Genetics in Clinical Practice Flashcards Preview

Principles of Disease > Genetics in Clinical Practice > Flashcards

Flashcards in Genetics in Clinical Practice Deck (8)
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1
Q

What are the 5 stages of a clinical assessment

A
History
Pedigree
Clinical examination (individual and family)
Genetic tests
Synthesis
2
Q

What kind of genetic tests can be conducted

A
Microarray
Gene tests (mutation, single gene screen, gene panel)
3
Q

What should also be offered to patients

A

Genetic counselling

4
Q

Who can give genetic counselling

A
Clinical geneticist
Genetic counsellor
Hospital doctor
GP
Nurse
5
Q

What type of mutation does cystic fibrosis have

A

A single mutation in one gene

6
Q

What are the advantages of next-generation sequencing

A

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

7
Q

What are the disadvantages of next-generation sequencing

A

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

8
Q

What is the criteria for FH testing

A

Simon Broome positive families

Referrals accepted from consultant lipidologists and geneticists