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Flashcards in Current/Future Deck (21)
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1
Q

Targets of clinical sequencing.

A
Single genes
Gene panel
Exome
Whole genome
Cancer genome (compare tumor vs somatic)
Family (compare sequences)
2
Q

What is expression profiling?

A

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

3
Q

How is expression profiling interpreted?

A

Gene function, regardless of underlying mutations

4
Q

Challenges associated with clinical sequencing

A

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

5
Q

How are results of clinical sequencing determined?

A

Comparing the targeted genetic material to the reference sequences

Differences are analyzed according to the potential phenotypic effects

6
Q

What can expression profiling predict?

A

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

7
Q

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

A

High

8
Q

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

A

Targeted and personalized therapy, with the aid of personalized diagnostics

9
Q

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

A

In vitro companion diagnostic device

10
Q

What is an example of a companion diagnostic?

A

BRAF V600E Roche mutation test and Vemurafenib

11
Q

What does Vemurafenib do?

A

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

12
Q

What are challenges associated with companion diagnostics?

A

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)

13
Q

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

A

Direct

14
Q

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

A

Direct to consumer testing

15
Q

Four barriers between personalized genomic diagnostics and clinical implementation

A

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

16
Q

ACCE model for evaluating genetic tests

A
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
17
Q

T/F: All genetic tests are FDA approved

A

F–most aren’t

18
Q

Allows simultaneous sequencing of many different DNA sequences

A

Genomic sequences

19
Q

3 types of genome sequencing

A

Next generation
Whole genome
Exome

20
Q

RNA-based approach to testing

A

Expression profiling

21
Q

Genetic tests linked to specific therapies

A

Companion diagnostics