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Genetic Counselling
Katherine RuivenkampAssociate 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
What is Genetic counselling
Information Education Counselling and support
practical and emotional decision making
Informed choices
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
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
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)
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
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
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”
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
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
“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)
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
Cystic fibrosis - inheritance
C c x C c
}C C cc C ccC
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
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
Half sibs
1/2 chance
C c x CC
C C C c
Full sibs
2/3 chance
C c x C c
C C cc C ccC
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)
Other pathways for Genetic Counsellor’s
Education Research Support Groups Further studies (ie. PHd) Ultrasound practices IVF practices
Genetic Counselling:-
Ms Margaret SahharConvenor – Graduate Diploma in Genetic Counselling10th Floor Royal Children’s HospitalPh: (03) 8341 6256margaret.sahhar@ghsv.org.au
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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