Explanation slides - The role of the Clinical Genetics Services

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  • 1.
    • 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.
    • More slides will be added to this series shortly.
    • Reasons to refer to CGS
    • Definition of genetic counselling
    • Aims of Genetic Counselling.
    The Role of the Clinical Genetics Service
  • 2. Why are people referred?
    • Child:
      • Birth anomalies
      • Dysmorphic features
      • Learning difficulties.
    • Adult:
      • Diagnosis
      • Predictive testing
      • Carrier testing
      • Family history (including cancer)
      • Fetal loss or recurrent miscarriages.
    • Pregnancy:
      • Known genetic disorder
      • Abnormality detected on screening.
  • 3. 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.”
  • 4. 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
    • Recurrent miscarriages
    • Strong family history of cancer
    Prenatal testing Carrier testing Predictive testing Diagnostic Testing Information
  • 5. Aims of genetic counselling
    • What is the condition?
    • Inform people of the medical facts
    • Talk about treatment and prognosis
    • Explain inheritance
    • Discuss chance of happening again.
    Give information:
  • 6.
    • Whether to have genetic tests
    • Whether to have more children
    • Whether to have tests during pregnancy.
    Talk about choices:
  • 7. Offer support to all the family
    • Offer clinic appointment to other family members
    • Offer genetic tests to those at risk.
  • 8. 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.
  • 9. 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).