The Role of the Clinical Genetics Service
This PowerPoint file contains a number of slides that may be useful for teaching of
genetics concepts.
You may use these slides and their contents for non-commercial educational purposes.
• Reasons to refer to CGS
• Definition of genetic counselling
• Aims of Genetic Counselling.
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Why are people referred?
• Child:
– Birth anomalies
– Dysmorphic features
– Learning difficulties.
• Adult:
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–
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–
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Diagnosis
Predictive testing
Carrier testing
Family history (including cancer)
Fetal loss or recurrent miscarriages.
• Pregnancy:
– Known genetic disorder
– Abnormality detected on screening.
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
What is genetic counselling?
“An education process that seeks to assist affected (and/or ‘at
risk’) individuals to understand the nature of the genetic disorder,
the nature of its transmission and the options open to them in
management and family planning.”
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Reasons for Clinical Genetics Referral
• Affected child/adult for investigation or diagnosis
• Family history of genetic disorder or condition with genetic component
• Fetal loss/abnormality
Information
• Recurrent miscarriages
• Strong family history of cancer
Diagnostic
Testing
Predictive
testing
© 2009 NHS National Genetics Education and Development Centre
Carrier
testing
Prenatal
testing
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Aims of genetic counselling
Give information:
• What is the condition?
• Inform people of the medical facts
• Talk about treatment and prognosis
• Explain inheritance
• Discuss chance of happening again.
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Talk about choices:
• Whether to have genetic tests
• Whether to have more children
• Whether to have tests during pregnancy.
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Offer support to all the family
• Offer clinic appointment to other family members
• Offer genetic tests to those at risk.
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Genetic testing of Children
• Beneficial if:
– Confirming a suspected diagnosis
– Removing need for invasive procedures.
• Problematic if:
– Carrier testing a healthy child
– Predictive testing for adult-onset condition.
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Making a genetic diagnosis
• Family tree
– to detect a pattern of inheritance
• Physical examination
– to give precise diagnosis
• Genetic tests
– Chromosomes (karyotype)
– Genes (DNA testing).
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk