Snímek 1 - CzechHTA



Snímek 1 - CzechHTA
Faculty of biomedical engineering
The hereditary syndrome (BRCA1/BRCA2
mutations) causes 5–7 % of diagnosed breast
cancer.[2] In the Czech Republic, patients
suspected of this gene alteration undergo
DNA testing, and the whole family joins
screening programs. They will eventually
become ill with a high probability (predicted
breast cancer risk in women with BRCA1/
BRCA2 mutation being 78–83 % by the age of
70), however, the screening can detect cancer
in earlier stages. The screening program has
run for only 10 years comprising 105 patients,
10 diagnosed with breast cancer. Although the
outcome in these women was better than in
the general population, the cost/QALY ratio
appeared higher for preventive programs.
Due to the lack of clinical data, calculations were repeated
using a cohort of patients generated by the Monte Carlo
method. A fictional cohort of 331 women (164 with BRCA1
and 167 with BRCA2) was generated on the grounds of
published data (see the Table below).[3] This cohort was
used to estimate average cost of the screening program
per one woman (CZK127,504). The treatment costs were
calculated by the micro-costing method from real data.
On February 16, 2013, at the age of 37, Angelina
Jolie underwent a preventive double mastectomy
after learning she had a 87 % risk of developing
breast cancer due to a defective BRCA1 gene. Her
family history warranted genetic testing for BRCA
mutations: her mother, actress Marcheline Bertrand,
had breast cancer and died from ovarian cancer at
the age of 56, while her maternal grandmother had
ovarian cancer and died aged 45. Jolie's
mastectomy lowered her chances of developing
breast cancer to under 5 percent, and testing of the
removed breast tissue showed no signs of
cancerous cells. On April 27, Jolie had
reconstructive surgery
involving implants and
allografts. She reportedly intends to undergo a
preventive oophorectomy, as she still has a 50 %
risk of developing ovarian cancer due to the same
genetic anomaly.
FIGURE: Age of women with BRCA1 and BRCA2 when diagnosed [3]
The costs/QALY ratio
CZK523,065 in general population
CZK788,562 in women from the preventive
(USD1 = CZK20 as of May 2013)
This seems to confirm the pilot results. However, in the
preventive program there are also women after
treatment of (any) malignancy, and women translated
from other clinics. Excluding these cases, the CE ratio
decreases to CZK388,962. Hence, the results might
rather point at ineffective screening programs in regional
mammary centres, where many women are included
unnecessarily, while other suspected women are not
sent to genetic tests to specialized clinics, than speak
about ineffectiveness of the preventive program as such.
"I choose not to keep my story
private because there are many
women who do not know that
they might be living under the
shadow of cancer. It is my hope
that they, too, will be able to get
gene tested, and that if they
have a high risk they, too, will
know that they have strong
Age distribution in women when entering the screening
program, and distribution of diagnosed breast carcinom in women with
BRCA1 mutation [clinic´s databasis, [16], own calculation].
[1] "My Medical Choice". The New York Times, 14 May 2013.
[2] Balmaña, J.,et al.: BRCA in breast cancer: ESMO Clinical Practice Guidelines,
Annals of Oncology, Suppl. 6, Vol. 22 (September 2011), pp. 31–34.
[3] Klijn, J.G.M., Meijers-Heijboer, H.: Gene screening and prevention of hereditary breast cancer: a clinical view, EJC Supplements, No. 1, Vol. 1 (2003),
pp. 13-23.
This study was funded by the grant from the Ministry
of Health of the Czech Republic No. NT/11532-5
“Hodnocení zdravotnických prostředků”.
Corresponding author: [email protected]

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