Snímek 1 - CzechHTA
Transcription
Snímek 1 - CzechHTA
CZECH TECHNICAL UNIVERSITY Faculty of biomedical engineering METHODS: BACKGROUND: 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] RESULTS AND DISCUSSION: The costs/QALY ratio CZK523,065 in general population CZK788,562 in women from the preventive program (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. BRCA1/BRCA2 "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 options."[1] TABLE: 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]. PRINCIPAL REFERENCES: [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]