Precision medicine and the future

Question 1

What is non-invasive prenatal testing?

Answer 1

A blood test performed on pregnant mother looking for free foetal DNA. Used to look for aneuploidy and for sex determination when there is a known sex-linked condition in the family

Question 2

What is non-invasive prenatal diagnosis?

Answer 2

A blood test performed on pregnant mother looking for free foetal DNA. Used to look for single gene disorders e.g. CF.

Question 3

What is exome sequencing and what’s it used for?

Answer 3

Next generation sequencing looking at whole exome.

Can be used for selection of medication to increase efficacy and reduce side effects; treatments tailored to specific disease causing mutations.

Question 4

What medication is used to treat CF?

Answer 4

Ivacaftor.

Re-opens the chloride channel which is blocked by G551D mutation.

Question 5

What are biomarkers?

Answer 5

Molecules/genes etc. which reflect the state of a disease e.g. if a certain receptor is present.
Allow drugs to be targeted against certain defects.

Question 6

What EGFR inhibitors are available for NSCLC?

Answer 6

Erlotinib, gefitinib

Question 7

What HER2 inhibitors are available for breast cancer?

Answer 7

Trastuzumab (Herceptin)

Question 8

What 2 possible therapies are available for DMD?

Answer 8

1. Exon skipping. Convert to BMD phenotype by altering splicing patterns with antisense oligonucleotides.
2. Drug therapy. Ataluren or PTC124 to allow premature stop codons to be ignored.

Question 9

What is CRIPSR?

Answer 9

A method of correcting mutations by using a guide RNA to find a target sequence.

Question 10

What conditions has CRISPR been used in?

Answer 10

B thalassaemia (converting G to A)

Marfan syndrome

Compare blood and tumour DNA to locate specific driver mutations.