Lecture 19- A day in the life of a clinical geneticist Flashcards Preview

POM > Lecture 19- A day in the life of a clinical geneticist > Flashcards

Flashcards in Lecture 19- A day in the life of a clinical geneticist Deck (16)
Loading flashcards...

What is a clinical Geneticist. What do they do?

Doctor with specialist training in medical genetics

-Consult, thinkers
-Diagnosis and clinical management of genetic disease
-Identification of preventable complication by early surveillance
-consultations around reproductive implications of genetic disorders and reproductive options.
-Advice about inheritance of genetic conditions
-info and genetic testing for those affected by or perceived to be at risk of genetic disorders in extended families
-Genetics education

Mainly chromosomal & single gene testing!!


Burden of Genetic disease

71% of children admitted had an underlying disorder with a genetic components


Genetic Counselling

Communication process which aims to help individuals, couples and families understand & adapt to the medical, psychological, familial and reproductive implication of the genetic component of specific health conditions


What do genetic counselors do?

Work with people that already have the diagnosis
-Provide info in 'plain language'/in a way the patients can understand
-explains genetic risk, current testing and research
-explores impact on patient and family
-identifies issues and negative psychological outcomes and provide support & strategies to help the deal
-Help decision making
-Advocate for patients/family


What causes SUDY (sudden unexplained death in the young)

20/1 000 000
in NZ there are Coronial cases, Postmortem performed
+ in 2/3 cases, many cardiac related deaths
- in 1/3 cases

All - cases of SUDY under 40 years old referred to the CIDG team at auckland hospital


Cost of genetic testing is ___ all the time, pick up rate is __%, but ___ variants can be hard to interpret

Cost of genetic testing is dropping all the time, pick up rate is 50%, but missense variant can be hard to interpret



an 'art' of looking at a collection of unusual features >> identify syndrome.
Finding a pattern away from the norm.


Reasons for paediatric referrals

-Concerns over unusual appearance
-collection of structural issues with no obvious cause
-developmentally delayed
-brain abnormalities


Detailed chromosomal Analysis 'Karyotype'

Crude test: Picks up big things, big insertions / deletions


Molecular karyotype

Way more detail


Individual genes

super huge amount of detail


Families often come in for testing for one conditions...

but can leave with a completely different diagnosis.


Whats so important about diagnosis

guides management
Beneficial when applying for educational support


Take home message

mid 20's, been to many doctors, but no-one had stopped and put the information together, this could've stopped the woman having a mid trimester termination


Precision medicine

Treating INDIVIDUALS in how to respond to medicine


Preconceptual Medicine

New genetic test to have pre-pregnancy, eradication of significant numbers of genetic by parents deciding not to have a child with the condition
-what about those without access to these tests? Feel forced to have tests?
-If there is a loss of support from community from those with disease