Medical genetics in the clinic

Question 1

Discuss the relevance of knowledge of basic mechanisms of disease in patient management. 


Answer 1

Needed to accurately diagnose a condition and also provide accurate and therapeutically beneficial treatment. Need to know how the disease usually progresses to evaluate if the treatment is effective.

Question 2

Discuss the application of genetic technology to patient care 


Answer 2

Screening - catch disease before apparent
Disease stratification
Predicting prognosis
Can watch for linked secondary maligancies
In future use genetic technology as treatment
Personalised medicine

Question 3

Describe the importance of interpreting genetic test results in the clinic 


Answer 3

It is important that you are able to interpret results in order to inform the patients and other healthcare providers correctly

Question 4

What is genetic counselling?

Answer 4

Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning

Question 5

Describe Sanger sequencing

Answer 5

Sanger sequencing is a method of based on the selective incorporation of chain-terminating dideoxynucleotides by DNA polymerase during in vitro DNA replication. The ddNTPs may be radioactively or fluorescently labeled for detection in automated sequencing machines