Dados do Trabalho

Título

A PILOT STUDY OF COST EFFECTIVENESS FAMILY SEGREGATION OF BRCA1 GERMLINE PATHOGENIC VARIANTS IN THE BRAZILIAN NATIONAL HEALTH SYSTEM (SUS): AN INTERIM ANALYSIS.

Introdução

The identification of women with a hereditary predisposition to breast and ovarian cancer from the segregation of the presence of a familial known pathogenic variant in BRCA1 is a strategy that allows the recognition of ovarian cancer's high-risk women, which may provide risk-reducing salpingo-oophorectomy, reducing the risk of cancer of the peritoneum, fallopian tubes and ovaries from around 71 to 96%.

Objetivo

The objective of this pilot study is to evaluate the cost-effectiveness of family segregation of genetic pathogenic variants for BRCA1 in families with hereditary predisposition to breast and ovarian cancer in the Brazilian National Health System (SUS).

Métodos

It will be calculated the treatment's cost of Pernambuco's Hereditary Cancer Program's women diagnosed with ovarian cancer and a germline pathogenic variant in BRCA1; the cost of the genetic test for women in the family; the possible cost in the treatment of malignant neoplasms diagnosed in these women, calculating the penetrance of ovarian cancer in this specific population, comparing the cost with the genetic tests and the risk-reducing surgeries.

Resultados

An interim analysis reveals that the media of the treatment's cost of women diagnosed with ovarian cancer and a germline pathogenic variant in BRCA1 was R$ 52286,7; The cost with the genetic tests and the risk-reducing surgeries were R$ 285 and R$ 975,4, respectively. These risk reduction strategy could avoid the cost of R$ 40478,71 for every prevented ovarian cancer.

Conclusões

The primary anaysis should be considered a cost-effectiveness of family segregation of genetic pathogenic variants for BRCA1 in Pernambuco's families with hereditary predisposition to breast and ovarian cancer in the Brazilian National Health System (SUS).

Palavras-chave

Genetic Predisposition to Disease , Hereditary Breast and Ovarian Cancer Syndrome , Unified Health System.

Financiador do resumo

FACEPE - Fundação de Amparo a Ciência e Tecnologia do Estado de Pernambuco