Who is Genetic Services Administrative Staff Genetic Counsellors Clinical Geneticists Registries Familial Cancer Research Nurses Laboratories Clinical staff divided into three different areas ID: 915383
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Slide1
Dr Cathryn Poulton
Genetic Services of WA
Slide2Who is Genetic Services?
Administrative Staff
Genetic CounsellorsClinical GeneticistsRegistries (Familial Cancer)Research Nurses LaboratoriesClinical staff divided into threedifferent areas:PaediatricsKEMH (adult and prenatal)Familial
Slide3Clinic Locations
Perth
JoondalupRockinghamGeraldtonPort HedlandBunburyAlbanyKalgoorlie
Slide4Genetic Counselling
Genetic counselling is a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions
(Human Genetics Society of Australasia)
Slide5Why
see genetics
?A diagnosis can mean that parents are able to find support and information relevant to their child, ie support groupsDiagnosis may impact managementParents may wish to know recurrence risk for future pregnanciesOptions for prenatal testing in subsequent pregnancies
May affect other family members who are starting families
Emotional support for adjustment to diagnosis and coping
Slide6What to expect at a genetics appointment
Long appointment (an hour)
A LOT of talkingWe will ask about family history, pregnancy history, developmental history and medical historyExamination and examination of family membersPhotos?blood test
Slide7Noonan Syndrome
Genetic condition
Affects different body parts (multi system)Autosomal Dominant Diagnosis can be made clinically (set criteria)Genetic testing can confirm the diagnosis in up to 70% of cases
Slide8DNA
Slide9Slide10Slide11Genes identified in Noonan syndrome
Slide12Management Guidelines
https://
rasopathiesnet.org/wp-content/uploads/2014/01/265_Noonan_Guidelines.pdf
Slide13Pregnancy Planning
Options available depend on:
Known diagnosis- pattern of inheritanceParents affected (50% risk for offspring) or unaffectedResults from genetic testingIndividual, couple and family values and beliefsPerceptions about risk, burden and variability of conditionPerceptions about risks of testing
Slide14OPTIONS
Taking no action
If gene change known-Becoming pregnant naturally then having prenatal diagnosis (CVS or amniocentesis)IVF to create embryos then performing testing called preimplantation genetic diagnosis (PGD)
Slide15Chorionic Villus Sampling (CVS)
Testing of a small sample of the placenta
Between the 11th and 13th week of pregnancyPosition of the placentaRisk of miscarriage is approx 1 in 500
Slide16Amniocentesis
Testing of the amniotic fluid
Between 15th and 19th week of pregnancyRisk of miscarriage is approximately 1 in 1000
Slide17Preimplantation Genetic Diagnosis (PGD)
Use of assisted reproductive technology (IVF) to create embryos
Embryos tested for known gene changeSelection of unaffected embryos for transferCost not covered by Medicare
No guarantee of a pregnancy
Slide18COUNSELLING ASPECTS
Explore feelings about a diagnosis-
shockgriefguiltno big dealangershame
Slide19Coping with a genetic diagnosis
Reactions of family, friends and strangers
Uncertainty and worries about the future How to talk about a diagnosis with the affected child and othersContact with other parents and others affected with/by the same conditionResources
Slide20Talking with children about genetic disorders
Incorporating genetic information into self-identity
A different, not necessarily worse, realityInformation sharing as a continuumEstablishing considered words/phrases/dialogue;(By taking time to prepare your story before sharing it with others, you can take control over the story you choose to communicate)
Slide21What can I say?
Phrases with neutral words:
The recipe for my skin is a bit different, but otherwise I’m just the sameEveryone’s different, one of my differences is my ……..I might be shorter than you because my recipe’s a bit different but I’m just as grown-up as you