Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Genetics and Genomics: Alert, Ask, and Act – Identifying the 10% in your practice

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre 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.

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre GENETIC ENVIRONMENTAL Duchenne muscular dystrophy Haemophilia Peptic ulcer Diabetes Schizophrenia Tuberculosis Phenylketonuria Spina bifida Ischaemic heart disease Ankylosing spondylitis Scurvy Rare Genetics simple Common Genetics complex Genes and disease

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre ALERT Know the clues that might indicate a genetic condition ASK Collect appropriate family history information ACT Act on the information you have

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre ALERT Know the clues that might indicate a genetic condition

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre 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

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Clinical information for specific conditions

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre ASK Collect appropriate family history information

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre 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)

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre How should the information be recorded? Longhand notes Family history form Family tree

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre ACT Act on the information you have

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre 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

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Clinical Genetics Services

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre ALERT Know the clues that might indicate a genetic condition ASK Collect appropriate family history information ACT Act on the information you have

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre 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

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre 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

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre