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Revista de Saúde Pública

Print version ISSN 0034-8910On-line version ISSN 1518-8787


LAJUS, Tirzah Braz Petta. The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil. Rev. Saúde Pública [online]. 2015, vol.49, 71.  Epub Oct 13, 2015. ISSN 1518-8787.

The Brazilian National Regulatory Agency for Private Health Insurance and Plans has recently published a technical note defining the criteria for the coverage of genetic testing to diagnose hereditary cancer. In this study we show the case of a patient with a breast lesion and an extensive history of cancer referred to a private service of genetic counseling. The patient met both criteria for hereditary breast and colorectal cancer syndrome screening. Her private insurance denied coverage for genetic testing because she lacks current or previous cancer diagnosis. After she appealed by lawsuit, the court was favorable and the test was performed using next-generation sequencing. A deletion of MLH1 exon 8 was found. We highlight the importance to offer genetic testing using multigene analysis for noncancer patients.

Keywords : Supplemental Health; Health Maintenance Organizations; Private Health Care Coverage; Genetic Testing; Genetic Predisposition to Disease; Neoplasms, diagnosis.

        · abstract in Portuguese     · text in English     · English ( pdf )