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

11. CF- 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

12. CF- Carrier risk 2/3 chance C cxC c  CCccCccC

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 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