when is symptomatic testing done
to find the cause of disease in patient
in symptomatic testing what does finding a mutation mean
- we know the origin of disease
- confirms diagnosis, indicates treatment
- can now test family members
in symptomatic testing what does not finding a mutation mean
- disease is still present
- have to base treatment of clinical parameters
when is pre-symptomatic testing done
patient has a relative with known disease and wants to find out for themselves
in pre-symptomatic testing what does
- finding a mutation
- not finding a mutations
mean
- confirms patient will develop disease
- patients won’t develop disease
genetic treatments (5)
- typical pharmacological interventions
- gene therapy
- gene editing
- RNA modification
- phenotype intervention
how are we better able to characterise tumours and bacteria
by looking at their DNA sequence compared to looking at them/culture
what are the options in pregnancy with mutation
- continue with pregnancy and take indicated interventions and comfort care
- terminate pregnancy
what does genetic information provide a patient with
- a risk not diagnosis
- can talk to them about risk factor modification
how do you determine a pregnancy risk
- 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
what is genetic discrimination
people with certian mutations may be less likely to be sold insurance, etc
