Technology

Question 1

What is precison medicine?

Answer 1

Specialised treatment tailored to indiviual genetics

Biomarker guided indivualised treatment

Question 2

Why is precision medicine important

Answer 2

• Better patient care today
• Increased potential for today’s research to enhance tomorrow’s patient care

Question 3

Relationship of precision medicine and research diagram

Answer 3

Lecture Slide

Question 4

Histopathology
- used to?

Answer 4

• Can identify numerous cell and tissue feature that are informative about health and disease
• Tissue and cell morphology as well as fine details
• Pattern recognition
• Diagnosis, prognosis, direction of treatment

Question 5

Immunochemistry
-used to?

Answer 5

• Can identify specific proteins in/on cells
• Identifies the state of cells
• Identifies cell type
• Identifies potential treatments

Question 6

Type of method for DNA sequencing older and newer versions

Answer 6

Sanger Sequencing (older) and Next Generation Sequencing (newer)

Question 7

Process of Next Generation Sequencing

Answer 7

Genomic DNA
Cut DNA
Add linkers
Input library
Flow cell
In situ PCR
Sequencing

Question 8

Genome vs exome

Answer 8

Whole Genome is all the genetic material and exome is a slice of that genome.

Question 9

Scenario: sequencing the KRAS gene to guide targeted therapy

Example: KRAS mutation testing for cetuximab in metastatic colorectal cancer

• KRAS is activated by? what does it cause?
• What is used to prevent KRAS

Answer 9

Epidermal growth Factor acts on EGFR causing KRAS activation leading to enhanced proliferation and survvial of cells

Cetuximab stops EGF binding to EGFR and thus reducing proliferation and survival

Question 10

What happens if there is a mutation of KRAS gene
-type of cancer is related to

Answer 10

Epithelial ovarian cancer

If there is a mutation of KRAS gene, this means it is no longer reliant on EGF binding to EGFR causing activation. THEREFORE KRAS doesnt need EGFR activation to cause
cell proliferation, so the drug (Cetuximab) has no effect leading to enhanced proliferation and survival

Question 11

AI in medicine
- examples
-why isnt it used more

Answer 11

1. Cancer detection using gigapixal
2. AI on reading Xrays

• Technological limitations remain but can be overcome
• Our incomplete molecular understanding of disease is now the major limitation to realising the value of research using genomics and bioinformatics
• Technology is waiting for our scientific understanding to catch up – ongoing research is key
• Untneable Inequity