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Flashcards in advantages and disadvantages of diagnostic techniques Deck (15)
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1
Q

genetic variation data

A

correlates the presence of genetic variations e.g. SNPs with the risk of developing certain diseases

2
Q

advantages of genetic variation data

A
  • early diagnosis- better prognosis
  • may change the way that people live their lives
  • could make treatment cheaper if found earlier
3
Q

disadvantages of genetic variation data

A
  • expensive so would have to be used as a secondary screen
  • too expensive to test everyone
  • often cant do anything with info
4
Q

negative of GWAS

A

need to know what all genes do to be able to have an idea of the effect SNPs have

5
Q

VOCs

A

organic compounds found in breath, poo, urine, sweat

6
Q

advantages of VOC

A
  • quick
  • cheap
  • non-invasive
7
Q

disadvantages of VOC

A
  • immobile equipment
  • expensive
  • may need an expert to interpret data
  • pre-cons of VOC may be necessary
8
Q

discovery of cffDNA (cell free DNA) has enabled

A

safer, earlier testing based on simple maternal blood sample

9
Q

what is used along side cffDNA

A

NGS-widescreen detection of fatal aneuploidy

10
Q

process of cfDNA

A

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

11
Q

what is compared in detection of trisomy

A

using NGS tells us how many copies of DNA

    • fetal DNA will be diff to maternal
  • compare ratios of dna of fetus’’ to mothers
12
Q

disadvantages of NIPS (non invasive prenatal screening)

A
  • expensive and time consuming

- so only higher risk patients

13
Q

advantages of NIPS

A
  • less invasive - no risk of miscarriage (4%)

- specific

14
Q

imaging advantages

A
  • diagnostic
  • gives parameters- so can help clarify stages of the disease
  • help decide treatment
15
Q

disadvantage of imaging

A

-expensive
-need expert
time consuming