genetics and genomics: alert, ask, and act – identifying the 10% in your practice
DESCRIPTION
Genetics and Genomics: Alert, Ask, and Act – Identifying the 10% in your practice. Hopkinson , I. Presentation at reality not hype: the new genetics in primary care, 2004. One in 10 patients seen in primary care has a disorder with a genetic component. Genes and disease. - PowerPoint PPT PresentationTRANSCRIPT
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