Table 1 Italian data: incidence and direct costs of the NHS of BRCA mutated population31.

From: A cost-effectiveness analysis of an integrated clinical-radiogenomic screening program for the identification of BRCA 1/2 carriers (e-PROBE study)

Data

Average

Best case

Worst case

 

BRCA1/2PV carriers in gen. pop.

0.67%

0.59%

0.77%

3

Test eligible in pop gen (clinical criteria/family history)

0.98%

0.47%

1.79%

11, ABCFS

Test positivity probability

10.00%

10.00%

10.00%

6,7,11

BRCA1/2PV carriers in not eligible people

0.58%

0.51%

0.68%

3, ABCFS

RRSO and RRM in carriers

25.85%

35.84%

15.30%

25,26,27

RRSO only in carriers

29.15%

28.16%

29.70%

25,26,27

RRM only in carriers

21.15%

20.16%

18.70%

25,26,27

No prophylactic surgery in carriers

23.85%

15.84%

36.30%

25,26,27

Both breast and ovarian cancer risk in carriers

21.50%

14.81%

30.42%

2

Only ovarian cancer risk in carriers

9.00%

8.70%

8.58%

2

Only breast cancer risk in carriers

49.00%

48.20%

47.58%

2

No cancer probability in cancers

20.50%

28.31%

13.42%

2

Post RRM: only breast cancer

4.41%

0.96%

18.08%

5

Post RRM: only ovarian cancer

28.56%

23.20%

27.44%

5

Post RRM: both breast and ovarian cancer

1.94%

0.30%

11.56%

5

Post RRM: no cancer

65.09%

75.54%

42.92%

5

Post RRSO: only breast cancer

34.13%

23.09%

46.75%

4

Post RRSO: only ovarian cancer

0.80%

0.72%

3.85%

4

Post RRSO: both breast and ovarian cancer

0.42%

0.22%

3.95%

4

Post RRSO: no cancer

64.65%

75.97%

45.45%

4

Post RRM and RRSO: only breast cancer

3.49%

0.62%

15.82%

4,5

Post RRM and RRSO: only ovarian cancer

1.18%

0.93%

6.46%

4,5

Post RRM and RRSO: both breast and ovarian cancer

0.04%

0.01%

1.34%

4,5

Post RRM and RRSO: no cancer

95.29%

98.44%

76.38%

4,5

Cost

 Gynaecological visit and gynaecological US

51.65 €

51.65 €

51.65 €

30

 Genetic counselling and genetic testing (6blocks)

1099,48 €

1099.48 €

1099.48 €

30

 RRSO: DRG 359

1436.00 €

1436.00 €

1436.00 €

31

 RRM: DRG 261

1960.00 €

1960.00 €

1960.00 €

31

 Salpingo-Oophorectomy for ovarian K: DRG 357

6791.00 €

6791.00 €

6791.00 €

31

 Mastectomy for breast K: DRG 258–257

3524.45 €

3524.45 €

3524.45 €

31

 Chemotherapy

2226.00 €

2226.00 €

2226.00 €

30

 PARP inhibitor therapy

82,344.00 €

82,344.00 €

82,344.00 €

41

 Radiotherapy

6000.00 €

6000.00 €

6000.00 €

30

 Yearly follow-up BRCA+

198.20 €

198.20 €

198.20 €

24,30

 Yearly follow-up BRCA−/unknown

69.60 €

69.60 €

69.60 €

19,30

 Age of consent: tests

18

18

18

 

 Average age of BRCA+ cancer onset

45

60

35

38,39,40,41

 Average number of years in FU: STEP 1

27

42

17

 

 Average number of years in FU: STEP 2

35

20

45

 

 Total follow up

62

62

62

 

 Model exit age

80

80

80

 

 Expected age of prophylactic surgery

40

45

35

18,39

  1. ABCFS Australian Breast Cancer Family Study.