Genetics: Application - Clinical Genetics

Question 1

when is symptomatic testing done

Answer 1

to find the cause of disease in patient

Question 2

in symptomatic testing what does finding a mutation mean

Answer 2

• we know the origin of disease
• confirms diagnosis, indicates treatment
• can now test family members

Question 3

in symptomatic testing what does not finding a mutation mean

Answer 3

• disease is still present

- have to base treatment of clinical parameters

Question 4

when is pre-symptomatic testing done

Answer 4

patient has a relative with known disease and wants to find out for themselves

Question 5

in pre-symptomatic testing what does
- finding a mutation
- not finding a mutations
mean

Answer 5

• confirms patient will develop disease

- patients won’t develop disease

Question 6

genetic treatments (5)

Answer 6

• typical pharmacological interventions
• gene therapy
• gene editing
• RNA modification
• phenotype intervention

Question 7

how are we better able to characterise tumours and bacteria

Answer 7

by looking at their DNA sequence compared to looking at them/culture

Question 8

what are the options in pregnancy with mutation

Answer 8

• continue with pregnancy and take indicated interventions and comfort care
• terminate pregnancy

Question 9

what does genetic information provide a patient with

Answer 9

• a risk not diagnosis

- can talk to them about risk factor modification

Question 10

how do you determine a pregnancy risk

Answer 10

• take mums risk x dads risk x 1/4
  i.e. mum is carried, dad isn’t
  2/3 (relative) x 1/24 (pop risk) x 1/4 = 1/144

Question 11

what is genetic discrimination

Answer 11

people with certian mutations may be less likely to be sold insurance, etc