Although there had been a steady uptick in tests performed for the breast and ovarian cancer-causing mutations BRCA1 and BRCA2, mutational testing for other familial forms of cancer have not gained significant traction—with only a third of relatives of individuals known to have either the BRCA or the Lynch syndrome MMR mutation undergoing genetic testing, according to a study presented at the European Society of Human Genetics’ annual meeting (Paris; June 8-11). The researchers analyzed data from the French National Cancer Institute (2003 to 2011). Based on 240,134 consultations over the eight-year study, the researchers found a significant and steady increase in genetic tests performed for the BRCA1/2 genes—an increase from 2,095 to 7,393 tests per year. The increase in testing for the MMR genes (from 1,144 to 1,635 per year) was not significant. In families with an individual identified with a BRCA1/2 or a MMR mutation, there was an average of three relatives who underwent testing. “Given that such testing can provide many options to enable individuals to manage their cancer risk, it is vital to encourage awareness and acceptance among both the public and medical professionals,” said the study’s lead author, Pascal Pujol, M.D., from Montpellier University Hospital […]
Although there had been a steady uptick in tests performed for the breast and ovarian cancer-causing mutations BRCA1 and BRCA2, mutational testing for other familial forms of cancer have not gained significant traction—with only a third of relatives of individuals known to have either the BRCA or the Lynch syndrome MMR mutation undergoing genetic testing, according to a study presented at the European Society of Human Genetics’ annual meeting (Paris; June 8-11).
The researchers analyzed data from the French National Cancer Institute (2003 to 2011). Based on 240,134 consultations over the eight-year study, the researchers found a significant and steady increase in genetic tests performed for the BRCA1/2 genes—an increase from 2,095 to 7,393 tests per year. The increase in testing for the MMR genes (from 1,144 to 1,635 per year) was not significant. In families with an individual identified with a BRCA1/2 or a MMR mutation, there was an average of three relatives who underwent testing.
“Given that such testing can provide many options to enable individuals to manage their cancer risk, it is vital to encourage awareness and acceptance among both the public and medical professionals,” said the study’s lead author, Pascal Pujol, M.D., from Montpellier University Hospital in France. “We believe that our findings would be likely to be replicated in many other countries across the world. . . . We urgently need a major program of awareness among all those concerned, involving medical education and training, information programs for patients and their families, public health campaigning, and improved genetic counseling.”
For more information on how clinician awareness influences adoption of molecular testing, please see the Special Focussection beginning on page 8.
