Figure 1. The ACCE evaluation process for genetic testing – text version
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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)? | |
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Analytic Validity
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| 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
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| 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? | |
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Prevalence
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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? | |
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Clinical Utility
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| 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? | |
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Quality Assurance
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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? | |
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Monitoring
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40. | What methods exist for long term monitoring? |
| 41. | What guidelines have been developed for evaluating program performance? | |
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ELSI
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| 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? |