Medical Genetics in the Clinic

Question 1

<p>What do most genetic referals related to?</p>

Answer 1

<p>Cancer, and then cardiac</p>

Question 2

<p>What does the clinical assessment in a genetics clinic involve?</p>

Answer 2

<p>History</p>

<p>Pedigree</p>

<p>Clinical examination</p>

<p>Genetics test</p>

<p>Synthesis</p>

Question 3

<p>What are examples of genetic tests?</p>

Answer 3

<p>Microarray</p>

<p>Gene tests such as mutations, single gene screen, gene panel</p>

Question 4

<p>What is a microarray?</p>

Answer 4

<p>Set of DNA sequences representing the entire set of genes of an organism</p>

Question 5

<p>What does genetic counselling let patients known about?</p>

Answer 5

<p>Risks of passing on disorders</p>

Question 6

<p>What is involved in genetic counselling?</p>

Answer 6

<p>Clinical geneticist</p>

<p>Genetic counsellor</p>

<p>Hospital doctor</p>

<p>GP</p>

<p>Nurse</p>

Question 7

<p>What has happened to the molecular genetics workload over the last 20 years?</p>

Answer 7

<p>Drastically increased</p>

Question 8

<p>What technology has made genetics easier?</p>

Answer 8

<p>Automated sequencing</p>

Question 9

<p>What are advantages of automated sequencing?</p>

Answer 9

<p>Costs have fallen</p>

<p>Time taken to interpret data has reduced</p>

Question 10

<p>What are disadvantages of automated sequencing?</p>

Answer 10

<p>Interpretation of variants needs skilled scientists</p>

<p>Confirmation of results is still required</p>

Question 11

<p>How can we decide if a sequence variant is disease causing?</p>

Answer 11

<p>In silico prediction of variant impact</p>

<p>Massive international online databases</p>

Question 12

<p>What does in silico mean?</p>

Answer 12

<p>On a computer</p>

Question 13

<p>What are some questions that helps in silico predictions decide if a sequence variant is disease causing?</p>

Answer 13

<p>Does the amino acid change</p>

<p>Is the amino acid of different charge</p>

<p>Stop codon or splicing</p>

<p>Reported before associated with disease</p>

Question 14

<p>What are the gene variant classifications?</p>

Answer 14

<p>Class 5 (pathogenic)</p>

<p>Class 4 (likely pathogenic)</p>

<p>Class 3 (variant of uncertain significance)</p>

<p>Class 2 (likely benign)</p>

<p>Class 1 (benign)</p>

<p></p>

Question 15

<p>What happens with the more sequencing that you do?</p>

Answer 15

<p>The more variants you find</p>

<p>More false positives</p>

Question 16

<p>What has happened to the cost of sequencing the genome over the last 20 years?</p>

Answer 16

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

Question 17

<p>What was the human genome project?</p>

Answer 17

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

Question 18

<p>What is increasingly becoming more a part of mainstream care?</p>

Answer 18

<p>Genetics</p>