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Genetic Counselling

Genetic Counselling . Katherine Ruivenkamp Associate Genetic Counsellor Genetic Health Services Victoria. Overview. What is genetic counselling? Case study Cystic fibrosis How do you become a genetic counsellor? My background and job. What is Genetic counselling. Information Education

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Genetic Counselling

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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 screeningand 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. Case: Cystic fibrosis (CF) “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.”

  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 • cystic fibrosis transmembrane conductance regulator (CFTF) • Genetic testing (Over 1000 mutations) • Inheritance • Autosomal recessive

  11. C C C c c C c c CF- inheritance Carrier parents 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%

  12. CF- Carrier risk C c x C c • 2/3 chance  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 10th Floor Royal Children’s Hospital Ph: (03) 8341 6256 margaret.sahhar@ghsv.org.au

  17. My Background and Job • Background: BSc, MSc (Genetic Counselling) • First job: Maternal Serum Screening • Current Job: Monash Medical Centre

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