Table 1 General characteristics of economic evaluation studies in genetic testing programs

1

Manchanda, 2020 [17]

UK/USA/Netherlands/China/Brazil/ India

BC/OC

Women > = 30 years old

Payer and social

Population-based BRCA testing compared with FH based testing.

CEA

Markov model

3

Lifetime

One way-PSA

From a societal perspective ICER for UK, USA, Netherlands, China, Brazil, and India were $-5639, $-4018, $-11,433, $18,066, $13,579, and $23,031 per QALY, respectively.

From a payer perspective ICER for UK, USA, Netherlands, China, Brazil, and India were $21,191, $16,552, $25,215, $23,485, $20,995, and $32,217 per QALY, respectively.

The population based BRCA testing for high as well as upper-middle income countries was cost-effective but it was not cost-effective in low-middle income countries in both payer and social perspective.

2

Correa-Galendi, 2020 [23]

Brazil

BC/OC

Healthy but high risk women > = 30 years old

Health system

FH based BRCA testing compared with no testing

CEA

Markov model

5

Lifetime

(extending to the age of 70 years old)

PSA

ICER = US$21,724 per QALY and US$24,405 per LYG.

BRCA tests were recommended for Brazilian women but further research is needed.

3

Sun, 2019 [32]

UK, US

BC

11,836 unselected patients with BC

Payer and social

BRCA1/BRCA2/PALB2 testing for all cases with BC compared with current BRCA testing based on clinical criteria or FH alone.

CEA

Markov model

3.5

Lifetime (extending to the age of 80 years old)

One-way, PSA

Payer perspective:

£10,464/QALY and $65,661/QALY for UK and US, respectively. Societal perspective £7216/QALY and $61,618/QALY for UK and US, respectively.

Multigene testing for all unselected patients with BC as well as subsequent predictive/cascade testing of relatives compared with FH testing was extremely cost-effective for UK and US.

4

Müller, 2019 [24]

German

BC/OC

A number of 4380 women(> = 35-year-old) with a BRCA 1/2 mutation

The German statutory health insurance

Genetic BRCA 1/2 testing for high risk women compared with no testing

CEA

Decision tree & Markov model

3

Lifetime

(extending to the age of 65 years old)

PSA

€17,027 per QALY; €22,318 per LYG

The genetic BRCA testing to high-risk women that have a FH of cancer was cost-effective.

5

Manchanda, 2018 [9]

US, UK

BC/OC

All Jewish women > = 30

Payer

Two strategies were considered:

1- The standard clinical criteria/FH-based BRCA testing compared with panel testing for BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2

2- population testing for BRCA compared with RAD51C/RAD51D/BRIP1/PALB2 mutations

CEA

Decision tree

3.5

Lifetime

One-way, PSA

For UK:

£7629.65 for the first strategy, £21,599.96 for the second strategy

For US: $49,282.19/QALY for the first strategy, $54,769.78/QALY for the second strategy

Population-based multigene testing (BRCA/RAD51C/RAD51D/BRIP1/PALB2) compared with current policy (FH based testing) was the most cost-effective strategy.

6

Norum, 2018 [33]

Norway

BC

535 women with BC

Health care and social perspective

The traditional FH approach compared with testing all patients with BC

CEA

Decision tree

3

Lifetime

(extending to the age of 70 years old)

Univariate

Health care perspective: €40,503/LYG

Societal perspective: €5669/LYG

BRCA testing for all patients with BC compared with FH strategy was cost-effective.

7

Tuffaha, 2018 [25]

Australia

BC

Affected women with BC > =30

Payer

BRCA testing for affected women compared with no testing

CEA

Decision tree & Markov model

5

Lifetime (until the age of 90)

One-way, PSA

$18,900 per QALY

BRCA testing in affected women was cost-effective compared with no testing

8

Lim, 2018 [35]

Malaysia

BC

A number of 1000 early stage patient, with BC (age = 40) in a hypothetical situation

Health system

BRCA testing for BC patients compared with no testing

CEA

Decision tree & Markov model

3

Lifetime

One-way, PSA

US$2725/QALY

BRCA mutation testing was cost-effective for BC patients and it is worthwhile to reimburse the test for high-risk cases to manage the treatment.

9

Patel, 2018 [22]

US, UK

BC/OC

Sephardi Jewish women (> = 30)

for population based

and those with 10% mutation risk for FH test

Payer

Population-based BRCA1 testing, compared with FH testing as the current practice of clinical criteria

CEA

Markov model

3.5

Lifetime

(up to 83 and 82

years for UK and US populations, respectively)

One-way, PSA

£67.04/QALY and $308.42/QALY for UK and US people, respectively.

Population-based BRCA1 testing was highly cost-effective than clinical criteria FH testing

10

Manchanda, 2017 [16]

US, UK

BC/OC

Women (> = 30)

with 1 to 4 Ashkenazi –Jewish grandparents

Payer

BRCA test for AJ founder mutations were compared with

FH-based clinical criteria

CEA

Decision tree

3.5

Lifetime horizon (up to 83 years old)

PSA

For UK:

£ -2960, £- 2327, £ -1254 and £ 863/ QALY for 4, 3, 2 and 1 AJ grandparents, respectively.

For U.S:

$-19,587, $-16,788, $-12,013 and $-2542 / QALY for 4, 3, 2 and 1 AJ grandparents, respectively.

Population BRCA testing was cost-effective for US and UK with varying levels of AJ ancestry.

11

Manchanda, 2015 [21]

UK

BC/OC

Ashkenazi –Jewish women (> = 30) for population based

and those with 10% mutation risk for FH test

NA

Population-based BRCA testing compared with FH testing

CEA

Markov model

3.5

Lifetime

One-way, PSA

£ -2079/QALY

Population-based BRCA compared with FH testing was cost-effective.

12

Holland, 2009 [34]

USA

BC

High risk women (35-year-old) with an associated FH of cancer or concerned about having the gene mutation.

Societal perspective

FH testing compared with no testing

CEA

Semi-Markov model

3

Lifetime (extending to the age of 70 years old)

On- way, PSA

$ 9 /QALY

Although the FH test was cost-effective, the results were most sensitive to utility after BRCA mutation and the discount rate. So, the further research was needed for the reliability of the results.