Medical Genetics in the Clinic Flashcards
What do most genetic referals related to?
Cancer, and then cardiac
What does the clinical assessment in a genetics clinic involve?
History
Pedigree
Clinical examination
Genetics test
Synthesis
What are examples of genetic tests?
Microarray
Gene tests such as mutations, single gene screen, gene panel
What is a microarray?
Set of DNA sequences representing the entire set of genes of an organism
What does genetic counselling let patients known about?
Risks of passing on disorders
What is involved in genetic counselling?
Clinical geneticist
Genetic counsellor
Hospital doctor
GP
Nurse
What has happened to the molecular genetics workload over the last 20 years?
Drastically increased
What technology has made genetics easier?
Automated sequencing
What are advantages of automated sequencing?
Costs have fallen
Time taken to interpret data has reduced
What are disadvantages of automated sequencing?
Interpretation of variants needs skilled scientists
Confirmation of results is still required
How can we decide if a sequence variant is disease causing?
In silico prediction of variant impact
Massive international online databases
What does in silico mean?
On a computer
What are some questions that helps in silico predictions decide if a sequence variant is disease causing?
Does the amino acid change
Is the amino acid of different charge
Stop codon or splicing
Reported before associated with disease
What are the gene variant classifications?
Class 5 (pathogenic)
Class 4 (likely pathogenic)
Class 3 (variant of uncertain significance)
Class 2 (likely benign)
Class 1 (benign)
What happens with the more sequencing that you do?
The more variants you find
More false positives
