PGX (Genetic Testing)

Question 1

Inherited Testing

Answer 1

Genetic Testing Strategy (Targeting)
- When we know the exact familial variant
- When one or more variant common with disease / population
- Covered by insurance

Question 2

Tumour Testing

Answer 2

Genetic Testing Strategy (Targeting)

Diagnostic

Prognosis

Treatment

Question 3

Testing Strategies

Answer 3

Inherited Testing
- Family Inheritance
- Targets Specific Variants
Tumour Testing
- Diagnosis, Prognosis, Treatment

Question 4

Single Gene Sequencing
- Methods

Answer 4

• Sanger Sequencing
• Multiple Next Generation Sequencing

Question 5

Single Gene Sequencing
- How it Works

Answer 5

Determines the order of the nucleotides

Compares patient sequence to a reference sequence
- Locates single nucleotide changes

Question 6

Single Gene Sequencing
- When to use it

Answer 6

Family Mutation is unknown

One gene is likely to be associated with condition than other genes

Question 7

Single Gene Sequencing
- When not to use it

Answer 7

Family mutation is known (Use target Analysis)

Multiple genes are likely for the condition (Use a Panel)

Question 8

Deletion/Duplication Analysis (CNV Analysis)
- How it works

Answer 8

Molecular probes with florescent tags attach to specific DNA sequences

Compares Patient sequence to Reference sequence

Density of florescent tags show how many times DNA sequence is repeated/deleted

Question 9

Deletion/Duplication Analysis (CNV Analysis)
- When to use

Answer 9

Deletions/Duplication accompany the condition
(Spinal Muscular Atrophy)

Gene Sequencing is negative, however, there is high possibility of genetic involvement

Question 10

Deletion/Duplication Analysis (CNV Analysis)
- When not to use

Answer 10

Family Mutation is known and is not related CNV (Use Targeted Analysis)

More than one hereditary syndrome involved (Use a Panel)

Question 11

Targeted Mutation Analysis

Answer 11

AKA:
- Mutation Probe
- Mutation Panel

Molecular Probes attach to a specific string of nucleotides associated with a specific disease

Question 12

Targeted Mutation Analysis
- When to use?

Answer 12

Family Mutation is Known

One or a few specific variants are more common in a specific population

Question 13

Targeted Mutation Analysis
- When not to use?

Answer 13

Family Mutation is Unknown (No Target, use full gene sequencing / multi panel)

More than one hereditary syndrome (Use a Panel)

More than one single gene (Use a Panel)

Question 14

Multi-Gene Panels

Answer 14

AKA
- Next Generation Sequencing (NGS)

Captures multiple genes to be sequenced simultaneously

Compares patient sequence to reference sequence

Detects single base nucleotide changes and sometimes CNV

Question 15

Multi-Gene Panels
- When to use

Answer 15

Family Mutation Unknown

Multiple Candidate Genes Involved (Rather than just one)

More than one hereditary syndrome suggested

Question 16

Multi-Gene Panels
- When not to use

Answer 16

Family mutation is known (Use target analysis)

When one gene is more likely than another (Use target analysis)

Question 17

Whole Genome Sequencing

Answer 17

Analyzes coding, regulatory regions, and regions of unknown function

Question 18

Whole Exome Sequencing

Answer 18

Analyzes only the protein coding portion of the genome

Question 19

Whole Genome / Exome Sequencing
- When to use it

Answer 19

When all other tests have no success and hereditary factors are strongly suspected

When more than one family member are available for testing

Question 20

Thalassemia

Answer 20

Inherited diseases of blood affecting a persons ability to produce hemoglobin
- Anemia

Question 21

Cystic Fibrosis

Answer 21

Body makes sticky mucus that:
- Clog lungs
- Leads to infection
- Blocks pancreas, meaning digestive enzymes do not reach intestine