Genes: Clinical Practice

Question 1

What methods are initially used to assess genetics?

Answer 1

• Drawing a family tree
• Listen to patients, take their history and address their needs
• Clinical examination: them or family members
• Genetic test: microarray, gene tests: mutation/single gene screen/genepanel
• Synthesis

Question 2

Sequence automation

Answer 2

• A computer interprets if there is a mutation: difficulty in assessing if this is clinically significant or not

Question 3

Next-generation sequencing

Answer 3

+ Wet labs cost fall >50%
+ Time taken to interpret sequence data reduced
- Interpretation of variants takes just as long, need a skilled scientist
- Confirmation of result still required

Question 4

Variants of uncertain significance

Answer 4

i.e. whether genetic mutations actually bear any significance

Question 5

Genetics and cancer

Answer 5

You can use technology to establish if someone is on the correct meds and if certain meds can improve their survival chances