Table 2 Evaluation components and methodological aspects considered in the retrieved evaluation frameworks

From: How is genetic testing evaluated? A systematic review of the literature

 

N (29)

%

Reference

Evaluation components

 Overview disease/test under study

25

86

[7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22, 24, 25, 27, 29,30,31,32,33,34, 36,37,38,39,40,41,42]

 Analytic validity

27

93

[7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28, 30,31,32,33,34, 36,37,38,39,40,41,42]

 Clinical validity

28

96

[7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28, 30,31,32,33,34,35,36,37,38,39,40,41,42]

 Clinical utility

29

100

[7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42]

 Ethical, legal, and social implications

22

76

[7,8,9,10,11,12,13,14,15, 20,21,22, 25,26,27,28,29, 32,33,34,35,36,37,38,39,40, 42]

 Delivery models

8

27

[13, 24, 29, 30, 34–38]

 Organizational aspects

15

52

[7,8,9,10, 13, 14, 24,25,26,27,28,29,30, 32, 34,35,36,37,38]

 Economic evaluationa

29

100

[7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42]

 Patient/citizen’s point of viewb

2

7

[15, 33]

Methodological aspects

 Format

 Key questions

12

41

[7, 11,12,13,14,15, 20,21,22,23, 32, 41, 42]

 Card

5

17

[8,9,10, 16,17,18,19, 24, 25]

 Checklist

2

7

[30, 38]

 Set of principle/methodological guidance

10

34

[26,27,28,29, 31, 33,34,35,36,37, 39, 40]

Evidence collection and evaluation

 Source of evidencec

13

45

[7, 11,12,13,14,15, 21, 22, 25, 30, 31, 33, 39, 42]

 Quality of the evidenced

12

41

[11,12,13,14, 21, 22, 25, 30, 31, 33, 35, 39, 42]

 Evidence gaps/research priorities

12

41

[7, 11, 12, 14, 21, 23, 25, 28, 31, 34, 38, 40, 42]

 Recommendations

5

17

[11, 12, 21, 28, 32, 42]

  1. Note: where it was unclear whether an evaluation component was present, it was considered missing and the methodological aspect unfulfilled
  2. aEconomic evaluation: the evaluation component was considered as present in the evaluation framework even if only a cost-analysis, and not a complete economic evaluation, was mentioned
  3. bPatient/citizen’s point of view: the evaluation component was counted only if a direct reference to patient consultation was made
  4. cSource of evidence: the methodological aspect was considered fulfilled even if the topic of the source of evidence was given only a brief mention without further details
  5. dEvaluation of quality of the evidence: the methodological aspect was considered fulfilled even if the topic of the quality of evidence was only mentioned briefly without details of the criteria used to assess the quality
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