Case Unit 6: Diagnostics Flashcards

1
Q

What is the specificity of a diagnostic test?

A

The probability that someone without the disease will test negative

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2
Q

How is specificity calculated

A

(True Negatives)/(True Negatives + False positives)

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3
Q

What is the sensitivity of a diagnostic test?

A

The probability that someone with the disease will test positive

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4
Q

How is sensitivity calculated

A

(True Positives)/(True Positives + False negatives)

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5
Q

What is positive predictive value?

A

Proportion of positive results that are true positives

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6
Q

How is positive predictive value calculated?

A

(Number of people with disease who test positive)/(Total number who test positive)

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7
Q

What is negative predictive value?

A

Proportion of negative results that are true negatives

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8
Q

How is negative predictive value calculated?

A

(Number of people without disease who test negative)/(Total number who test negative)

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9
Q

What is the difference between a diagnosis and a screen?

A

Diagnosis when there are symptoms

At-risk populations can be screened even when presenting no symptoms

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10
Q

What is a diagnostic cut-off?

A

A value from a diagnostic test that anything above indicates disease and anything below indicates the patient is healthy.

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11
Q

What are VOCs?

A

Volatile Organic Compounds

Metabolic products produced by people with disease, not produced by those without

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12
Q

Advantages and limitations of using VOCs as a diagnostic markers?

A

Quick to test, cheap to test, non-invasive

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13
Q

What are the types of imaging diagnostic tools?

A

X-Rays
Histology - looking at biopsies
Karyotyping

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14
Q

Advantages and limitations of imaging as a diagnostic tool?

A

Invasive - may require biopsy
Expensive
Subjectivity of the person who is viewing it

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15
Q

How can DNA be used as a biomarker?

A

Gene sequencing
Cell free DNA
SNPs

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16
Q

Advantages and limitations of DNA as a diagnostic biomarker?

A

Non-invasive (liquid biopsy)

Can test for many genes at once

17
Q

What is cell free DNA?

A

DNA circulating in blood
Released from necrosing cells, damaged cells, tumour cells
Sampled using liquid biopsy

18
Q

How is cell free DNA analysed?

A

Take liquid biopsy
Purify cell free DNA
Use PCR to amplify genes that are commonly mutated in cancer

19
Q

Advantages and limitations of using genetic variation as a diagnostic biomarker?

A

SNPs can indicate risk of developing a condition

Useful flag for indicating increased risk of disease

20
Q

What is DNA sequencing?

A

Determining the order of nucleotides in a DNA molecule

  • Used to detect mutations/test for a genetic disease
  • Analyse products of RNA seq to determine level of gene expression