advantages and disadvantages of diagnostic techniques Flashcards
genetic variation data
correlates the presence of genetic variations e.g. SNPs with the risk of developing certain diseases
advantages of genetic variation data
- early diagnosis- better prognosis
- may change the way that people live their lives
- could make treatment cheaper if found earlier
disadvantages of genetic variation data
- expensive so would have to be used as a secondary screen
- too expensive to test everyone
- often cant do anything with info
negative of GWAS
need to know what all genes do to be able to have an idea of the effect SNPs have
VOCs
organic compounds found in breath, poo, urine, sweat
advantages of VOC
- quick
- cheap
- non-invasive
disadvantages of VOC
- immobile equipment
- expensive
- may need an expert to interpret data
- pre-cons of VOC may be necessary
discovery of cffDNA (cell free DNA) has enabled
safer, earlier testing based on simple maternal blood sample
what is used along side cffDNA
NGS-widescreen detection of fatal aneuploidy
process of cfDNA
1) liquid biopsy
2) PCR
3) amplify target gene often mutated in cancer
4) DNA sequencing of target region
-due to dna from cancer cells released in the blood
what is compared in detection of trisomy
using NGS tells us how many copies of DNA
- fetal DNA will be diff to maternal
- compare ratios of dna of fetus’’ to mothers
disadvantages of NIPS (non invasive prenatal screening)
- expensive and time consuming
- so only higher risk patients
advantages of NIPS
- less invasive - no risk of miscarriage (4%)
- specific
imaging advantages
- diagnostic
- gives parameters- so can help clarify stages of the disease
- help decide treatment
disadvantage of imaging
-expensive
-need expert
time consuming
