10.15.18 Population Screening

Question 1

Testing done in an individual who either has or is suspected of having a particular disorder because of clinical symptoms

Answer 1

Diagnostic Test

Question 2

Population-based method for identifying persons with condition or predisposition to a condition; may inflect healthcare on apparently healthy individuals

Answer 2

Screening test

Question 3

What is the Criteria Required for Screening Tests?

Answer 3

1. Disease must cause substantial burden or suffering
2. Common
3. Pre-symptomatic phase
4. Treatment works better in presymptomatic phase
5. Tests accurately in presymptomatic phase
6. Test must not cause more harm than the benefit from treating the disease early

Question 4

What are the benefits to Tandem Mass Spectroscopy?

Answer 4

1. Multiple compounds in complex mixtures
2. Small sample requirement
3. Rapid analysis

Question 5

Which disorders can be detected by tandem mass spectroscopy?

Answer 5

1. Aminoacidopathies
2. Organic acidemias
3. Fatty acid oxidation disorders

Question 6

When are you more likely to get false positives than true positives?

Answer 6

When prevalence is low

Question 7

What are limitations to newborn screening

Answer 7

1. Doesn’t include all congenital conditions
2. Not diagnostic
3. Clinical deterioration before notification of results
4. Some may not be screened or have delayed screening

Question 8

When should carrier screening be done?

Answer 8

1. High carrier pop
2. High sens/spec
3. Cost-effective
4. Access to genetic counseling
5. Prenatal diagnosis available
6. Acceptance and voluntary participation