Genetics in medicine : official journal of the American College of Medical Genetics
-
In May 2013, Angelina Jolie revealed in a New York Times opinion piece that she had undergone a preventive double mastectomy because she had a family history of cancer and carried a rare mutation of the BRCA1 gene. Media coverage has been extensive, but it is not obvious what messages the public took from this personal health story. ⋯ While celebrities can bring heightened awareness to health issues, there is a need for these messages to be accompanied by more purposeful communication efforts to assist the public in understanding and using the complex diagnostic and treatment information that these stories convey.
-
Up to half of unique genetic variants in genomic evaluations of familial cancer risk will be rare variants of uncertain significance. Classification of rare variants will be an ongoing issue as genomic testing becomes more common. ⋯ It is unlikely that most rare missense variants will be classifiable in the near future, and accurate relative risk estimates may never be available for very rare variants. This knowledge may alter strategies for communicating information about variants of uncertain significance to patients.