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  • 1. Genetic Counselling Katherine Ruivenkamp Associate Genetic Counsellor Genetic Health Services Victoria
  • 2. Overview
    • What is genetic counselling?
    • Case study
      • Cystic fibrosis
    • How do you become a genetic counsellor?
    • My background and job
  • 3. What is Genetic counselling
    • Information
    • Education
    • Counselling and support
      • practical and emotional
      • decision making
    • Informed choices
  • 4. Team work
    • Medical geneticists
        • Medically trained
        • Diagnosis & management
        • Syndrome diagnosis
        • Management advice (ie. Cancer)
        • Management clinics (ie. bone dysplasias)
    • Other health professionals
        • Obstetricians, Oncologists, Gastroenterologists, Social Workers and more
  • 5. Where do genetic counsellor’s work in Victoria
    • The Royal Children’s Hospital
    • The Royal Women’s Hospital
    • Monash Medical Centre
    • Mercy Hospital for Women
    • Royal Melbourne Hospital
    • Peter MacCallum
    • The Alfred Hospital
    • Rural & Regional Victoria
  • 6. Genetic Counselling
      • Family history of single gene disorder eg: cystic fibrosis, haemophilia, muscular dystrophy, hemochromatosis, Huntington disease
        • Carrier testing, predictive testing
      • Recurrence risk counselling eg: NTD, Down syndrome, Prader Willi syndrome, chromosome abnormalities (translocations, deletions)
      • Prenatal screening and testing counselling
        • Screening tests (NT, MSS)
        • Diagnositic tests (CVS, amnio)
  • 7. Genetic Counselling
      • Pregnancy Counselling
        • Pre-conceptual
        • Consanguinity
        • Following diagnosis of fetal abnormality
        • Teratogen exposure
      • Support after fetal loss or genetic diagnosis in child
        • Grief counselling, support groups, community resources and other health professionals
  • 8. Genetic Counselling
      • Speciality clinics (diagnosis, advice & management)
        • Cancer
        • Dysmorphology
        • Neurogenetics
        • Bone dysplasias
        • Metabolic
      • General discussion about genetic issues
        • Genetic testing of children eg: CF carrier testing, cancer syndromes
        • Value, if any, of genetic testing
        • Impact of genetic information on family unit
  • 9.
    • “ Thanks for seeing John, a 28 year old man whose sister died of Cystic Fibrosis last year. John is concerned by the genetics of this condition and is requesting screening.”
    Case: Cystic fibrosis (CF)
  • 10. CF- information
    • Pre-counselling intake
      • Pedigree, information gathering, make appointment, elicit questions/concerns
    • What is CF?
      • Digestive & respiratory system
      • Incidence of 1 in 2500
    • Genetics
      • c ystic f ibrosis t ransmembrane conductance r egulator (CFTF)
      • Genetic testing (Over 1000 mutations)
    • Inheritance
      • Autosomal recessive
  • 11. CF- inheritance C c x C c } Unaffected carriers affected no CF gene changes 1 CF gene change 2 CF gene changes homozygous unaffected heterozygous homozygous affected 25% 50% 25% Carrier parents C C c c C c c C
  • 12. CF- Carrier risk
    • 2/3 chance
    C c x C c  C C c c C c c C
  • 13. CF- Counselling Issues
    • Grief & loss
    • Living with CF & pre-existing knowledge
    • Prior risks
      • Risk of affected child: 2/3 x 1/25 x ¼= 1/150
    • Possible results from carrier testing
      • Carrier: 1 x 1/25 x ¼= 1/100
      • Non-carrier: low risk
    • Options if a carrier
      • Testing of partner
        • Partner carrier: 1 in 4 risk of affected child
        • Partner non-carrier: low risk
      • Prenatal testing, or IVF & PGD
    • Limitations of genetic testing
  • 14. Genetic Counsellors
    • Health professionals with varied backgrounds
      • Nursing, teaching, social work, science etc
    • Post graduate course in Genetic Counselling (1 yr)
      • University of Melbourne, Melbourne
      • Griffith University, Brisbane
      • Newcastle University, Newcastle
      • Charles Sturt University, by correspondence
    • Human Genetics Society of Australasia certification (minimum of 2 yrs)
  • 15. Other pathways for Genetic Counsellor’s
    • Education
    • Research
    • Support Groups
    • Further studies
    • Ultrasound practices
    • IVF practices
  • 16. Genetic Counselling:-
    • Ms Margaret Sahhar
    • Convenor – Graduate Diploma in Genetic Counselling
    • 10 th Floor Royal Children’s Hospital
    • Ph: (03) 8341 6256
    • [email_address]
  • 17. My Background and Job
    • Background: BSc, MSc (Genetic Counselling)
    • First job: Maternal Serum Screening
    • Current Job: Monash Medical Centre