Current/Future

Question 1

Targets of clinical sequencing.

Answer 1

Single genes
Gene panel
Exome
Whole genome
Cancer genome (compare tumor vs somatic)
Family (compare sequences)

Question 2

What is expression profiling?

Answer 2

Test used to assess RNA levels based on expression profiles that are associated with specified outcome measures

Question 3

How is expression profiling interpreted?

Answer 3

Gene function, regardless of underlying mutations

Question 4

Challenges associated with clinical sequencing

Answer 4

Data management and storage
Accuracy (depth of coverage)
Interpretation of risk
Validation of variants

Question 5

How are results of clinical sequencing determined?

Answer 5

Comparing the targeted genetic material to the reference sequences

Differences are analyzed according to the potential phenotypic effects

Question 6

What can expression profiling predict?

Answer 6

Risk of mets, appropriate erapy, likely benefits of therapy and prognosis

Question 7

Patients with a _____ recurrence score (expression profiling) are more likely to benefit form chemo

Answer 7

High

Question 8

In terms of treatment, what form of therapy is becoming more emphasized?

Answer 8

Targeted and personalized therapy, with the aid of personalized diagnostics

Question 9

A therapeutic tool that depends on the use of an in vitro diagnostic test for its safe and effective use

Answer 9

In vitro companion diagnostic device

Question 10

What is an example of a companion diagnostic?

Answer 10

BRAF V600E Roche mutation test and Vemurafenib

Question 11

What does Vemurafenib do?

Answer 11

Used to treat patients with unresectable or metastatic melanoma with BRAF V600 E
Inhibits mutated BRAF protein

Question 12

What are challenges associated with companion diagnostics?

Answer 12

Heterogeneity may not be detected by the FDA approved test (for example, the BRAF V600K not detected

Pleoitropy (the same biomarker is present in multiple phenotypes–melanoma, papillary thyroid carcinoma, etc)

Question 13

Companion diagnostics is a type of (direct/indirect) testing

Answer 13

Direct

Question 14

Genetic assessment assessment to provide risk assessment, diagnosis or drug response, usually offered by web based companies

Answer 14

Direct to consumer testing

Question 15

Four barriers between personalized genomic diagnostics and clinical implementation

Answer 15

Educational guidelines and recommendations
Costs and reimbursement
Validity/utility
Regulation (FDA)

Question 16

ACCE model for evaluating genetic tests

Answer 16

Analytic validity (accuracy of test)
Clinical validity (ability of test to predict outcome)
Clinical utility (ability of test to improve outcomes)***
Ethical/social/legal issues

Question 17

T/F: All genetic tests are FDA approved

Answer 17

F–most aren’t

Question 18

Allows simultaneous sequencing of many different DNA sequences

Answer 18

Genomic sequences

Question 19

3 types of genome sequencing

Answer 19

Next generation
Whole genome
Exome

Question 20

RNA-based approach to testing

Answer 20

Expression profiling

Question 21

Genetic tests linked to specific therapies

Answer 21

Companion diagnostics