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Genetic Counselling

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

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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 studies • Maternal Serum Screening • 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 1:Maternal Serum Screening “Thank-you for seeing Jane who has an increased risk result for Down syndrome on her Maternal Serum Screening test. She is currently 16 weeks pregnant and would like to discuss her options for this pregnancy”

  10. MSS- information • What is MSS? • Risk Counselling • 33 years of age- risk 1 in 545 • MSS result- 1 in 50 • What is Down syndrome? • Chromosomes • Characteristics of Down syndrome • Screening v diagnostic testing • Options • No further testing • Ultrasound • amniocentesis

  11. MSS- Counselling Issues • Reaction to the result • Anxiety • Confusion • Uncertainty • Normalisation of reactions • Level of certainty wanted • Termination of pregnancy • Differing views of partners • Assist in decision making process

  12. Case 2:Cystic fibrosis (CF) “Thanks for seeing John, an 18 yo man whose half sister died of CF last year. John is concerned by the genetics of this condition and is requesting screening. He has no other siblings or distant family members with CF”

  13. 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

  14. C C C c c C c c Cystic fibrosis - 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%

  15. CF – Counselling Issues • Grief and loss • Living with CF • Pre-existing knowledge base • What is John’s risk of being a carrier… • if half-brother? • if full-brother? • Limitations of genetic testing • Options if he is a carrier

  16. Half sibs C c x CC • 1/2 chance C C C c

  17. Full sibs C c x C c • 2/3 chance  C C C c c C c c

  18. 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)

  19. Other pathways for Genetic Counsellor’s • Education • Research • Support Groups • Further studies (ie. PHd) • Ultrasound practices • IVF practices

  20. 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

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

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