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

Question 1

What is a clinical Geneticist. What do they do?

Answer 1

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!!

Question 2

Burden of Genetic disease

Answer 2

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

Question 3

Genetic Counselling

Answer 3

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

Question 4

What do genetic counselors do?

Answer 4

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

Question 5

What causes SUDY (sudden unexplained death in the young)

Answer 5

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

Question 6

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

Answer 6

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

Question 7

Dysmorphology

Answer 7

an ‘art’ of looking at a collection of unusual features&raquo_space; identify syndrome.
Finding a pattern away from the norm.

Question 8

Reasons for paediatric referrals

Answer 8

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

Question 9

Detailed chromosomal Analysis ‘Karyotype’

Answer 9

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

Question 10

Molecular karyotype

Answer 10

Way more detail

Question 11

Individual genes

Answer 11

super huge amount of detail

Question 12

Families often come in for testing for one conditions…

Answer 12

but can leave with a completely different diagnosis.

Question 13

Whats so important about diagnosis

Answer 13

explanation
prognosis
guides management
Beneficial when applying for educational support
-avoid

Question 14

Take home message

Answer 14

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

Question 15

Precision medicine

Answer 15

Treating INDIVIDUALS in how to respond to medicine

Question 16

Preconceptual Medicine

Answer 16

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