Genetics: Application - Clinical Genetics Flashcards Preview

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Flashcards in Genetics: Application - Clinical Genetics Deck (11)
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1
Q

when is symptomatic testing done

A

to find the cause of disease in patient

2
Q

in symptomatic testing what does finding a mutation mean

A
  • we know the origin of disease
  • confirms diagnosis, indicates treatment
  • can now test family members
3
Q

in symptomatic testing what does not finding a mutation mean

A
  • disease is still present

- have to base treatment of clinical parameters

4
Q

when is pre-symptomatic testing done

A

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

5
Q

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

A
  • confirms patient will develop disease

- patients won’t develop disease

6
Q

genetic treatments (5)

A
  • typical pharmacological interventions
  • gene therapy
  • gene editing
  • RNA modification
  • phenotype intervention
7
Q

how are we better able to characterise tumours and bacteria

A

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

8
Q

what are the options in pregnancy with mutation

A
  • continue with pregnancy and take indicated interventions and comfort care
  • terminate pregnancy
9
Q

what does genetic information provide a patient with

A
  • a risk not diagnosis

- can talk to them about risk factor modification

10
Q

how do you determine a pregnancy risk

A
  • 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
11
Q

what is genetic discrimination

A

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

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