Genetics in Clinical Practice Flashcards
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
