Lecture 7 - Testing Technology Pt1 Flashcards

1
Q

What are the different drug labels?

A
  • One gene-multiple drugs
  • One drug-multiple genes
  • One gene-multiple alleles
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2
Q

Who performs pgx tests?

A

CLIA certified labs

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3
Q

What is the Clinical Laboratory Improvement Amendments of 1988?

A

US federal regulatory standards that apply to all clinical laboratory testing performed on humans in US, except clinical trials and basic research

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4
Q

What are CLIA labs allowed to use?

A

FDA approved platform/technology to perform the pgx test

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5
Q

Where can someone find a CLIA lab for a specific test?

A

GTR: genetic testing registry

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6
Q

What are the specifics of collecting enough info of a prescription of a pgx test?

A
  • Work closely with therapeutic team
  • Discuss w the pt
  • Understand FDA labeling/CPIC guidelines
  • Know principle of tech
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7
Q

What are the specifics of making an informed decision in prescription of a pgx test?

A
  • Strength of pgx info v other factors
  • Cost v benefit
  • Selection of tech
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8
Q

Why is it important to know the strength and limitations of different methods for pgx test?

A

A targeted test focusing on major alleles could be cheaper and quicker, but may miss other rare important alleles

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9
Q

What are important factors to be considered?

A
  • Family hx
  • Race and ethnicity
  • Vulnerable populations
  • Consent/assent
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10
Q

What is the samples for pgx testing?

A
  • DNA
  • Any nucleated cells/tissue contains germline DNA
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11
Q

What are the principles for collecting a DNA sample for pgx testing?

A
  • Easy to collect
  • Avoid contamination
  • Less invasive
  • Availability of standard procedure
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12
Q

What is peripheral blood?

A

White blood cells: DNA

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13
Q

What is the standard collecting amount of peripheral blood?

A

2-6 ml

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14
Q

What is the preferred tube to collect peripheral blood?

A

EDTA-anticoagulant tube (purple top)

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15
Q

What technique must be used to collect peripheral blood and why?

A

Use sterile technique to prevent bacterial contamination

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16
Q

What temp and delivery method should be used to deliver peripheral blood sample?

A

Room temp and same day/overnight delivery (1-2 day)

17
Q

What are the advantages of using peripheral blood?

A
  • Good and stable yield of DNA
  • Less contamination vs other DNA sources
  • Standard handling procedure
  • Most commonly used medical sample
18
Q

What are the limitations of using peripheral blood?

A
  • Invasive
  • Requires more professional collection and handling
  • Pay attention to special patients (ex. bone marrow transplantation patients will have different DNA)
19
Q

What is collected from a cheek swab/brush?

A

Buccaneers epithelial cells

20
Q

What are advantages of the cheek swab/brush?

A
  • Easy to collect
  • Noninvasive
  • Room temp handling
21
Q

What are disadvantages of cheek swab/brush?

A
  • Less DNA yield than blood: 1-5 microgram but enough for many types of assays
  • DNA yield is variable by patient
  • Possibly contaminated
22
Q

What is collected from tissue collection?

A

Tumor:
Fresh biopsy:
- High yield of DNA
- Snap frozen in liquid N2 (-80C for long term storage and dry ice for transportation)
Formalin Fixed and paraffin embedded (FFPE):
- DNA is usually degraded
- However, many detections are still doable

23
Q

What is the first FDA approved tissue sample test?

A

FoundationOneCDx

24
Q

How stable is DNA and when?

A

DNA is very stable, especially pure and dried (RNA is less table)

25
Q

What are the factors that affect DNA quality?

A
  • pH (neutral), avoid oxidants, UV
  • Repeated freezing and thawing
  • Bacterial contamination
  • 4C for short term storage (1-2 minutes)
  • -80C for long term storage (years)
  • Aliquot into small volume if possible