Genetic screening to detect mutations that can predispose women to the development of breast or ovarian cancer has available since the mid-1990s. However, more than 80 percent of women at risk for these malignancies have not taken the test or discussed it with their physician or healthcare provider, a new study says.
The study “National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer” was published in the Journal of Clinical Oncology.
In the United States, about 15 percent of ovarian and breast cancers cases are caused by heritable genetic mutations, including those affecting the BRCA1 and BRCA2 genes.
Because these patients are at risk of developing a second cancer, and their relatives also might have higher chances of getting cancer if they share the same mutations, it is important that they undergo genetic testing. Early identification of these risk factors is critical for treatment decisions and preventive care.
“Many of these women have inherited genetic changes that put them and their family members at risk for future cancers,” Christopher Childers, MD, first author of the study, said in a press release. Childers is resident physician in the department of surgery at the David Geffen School of Medicine at UCLA.
“Identifying a mutation is often important for surgical decision-making and cancer therapy, but its importance extends further than that. If individuals are aware that they have these mutations, they can take steps to lower their future cancer risk,” Childers said.
Aiming to determine how many patients at risk for these mutations have not been tested, researchers at the UCLA Fielding School of Public Health analyzed pooled data from the 2005, 2010, and 2015 National Health Interview Surveys, which are administered by the Centers for Disease Control and Prevention.
To determine women for whom the genetic test would be more beneficial, the team used the National Cancer Center Network (NCCN)’s guidelines for managing care for cancer patients. Women who had had ovarian cancer, or women who had breast cancer at a younger age, or had a mother, sister or daughter who had breast or ovarian cancer, were those for whom a genetic test would be recommended.
Among the 47,218 women included in the surveys, 2.7 percent had had breast cancer. Among them, only 29 percent discussed the genetic test with their healthcare provider, and 20.2 percent were advised to be tested; but only 15.3 percent actually took the test.
For the 0.4 percent who had had ovarian cancer, 15.1 percent had discussed the matter with a physician or healthcare provider, and 13.1 percent were advised to undergo genetic testing. But only 10.5 percent were actually tested.
These numbers show that less than one in five women with a history of breast or ovarian cancer who met the NCCN criteria undergo genetic testing.
“Many women are not receiving vital information that can aid with cancer prevention and early detection for them and their family,” said co-author Kimberly Childers, genetic counselor and regional manager of the Providence Health and Services Southern California’s clinical genetics and genomics program. “Thus, we have identified an incredible unmet need for genetic testing across the country.”
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