case unit 6 - diagnostics Flashcards

1
Q

what does specificity test

A

how many people are healthy

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2
Q

what does sensitivity test

A

how many people actually have the disease

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3
Q

if the sensitivity is 84%

A

then 84% of people with the disease will be correctly tested as +ve

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4
Q

if the specificity is 53%

A

then 53% of healthy people will be correctly tested -ve

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5
Q

importance of a good diagnosis

A

correct and appropriate therapy can be prescribed
better prognosis
early detection

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6
Q

reasons why a diagnosis would be made

A

if a sick person visits the doctor
if an ‘at risk’ population gets screened
- clinical referral and subsequent tests may follow this

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7
Q

what types of measurements may be taken in a diagnosis

A
symptoms e.g. spots, fever
physiology e.g. temp, bp
blood-borne e.g. blood hormone/glucose levels 
biopsy-based e.g. cancer antigens
other e.g. questionnaire, voc
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8
Q

what are VOCs

A

volative organic compounds

metabolic by-product of the disease present in swear, breath, urine, poo

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9
Q

disadvantage of measuring VOCs

A

each measurement could represent a combination of substances

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10
Q

why are VOCs a good diagnostic measure

A

non-invasive
quick
cheap

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11
Q

what is the diagnostic cut-off

A

vertical line between those that test +ve and -ve on rgpah

anyone above the cut off line has the disease
anyone below is healthy

overlap in the distributions gives false results

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12
Q

types of imaging used in diagnosis

A

x-rays
histology
karyotyping

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13
Q

disadvantages of imaging as a diagnostic tool

A

expensive
subjective
requires expert consultation
invasive - often used as an end diagnosis

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14
Q

use of automated diagnosis

A

e.g. detection of melanomas
AI used to recognise malignant moles from photo analysis
consultant standard
t-SNE visualtion used to detect different carcinomas

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15
Q

use of DNA as a biomarker if they think you have the disease

A

use PCR

sequence candidate genes for monogenic diseases

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16
Q

use of DNA as a biomarker if they are unsure whether you have the disease or not

A

test your cell free (cfDNA) for SNPs

17
Q

use of cfDNA in cancer

A
DNA is released into your blood 
e..g ctDNA (circulating tumour)
purify cfDNA
amplify the target genes (those that are commonly mutated in cancers e.g. p53, Ras)
sequence target regions
18
Q

advantages of using cfDNA

A

non-invasive

like a liquid biopsy

19
Q

disadvantages of using ctDNA

A

often low presence of ctDNA in blood

different ctDNA characteristics among patients

20
Q

what are micro-vesicles

A

membrane fragments released into the blood

21
Q

what is the new trisomy screen

A

NIPS - Non-invasive pre-natal screen
mothers blood sample also contains foetal DNA
cf-DNA tested
next gen sequencing used

22
Q

advantages of the new trisomy screen (NIPS)

A

more sensitive and more specific test

23
Q

diagnosis of mental capabiltiy

A

hard
classification of behavioural tests (think trump test)
DSM-5

24
Q

what is DSM-5

A

diagnostic and statistical manual of mental disorders