Genetics in Clinical Practice Flashcards Preview

Principles of Disease > Genetics in Clinical Practice > Flashcards

Flashcards in Genetics in Clinical Practice Deck (8)
Loading flashcards...
1

What are the 5 stages of a clinical assessment

History
Pedigree
Clinical examination (individual and family)
Genetic tests
Synthesis

2

What kind of genetic tests can be conducted

Microarray
Gene tests (mutation, single gene screen, gene panel)

3

What should also be offered to patients

Genetic counselling

4

Who can give genetic counselling

Clinical geneticist
Genetic counsellor
Hospital doctor
GP
Nurse

5

What type of mutation does cystic fibrosis have

A single mutation in one gene

6

What are the advantages of next-generation sequencing

Wet labs costs fall by
over 50%
Time taken to interpret sequence data reduced

7

What are the disadvantages of next-generation sequencing

Interpretation of variants takes just as long and needs skilled scientist
Confirmation of results still required

8

What is the criteria for FH testing

Simon Broome positive families
Referrals accepted from consultant lipidologists and geneticists