Current/Future Flashcards

1
Q

Targets of clinical sequencing.

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

What is expression profiling?

A

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

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3
Q

How is expression profiling interpreted?

A

Gene function, regardless of underlying mutations

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4
Q

Challenges associated with clinical sequencing

A

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

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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

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6
Q

What can expression profiling predict?

A

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

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7
Q

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

A

High

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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

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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

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10
Q

What is an example of a companion diagnostic?

A

BRAF V600E Roche mutation test and Vemurafenib

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11
Q

What does Vemurafenib do?

A

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

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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)

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13
Q

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

A

Direct

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14
Q

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

A

Direct to consumer testing

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15
Q

Four barriers between personalized genomic diagnostics and clinical implementation

A

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

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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