Medical Genetics in the Clinic Flashcards Preview

Principles of Disease > Medical Genetics in the Clinic > Flashcards

Flashcards in Medical Genetics in the Clinic Deck (18)
Loading flashcards...
1

What do most genetic referals related to?

Cancer, and then cardiac

2

What does the clinical assessment in a genetics clinic involve?

History

Pedigree

Clinical examination

Genetics test

Synthesis

3

What are examples of genetic tests?

Microarray

Gene tests such as mutations, single gene screen, gene panel

4

What is a microarray?

Set of DNA sequences representing the entire set of genes of an organism

5

What does genetic counselling let patients known about?

Risks of passing on disorders

6

What is involved in genetic counselling?

Clinical geneticist

Genetic counsellor

Hospital doctor

GP

Nurse

7

What has happened to the molecular genetics workload over the last 20 years?

Drastically increased

8

What technology has made genetics easier?

Automated sequencing

9

What are advantages of automated sequencing?

Costs have fallen

Time taken to interpret data has reduced

10

What are disadvantages of automated sequencing?

Interpretation of variants needs skilled scientists

Confirmation of results is still required

11

How can we decide if a sequence variant is disease causing?

In silico prediction of variant impact

Massive international online databases

12

What does in silico mean?

On a computer

13

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

14

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)

 

15

What happens with the more sequencing that you do?

The more variants you find

More false positives

16

What has happened to the cost of sequencing the genome over the last 20 years?

Massively reduced, costing $95,000,000 in 2001 and now costine £850, but the cost of analysis brings the cost to around £5000

17

What was the human genome project?

International scientific research project with the goal of determining the sequence of nucleotide base pairs that make up human DNA

18

What is increasingly becoming more a part of mainstream care?

Genetics