect appropriate family history information Act on the information you have © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk ALERT Know the clues that might indicate a genetic condition © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk General clues • Multiple closely related people with the same condition • Disorders that occur at a younger age than usual (eg colon cancer, breast cancer, dementia) • Sudden cardiac deaths in people who seemed healthy • Three or more pregnancy losses • Medical problems in children of parents related by blood • Congenital anomalies, dysmorphic features and developmental delay © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk Clinical information for specific conditions www.geneticseducation.nhs.uk © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk ASK Collect appropriate family history information © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk What information should you collect? • Information depends on the context and reason for collecting: • Establish biological relationships • Clarify the medical conditions that people have • Three generations • For each person: • Full name • Date of birth (or age) • Date of death (or age died) • Medical information (age at diagnosis) © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk How should the information be recorded? • Longhand notes • Family history form • Family tree © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk ACT Act on the information you have © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk • Reassure – Knowledge of the condition – Local/national referral guidelines • Refer – Refer to guidelines – To the GP or clinical genetics service • Seek further advice – Trusted sources of information – Clinical Genetics Department On-Call Service © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk Clinical Genetics Services © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk ALERT ASK ACT Know the clues that might indicate a genetic condition Collect appropriate family history information Act on the information you have © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk Genomics • The ‘genome’ – The genetic make-up of a living thing • Genomics in healthcare may involve the genome of: – a person – a pathogen – a tumour © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk Uses of genomics 1. Understanding the basis of diseases 2. Refining diagnoses 3. Personalising disease management 4. Predicting drug responses 5. Diagnosing infections and tracking epidemics 6. Producing therapies to target genetic alterations © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk www.geneticseducation.nhs.uk © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare www.geneticseducation.nhs.uk