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 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. 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. “ 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” Case 2:Cystic fibrosis (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. Cystic fibrosis - inheritance C c xC c } C C c c Cc c C Unaffected carriersaffected no CF gene changes 1 CF gene change 2 CF gene changes homozygous unaffected heterozygous homozygous affected 25%50%25% Carrier parents

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 1/2 chance C cx CC C CC c

17. Full sibs 2/3 chance C cxC c  CCccCccC

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 10 th 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