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Table 2 Responsiveness of PROMs of parents or patients with different rare diseases by perceived value of diagnostic genomic sequencing

From: QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia

 

Value of genomic sequencing in providing information

Value in maximizing chance to improve health

 

Among those who found value in this aspect

Among those who did not found value

Among those who found value in this aspect

Among those who did not found value

Changes in PROs

N

Mean

SD

p-value

SRM

N

Mean

SD

p-value

SRM

N

Mean

SD

p-value

SRM

N

Mean

SD

p-value

SRM

NDs (parents)

 SF-6D

44

-0.03

0.12

0.08

-0.27a

13

-0.04

0.13

0.23

-0.35a

          

 SF-12 PCS

44

-2.18

10.66

0.18

-0.20a

13

-2.24

8.25

0.35

-0.27a

          

 SF-12 MCS

44

0.73

13.27

0.72

0.05

13

-5.26

14.63

0.22

-0.36a

          

GKDs (parents)

 SF-6D

17

-0.01

0.10

0.77

-0.07

2

0.00

0.06

0.95

0.05

18

-0.01

0.10

0.69

-0.10

1

0.05

NA

NA

NA

 SF-12 PCS

17

-0.74

7.23

0.68

-0.10

2

1.61

5.74

0.76

0.28a

18

-0.84

7.03

0.62

-0.12

1

5.66

NA

NA

NA

 SF-12 MCS

17

-0.81

9.57

0.73

-0.09

2

0.22

5.70

0.96

0.04

18

-0.98

9.31

0.66

-0.11

1

4.25

NA

NA

NA

GKDs (adult patients)

 SF-6D

55

-0.01

0.09

0.42

-0.11

12

-0.01

0.10

0.80

-0.08

55

-0.01

0.09

0.29

-0.14

12

0.00

0.12

0.93

0.03

 SF-12 PCS

54

0.24

8.61

0.84

0.03

12

2.32

6.93

0.27

0.33a

54

1.44

7.71

0.18

0.19

12

-3.06

10.20

0.32

-0.30

 SF-12 MCS

54

-0.73

7.95

0.50

-0.09

12

-0.78

9.97

0.79

-0.08

54

-1.69

7.63

0.11

-0.22a

12

3.52

9.97

0.25

0.35a

CNDs (adult patients)

EQ-5D-5L

                    

  utility score

37

-0.01

0.15

0.76

-0.05

17

0.01

0.12

0.70

0.09

42

0.01

0.15

0.78

0.04

12

-0.03

0.07

0.39

-0.43a

 EQ VAS score

35

-0.02

0.19

0.46

-0.13

17

0.03

0.14

0.45

0.19

40

0

0.19

0.98

0

12

-0.04

0.13

0.39

-0.26a

DASS

                    

 Depression

30

0.21

1.55

0.78

0.14

15

-0.33

0.65

0.1

-0.51b

33

0.04

1.47

0.42

0.03

12

0

0.89

1

0.00

 Anxiety

30

0.29

1.26

0.32

0.23a

15

-0.03

0.99

0.98

-0.03

33

0.24

1.25

0.43

0.19

12

0.04

0.97

0.64

0.04

 Stress

30

0.04

1.22

0.98

0.03

15

0.2

0.52

0.11

0.38a

33

0.03

1.16

1

0.03

12

0.27

0.61

0.12

0.44a

Neuro QoL

                    

 PAW

35

-1.12

5.42

0.23

-0.21a

15

-0.19

4.79

0.88

-0.04

39

-1.18

5.28

0.17

-0.22a

11

0.35

5.01

0.82

0.07

Dilated cardiomyopathy (adult patients)

 AQoL-8D

17

0

0.1

0.88

0.04

11

0.02

0.11

0.54

0.19

23

0.01

0.09

0.48

0.15

5

0

0.16

0.97

-0.02

 Physical

17

-0.02

0.11

0.46

-0.18

11

0.04

0.16

0.4

0.26a

23

0.01

0.13

0.58

0.12

5

-0.05

0.16

0.53

-0.30a

 Psychosocial

17

0

0.1

0.86

0.04

11

0.01

0.09

0.68

0.13

23

0

0.09

0.81

0.05

5

0.02

0.11

0.72

0.17

  1. Note: PROMs: patient-reported outcome measures; ND: neurodevelopmental disorders; GKD: genetic kidney diseases; CNDs: complex neurological disorders; DCM: dilated cardiomyopathy. For ND parents, GKD parents and GKD adults, a higher SF-6D score, SF-12 Physical Component Scores (PCS) and SF-12 Mental Component Scores (MCS) indicate better health. t-test was used to assess the mean change in SF-6D score, SF-12 PCS score and SF-12 MCS score. For adult CND patients, a higher EQ-5D utility score and EQ VAS score indicates better health. We rescaled EQ VAS score to a 0–1 scale; DASS scale score was converted to z-score to enable comparison between DASS scale scores. We rescaled the DASS scores so that higher z-score indicates better health state (i.e. the rescale score = 0- original z-score). A higher Neuro-QoL T-score represents more of the concept being measured. t-tests was used to assess the mean change in EQ-5D utility score, EQ VAS score and NeuroQoL score and Wilcoxon’s test was used to assess the mean change in DASS score. For adult DCM patients, a higher AQoL utility score and the two component scores indicate better health. t-test was used to assess the mean change in AQoL utility score.
  2. The values of 0.2, 0.5 and 0.8 represent the cut-off points for small (a), moderate (b), and large (c) standardised response mean (SRM) effect sizes
  3. *, **, *** denote significance at the 10, 5, and 1% level, respectively
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Health and Quality of Life Outcomes

ISSN: 1477-7525

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