QUESTIONS AND CORRECT ANSWERS
Discuss the impact of molecular diagnostics in human disease - CORRECT
ANSWER More accurate disease monitoring - allows for early treatment and improved
patient care
Determination of most appropriate treatment
Reduction of patient morbidity and mortality
Able to diagnose and prognosis that patient
*** Example someone might have a HER2 gene amplification but we have a great
medication to use despite the fact that this type of breast cancer is aggressive
Define molecular diagnostics - CORRECT ANSWER - Molecular diagnostics
encompasses the use of molecular biology techniques to expand scientific knowledge of the
natural history of disease
- Can help identify people at risk for acquiring specific diseases and facilitates the diagnosis
of infectious and other human diseases at the nucleic level
- Molecular testing went from being its own thing to being a part of many lab practices
Importance of nucleic acids in the lab - CORRECT ANSWER -Assay exhibit extreme
sensitivity and specificity (which can be controlled)
-Genotype before phenotype
, -Targets can be amplified >10^6 --- assays like a photocopier so we can find the targets we
are interested in
Describe utility of molecular pathology in laboratory medicine - CORRECT
ANSWER - Assays are developed based on the presence of specific molecular markers
-Diagnostic test -- distinguish variations in human disease
- Prognostic tests -- accurately describe the course of disease
- Therapeutic tests -- predict the response to specific therapies and determine if therapy is
effective
List applications for genomic technologies - CORRECT ANSWER Molecular
diagnostics is a universal discipline of laboratory medicine
Genetics - heritable diseases
Oncology - solid tumors
Hematopathology - leukemia and lymphoma
Identity Testing - transplantation and forensics
Infectious disease -
▪Genotyping and drug resistance
▪Quantitative measurements
Future prospects for molecular diagnostics - CORRECT ANSWER novel molecular
markers