A recent Wall Street Journal article described a family’s story with genetic testing, which included a very rare event: a reinterpretation of genetic test results from “likely harmful” to “uncertain.” The situation described in the article has raised concerns for some individuals with BRCA1 or BRCA2 mutations. Because multiple members of this story had undergone preventative surgery based on the information known at the time of testing, the “reclassification” of the genetic information had significant implications and, as the story detailed, led to great distress.
The most important thing that the Basser Center would like you to know is that it is extremely rare that genetic testing reports change an interpretation from harmful to anything less than that. If you have been told that you have a BRCA1 or BRCA2 mutation, it is exceedingly unlikely that anything has changed.
Although there are thousands of different types of BRCA1 and BRCA2 mutations, some mutations are seen very frequently and researchers know a lot about them. For example, the three mutations commonly seen in individuals of Ashkenazi Jewish ancestry have been observed so frequently that researchers have been able to specifically estimate cancer risk about each of these mutations. There is a deep base of knowledge that informs the way in which families and individuals with these mutations are counseled about their options for cancer prevention. There will never be reinterpretation of these specific mutations and the many others like it.
In the rare event that the interpretation of any genetic testing results changes, the health care provider who ordered your test is notified. Therefore, it is important that your health care provider knows your current contact information. If you have any questions at any time, you can reach out to the individual who ordered your test.
Decisions about timing of preventive surgery and different options are very personal, and we recommend that all individuals who are considering preventative surgery discuss their results in detail with a genetics professional.