The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil

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

Agency (philosophy) · Biology · Breast cancer · Cancer · Colorectal cancer · DNA mismatch repair · Family medicine · Genetic counseling · Genetic testing · Gynecology · Hereditary Cancer · Lawsuit · MLH1 · Political science · Test (biology) · BRCA gene mutations in cancer · Colorectal Cancer Screening and Detection · Genetic factors in colorectal cancer · Genetics · Internal Medicine · Law · Medicine

• DNA sequencing with chain-terminating inhibitors

  Open Access•Frederick Sanger, S Nicklen et al.•Proceedings of the National…•1977

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