Figure 1. The ACCE evaluation process for genetic testing - text version

The ACCE evaluation process for genetic testing – text version
Element Component
Disorder/Setting
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Specific Question
1. What is the specific clinical disorder to be studied?
2. What are the clinical findings defining this disorder?
3. What is the clinical setting in which the test is to be performed?
4. What DNA test(s) are associated with this disorder?
5. Are preliminary screening questions employed?
6. Is it a stand-alone test or is it one of a series of tests?
7. 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
8. Is the test qualitative or quantitative?
Sensitivity 9. How often is the test positive when a mutation is present?
Specificity 10. How often is the test negative when a mutation is not present?
11. Is an internal QC program defined and externally monitored?
12. Have repeated measurements been made on specimens?
13. What is the within- and between-laboratory precision?
14. If appropriate, how is confirmatory testing performed to resolve false positive results in a timely manner?
15. What range of patient specimens have been tested?
16. How often does the test fail to give a useable result?
17. How similar are results obtained in multiple laboratories using the same, or different technology?
Clinical Validity
Sensitivity 18. How often is the test positive when the disorder is present?
Specificity 19. How often is the test negative when a disorder is not present?
20. Are there methods to resolve clinical false positive results in a timely manner?
Prevalence
21. What is the prevalence of the disorder in this setting?
22. Has the test been adequately validated on all populations to which it may be offered?
23. What are the positive and negative predictive values?
24. What are the genotype/phenotype relationships?
25. What are the genetic, environmental or other modifiers?
Clinical Utility
Intervention 26. What is the natural history of the disorder?
Intervention 27. What is the impact of a positive (or negative) test on patient care?
Intervention 28. If applicable, are diagnostic tests available?
Intervention 29. Is there an effective remedy, acceptable action, or other measurable benefit?
Intervention 30. Is there general access to that remedy or action?
31. Is the test being offered to a socially vulnerable population?
Quality Assurance
32. What quality assurance measures are in place?
Pilot Trials 33. What are the results of pilot trials?
Health Risks 34. What health risks can be identified for follow-up testing and/or intervention?
35. What are the financial costs associated with testing?
Economic 36. What are the economic benefits associated with actions resulting from testing?
Facilities 37. What facilities/personnel are available or easily put in place?
Education 38. What educational materials have been developed and validated and which of these are available?
39. Are there informed consent requirements?
Monitoring
40. What methods exist for long term monitoring?
41. What guidelines have been developed for evaluating program performance?
ELSI
Impediments 42. What is known about stigmatization, discrimination, privacy/confidentiality and personal/family social issues?
43. Are there legal issues regarding consent, ownership of data and/or samples, patents, licensing, proprietary testing, obligation to disclose, or reporting requirements?
Safeguards 44. What safeguards have been described and are these safeguards in place and effective?
Page last reviewed: June 15, 2009