Current/Future Flashcards
Targets of clinical sequencing.
Single genes Gene panel Exome Whole genome Cancer genome (compare tumor vs somatic) Family (compare sequences)
What is expression profiling?
Test used to assess RNA levels based on expression profiles that are associated with specified outcome measures
How is expression profiling interpreted?
Gene function, regardless of underlying mutations
Challenges associated with clinical sequencing
Data management and storage
Accuracy (depth of coverage)
Interpretation of risk
Validation of variants
How are results of clinical sequencing determined?
Comparing the targeted genetic material to the reference sequences
Differences are analyzed according to the potential phenotypic effects
What can expression profiling predict?
Risk of mets, appropriate erapy, likely benefits of therapy and prognosis
Patients with a _____ recurrence score (expression profiling) are more likely to benefit form chemo
High
In terms of treatment, what form of therapy is becoming more emphasized?
Targeted and personalized therapy, with the aid of personalized diagnostics
A therapeutic tool that depends on the use of an in vitro diagnostic test for its safe and effective use
In vitro companion diagnostic device
What is an example of a companion diagnostic?
BRAF V600E Roche mutation test and Vemurafenib
What does Vemurafenib do?
Used to treat patients with unresectable or metastatic melanoma with BRAF V600 E
Inhibits mutated BRAF protein
What are challenges associated with companion diagnostics?
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)
Companion diagnostics is a type of (direct/indirect) testing
Direct
Genetic assessment assessment to provide risk assessment, diagnosis or drug response, usually offered by web based companies
Direct to consumer testing
Four barriers between personalized genomic diagnostics and clinical implementation
Educational guidelines and recommendations
Costs and reimbursement
Validity/utility
Regulation (FDA)