IASM 52: Precision Medicine

Question 1

What is the gene mutation that leads to inflammatory bowel disease

Answer 1

XIAP gene

Question 2

‘Direct to consumer testing’ are directly sold to consumers with ___________

Answer 2

Consultation
(Just read the following parts):
- Consumer order test from testing company
- Company gives the testing kit to individual
- The DNA sample from swab sent to company
- Test results sent from company to consumer

Question 3

______mutation will not pass to offspring

______mutation will pass to offspring

Answer 3

somatic mutation will not pass to offspring

germline mutation will pass to offspring

Question 4

Name a targeted therapy in cancer

Treat Chronic Myeloid Leukemia: ______ (IM) block ________ fusion gene

Answer 4

Name a targeted therapy in cancer

Treat Chronic Myeloid Leukemia: Imatinib (IM) block BCR/ABL fusion gene

Question 5

What is the purpose of evaluation of genetic testing

Answer 5

To distinguish tests that are accurate, useful and safe from those that are not

Question 6

Genetic Testing Evaluation Framework (ACCE)
Name the components
A
C
C
E

Answer 6

Analytical Validity
accuracy and reliability for assay to measure or detect the genotype

Clinical Validity
ability of the test to distinguish those with disorder and those without

Clinical Utility
the potential benefit of the test, relation with patient management and the availability of alternative diagnostic procedures

Ethical, legal and social implications
potential harm related to testing results

Question 7

Some potential Ethical issues related to genetic testing (Just read)

• Autonomy: Confidentiality? Any pre-test counselling and preparedness for potential findings?
• Beneficence/ Non-maleficence: Genetic determinism (Need better genes to a specific school? Discrimination) and Data Ownership problem
• Justice: Health Inequality

Question 8

Which of the following are structured data and which are unstructured data? (Electronic Health Record)

Structured data: Need to have standardized terminology
Structured data also need accessible data components

Prescription
Diagnosis
Personal details
Clinical and radiology notes
Medical images

Answer 8

Structured:

• Prescription
• Diagnosis
• Personal details

Unstructured:

• Clinical and radiology notes
• Medical images

Question 9

What is the meaning of:

• Capability of machine to imitate intelligent human behaviour
• Approach to enable relationships or pattern to be extracted from data without explicit programming of pre-defined algorithm

Answer 9

What is the meaning of:

• Capability of machine to imitate intelligent human behaviour: Artificial Intelligence
• Approach to enable relationships or pattern to be extracted from data without explicit programming of pre-defined algorithm: Machine Learning

Question 10

Compare Supervised learning VS Unsupervised learning

• Labelled data required?
• Clustering required?

Answer 10

Supervised learning VS Unsupervised learning

• Labelled data VS Unlabelled data
• No clustering VS Yes clustering

Question 11

Name a few ethical concerns of AI

• Autonomy
• Beneficence
• Non-maleficence
• Justice

Answer 11

Name a few ethical concerns of AI

• Autonomy: Confidentiality/ Informed Consent/ Can they withdraw data?
• Beneficence: Improved clinical care
• Non-maleficence: Data breaches and cyber attacks
• Justice: Responsibility/ Accountability (No AI specific regulation)