Element |
Component |
Specific Question |
Disorder/Setting |
|
- What is the specific clinical disorder to be studied?
- What are the clinical findings defining this disorder?
- What is the clinical setting in which the test is to be performed?
- What DNA test(s) are associated with this disorder?
- Are preliminary screening questions employed?
- Is it a stand-alone test or is it one of a series of tests?
- If it is part of a series of screening tests, are all tests performed in all instances (parallel) or are only some tests performed on the basis of other results (series)?
|
Analytic Validity |
|
- Is the test qualitative or quantitative?
|
Sensitivity
|
- How often is the test positive when a mutation is present?
|
Specificity
|
- How often is the test negative when a mutation is not present?
|
|
- Is an internal QC program defined and externally monitored?
- Have repeated measurements been made on specimens?
- What is the within- and between-laboratory precision?
- If appropriate, how is confirmatory testing performed to resolve false positive results in a timely manner?
- What range of patient specimens have been tested?
- How often does the test fail to give a useable result?
- How similar are results obtained in multiple laboratories using the same, or different technology?
|
Clinical Validity |
Sensitivity
|
- How often is the test positive when the disorder is present?
|
Specificity
|
- How often is the test negative when a disorder is not present?
|
|
- Are there methods to resolve clinical false positive results in a timely manner?
|
Prevalence
|
- What is the prevalence of the disorder in this setting?
|
|
- Has the test been adequately validated on all populations to which it may be offered?
- What are the positive and negative predictive values?
- What are the genotype/phenotype relationships?
- What are the genetic, environmental or other modifiers?
|
Clinical Utility |
Intervention
|
- What is the natural history of the disorder?
|
Intervention
|
- What is the impact of a positive (or negative) test on patient care?
|
Intervention
|
- If applicable, are diagnostic tests available?
|
Intervention
|
- Is there an effective remedy, acceptable action, or other measurable benefit?
|
Intervention
|
- Is there general access to that remedy or action?
|
|
- Is the test being offered to a socially vulnerable population?
|
Quality Assurance
|
- What quality assurance measures are in place?
|
Pilot Trials
|
- What are the results of pilot trials?
|
Health Risks
|
- What health risks can be identified for follow-up testing and/or intervention?
|
|
- What are the financial costs associated with testing?
|
Economic
|
- What are the economic benefits associated with actions resulting from testing?
|
Facilities
|
- What facilities/personnel are available or easily put in place?
|
Education
|
- What educational materials have been developed and validated and which of these are available?
|
|
- Are there informed consent requirements?
|
Monitoring
|
- What methods exist for long term monitoring?
|
|
- What guidelines have been developed for evaluating program performance?
|
ELSI |
Impediments
|
- What is known about stigmatization, discrimination, privacy/confidentiality and personal/family social issues?
|
|
- Are there legal issues regarding consent, ownership of data and/or samples, patents, licensing, proprietary testing, obligation to disclose, or reporting requirements?
|
Safeguards
|
- What safeguards have been described and are these safeguards in place and effective?
|