genetics and genomics: alert, ask, and act – identifying the 10% in your practice

Genetics and genomics for healthcarewww.geneticseducation.nhs.uk© 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 healthcarewww.geneticseducation.nhs.uk© 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 healthcarewww.geneticseducation.nhs.uk© 2014 NHS National Genetics and Genomics Education

Centre

GENETIC ENVIRONMENTAL

Duchenne muscular dystrophy

Haemophilia

Peptic ulcerDiabetesSchizophrenia

Tuberculosis

PhenylketonuriaSpina bifidaIschaemic heart diseaseAnkylosing spondylitis

Scurvy

RareGenetics simple

CommonGenetics complex

Genes and disease

Genetics and genomics for healthcarewww.geneticseducation.nhs.uk© 2014 NHS National Genetics and Genomics Education

Centre

ALERTKnow the clues

that might indicate a genetic

condition

ASKCollect

appropriate family history information

ACTAct on the

information you have

Genetics and genomics for healthcarewww.geneticseducation.nhs.uk© 2014 NHS National Genetics and Genomics Education

Centre

ALERTKnow the clues

that might indicate a genetic

condition

Genetics and genomics for healthcarewww.geneticseducation.nhs.uk© 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 healthcarewww.geneticseducation.nhs.uk© 2014 NHS National Genetics and Genomics Education

Centre

www.geneticseducation.nhs.uk

Clinical information for specific conditions

Genetics and genomics for healthcarewww.geneticseducation.nhs.uk© 2014 NHS National Genetics and Genomics Education

Centre

ASKCollect

appropriate family history information

Genetics and genomics for healthcarewww.geneticseducation.nhs.uk© 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 healthcarewww.geneticseducation.nhs.uk© 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 healthcarewww.geneticseducation.nhs.uk© 2014 NHS National Genetics and Genomics Education

Centre

ACTAct on the

information you have

Genetics and genomics for healthcarewww.geneticseducation.nhs.uk© 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 healthcarewww.geneticseducation.nhs.uk© 2014 NHS National Genetics and Genomics Education

Centre

Clinical Genetics Services

Genetics and genomics for healthcarewww.geneticseducation.nhs.uk© 2014 NHS National Genetics and Genomics Education

Centre

ALERTKnow the clues

that might indicate a genetic

condition

ASKCollect

appropriate family history information

ACTAct on the

information you have

Genetics and genomics for healthcarewww.geneticseducation.nhs.uk© 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 healthcarewww.geneticseducation.nhs.uk© 2014 NHS National Genetics and Genomics Education

Centre

Uses of genomics

1. Understanding the basis of diseases

2. Refining diagnoses3. Personalising disease

management4. Predicting drug responses5. Diagnosing infections and tracking

epidemics6. Producing therapies to target genetic

alterations

Genetics and genomics for healthcarewww.geneticseducation.nhs.uk© 2014 NHS National Genetics and Genomics Education

Centre

www.geneticseducation.nhs.uk