Genetic Counselling  Katherine Ruivenkamp Associate Genetic Counsellor Genetic Health Services Victoria
Overview <ul><li>What is genetic counselling? </li></ul><ul><li>Case study </li></ul><ul><ul><li>Cystic fibrosis </li></ul...
What is Genetic counselling <ul><li>Information </li></ul><ul><li>Education </li></ul><ul><li>Counselling and support </li...
Team work <ul><li>Medical geneticists </li></ul><ul><ul><ul><li>Medically trained  </li></ul></ul></ul><ul><ul><ul><li>Dia...
Where do genetic counsellor’s work in Victoria <ul><li>The Royal Children’s Hospital </li></ul><ul><li>The Royal Women’s H...
Genetic Counselling  <ul><ul><li>Family history  of single gene disorder eg: cystic fibrosis, haemophilia, muscular dystro...
Genetic Counselling <ul><ul><li>Pregnancy  Counselling </li></ul></ul><ul><ul><ul><li>Pre-conceptual </li></ul></ul></ul><...
Genetic Counselling <ul><ul><li>Speciality clinics  (diagnosis, advice & management) </li></ul></ul><ul><ul><ul><li>Cancer...
<ul><li>“ Thanks for seeing John, a 28 year old man whose sister died of Cystic Fibrosis last year.  John is concerned by ...
CF- information <ul><li>Pre-counselling intake </li></ul><ul><ul><li>Pedigree, information gathering, make appointment, el...
CF- inheritance C  c   x C  c } Unaffected  carriers affected no CF gene changes   1 CF gene change   2 CF gene changes ho...
CF- Carrier risk <ul><li>2/3 chance </li></ul>C  c x C  c  C C c c C c c C
CF- Counselling Issues <ul><li>Grief & loss </li></ul><ul><li>Living with CF & pre-existing knowledge </li></ul><ul><li>Pr...
Genetic Counsellors <ul><li>Health professionals with varied backgrounds  </li></ul><ul><ul><li>Nursing, teaching, social ...
Other pathways for Genetic Counsellor’s <ul><li>Education  </li></ul><ul><li>Research </li></ul><ul><li>Support Groups </l...
Genetic Counselling:- <ul><li>Ms Margaret Sahhar </li></ul><ul><li>Convenor – Graduate Diploma in Genetic Counselling </li...
My Background and Job <ul><li>Background: BSc, MSc (Genetic Counselling) </li></ul><ul><li>First job: Maternal Serum Scree...
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2-s2-kr.ppt

  1. 1. Genetic Counselling Katherine Ruivenkamp Associate Genetic Counsellor Genetic Health Services Victoria
  2. 2. Overview <ul><li>What is genetic counselling? </li></ul><ul><li>Case study </li></ul><ul><ul><li>Cystic fibrosis </li></ul></ul><ul><li>How do you become a genetic counsellor? </li></ul><ul><li>My background and job </li></ul>
  3. 3. What is Genetic counselling <ul><li>Information </li></ul><ul><li>Education </li></ul><ul><li>Counselling and support </li></ul><ul><ul><li>practical and emotional </li></ul></ul><ul><ul><li>decision making </li></ul></ul><ul><li>Informed choices </li></ul>
  4. 4. Team work <ul><li>Medical geneticists </li></ul><ul><ul><ul><li>Medically trained </li></ul></ul></ul><ul><ul><ul><li>Diagnosis & management </li></ul></ul></ul><ul><ul><ul><li>Syndrome diagnosis </li></ul></ul></ul><ul><ul><ul><li>Management advice (ie. Cancer) </li></ul></ul></ul><ul><ul><ul><li>Management clinics (ie. bone dysplasias) </li></ul></ul></ul><ul><li>Other health professionals </li></ul><ul><ul><ul><li>Obstetricians, Oncologists, Gastroenterologists, Social Workers and more </li></ul></ul></ul>
  5. 5. Where do genetic counsellor’s work in Victoria <ul><li>The Royal Children’s Hospital </li></ul><ul><li>The Royal Women’s Hospital </li></ul><ul><li>Monash Medical Centre </li></ul><ul><li>Mercy Hospital for Women </li></ul><ul><li>Royal Melbourne Hospital </li></ul><ul><li>Peter MacCallum </li></ul><ul><li>The Alfred Hospital </li></ul><ul><li>Rural & Regional Victoria </li></ul>
  6. 6. Genetic Counselling <ul><ul><li>Family history of single gene disorder eg: cystic fibrosis, haemophilia, muscular dystrophy, hemochromatosis, Huntington disease </li></ul></ul><ul><ul><ul><li>Carrier testing, predictive testing </li></ul></ul></ul><ul><ul><li>Recurrence risk counselling eg: NTD, Down syndrome, Prader Willi syndrome, chromosome abnormalities (translocations, deletions) </li></ul></ul><ul><ul><li>Prenatal screening and testing counselling </li></ul></ul><ul><ul><ul><li>Screening tests (NT, MSS) </li></ul></ul></ul><ul><ul><ul><li>Diagnositic tests (CVS, amnio) </li></ul></ul></ul>
  7. 7. Genetic Counselling <ul><ul><li>Pregnancy Counselling </li></ul></ul><ul><ul><ul><li>Pre-conceptual </li></ul></ul></ul><ul><ul><ul><li>Consanguinity </li></ul></ul></ul><ul><ul><ul><li>Following diagnosis of fetal abnormality </li></ul></ul></ul><ul><ul><ul><li>Teratogen exposure </li></ul></ul></ul><ul><ul><li>Support after fetal loss or genetic diagnosis in child </li></ul></ul><ul><ul><ul><li>Grief counselling, support groups, community resources and other health professionals </li></ul></ul></ul>
  8. 8. Genetic Counselling <ul><ul><li>Speciality clinics (diagnosis, advice & management) </li></ul></ul><ul><ul><ul><li>Cancer </li></ul></ul></ul><ul><ul><ul><li>Dysmorphology </li></ul></ul></ul><ul><ul><ul><li>Neurogenetics </li></ul></ul></ul><ul><ul><ul><li>Bone dysplasias </li></ul></ul></ul><ul><ul><ul><li>Metabolic </li></ul></ul></ul><ul><ul><li>General discussion about genetic issues </li></ul></ul><ul><ul><ul><li>Genetic testing of children eg: CF carrier testing, cancer syndromes </li></ul></ul></ul><ul><ul><ul><li>Value, if any, of genetic testing </li></ul></ul></ul><ul><ul><ul><li>Impact of genetic information on family unit </li></ul></ul></ul>
  9. 9. <ul><li>“ 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.” </li></ul>Case: Cystic fibrosis (CF)
  10. 10. CF- information <ul><li>Pre-counselling intake </li></ul><ul><ul><li>Pedigree, information gathering, make appointment, elicit questions/concerns </li></ul></ul><ul><li>What is CF? </li></ul><ul><ul><li>Digestive & respiratory system </li></ul></ul><ul><ul><li>Incidence of 1 in 2500 </li></ul></ul><ul><li>Genetics </li></ul><ul><ul><li>c ystic f ibrosis t ransmembrane conductance r egulator (CFTF) </li></ul></ul><ul><ul><li>Genetic testing (Over 1000 mutations) </li></ul></ul><ul><li>Inheritance </li></ul><ul><ul><li>Autosomal recessive </li></ul></ul>
  11. 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. 12. CF- Carrier risk <ul><li>2/3 chance </li></ul>C c x C c  C C c c C c c C
  13. 13. CF- Counselling Issues <ul><li>Grief & loss </li></ul><ul><li>Living with CF & pre-existing knowledge </li></ul><ul><li>Prior risks </li></ul><ul><ul><li>Risk of affected child: 2/3 x 1/25 x ¼= 1/150 </li></ul></ul><ul><li>Possible results from carrier testing </li></ul><ul><ul><li>Carrier: 1 x 1/25 x ¼= 1/100 </li></ul></ul><ul><ul><li>Non-carrier: low risk </li></ul></ul><ul><li>Options if a carrier </li></ul><ul><ul><li>Testing of partner </li></ul></ul><ul><ul><ul><li>Partner carrier: 1 in 4 risk of affected child </li></ul></ul></ul><ul><ul><ul><li>Partner non-carrier: low risk </li></ul></ul></ul><ul><ul><li>Prenatal testing, or IVF & PGD </li></ul></ul><ul><li>Limitations of genetic testing </li></ul>
  14. 14. Genetic Counsellors <ul><li>Health professionals with varied backgrounds </li></ul><ul><ul><li>Nursing, teaching, social work, science etc </li></ul></ul><ul><li>Post graduate course in Genetic Counselling (1 yr) </li></ul><ul><ul><li>University of Melbourne, Melbourne </li></ul></ul><ul><ul><li>Griffith University, Brisbane </li></ul></ul><ul><ul><li>Newcastle University, Newcastle </li></ul></ul><ul><ul><li>Charles Sturt University, by correspondence </li></ul></ul><ul><li>Human Genetics Society of Australasia certification (minimum of 2 yrs) </li></ul>
  15. 15. Other pathways for Genetic Counsellor’s <ul><li>Education </li></ul><ul><li>Research </li></ul><ul><li>Support Groups </li></ul><ul><li>Further studies </li></ul><ul><li>Ultrasound practices </li></ul><ul><li>IVF practices </li></ul>
  16. 16. Genetic Counselling:- <ul><li>Ms Margaret Sahhar </li></ul><ul><li>Convenor – Graduate Diploma in Genetic Counselling </li></ul><ul><li>10 th Floor Royal Children’s Hospital </li></ul><ul><li>Ph: (03) 8341 6256 </li></ul><ul><li>[email_address] </li></ul>
  17. 17. My Background and Job <ul><li>Background: BSc, MSc (Genetic Counselling) </li></ul><ul><li>First job: Maternal Serum Screening </li></ul><ul><li>Current Job: Monash Medical Centre </li></ul>
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