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According to a study by researchers at Stanford University School of Medicine and several other organizations, less than a quarter of patients with bad cancer and one-third of patients with cancer Ovarian diagnosed between 2013 and 2014 in two states underwent a genetic screening test for mutations badociated with cancer.
The results indicate that there are significant gaps between national guidelines for testing and actual testing practices. The results show that too few women with ovarian cancer are screened for mutations that could be used to guide health care decisions.
The study involved approximately 83,000 women in whom bad or ovarian cancer had been diagnosed in California and Georgia in 2013 and 2014.
"We launched this study – the largest population study on multigene testing in bad and ovarian cancer patients – because we wanted to know what cancer genetic tests and their results in cancer looked like. the real world, "said Allison Kurian, MD, MSc. , badociate professor of medicine and health research and policy at Stanford. "We can now see that the number of women with ovarian cancer is greatly reduced.We have also learned that between 8 and 15% of women with bad cancer or ovarian carried mutations badociated with cancer that could be used to guide care decisions and influence the health care of family members and filtering choices. "
Kurian is the author of the study, which will be published online on April 9 in the newspaper Journal of Clinical Oncology, with Kevin Ward, PhD, MPH, badistant professor of epidemiology at Emory University. Lynne Penberthy, MD, MPH, Associate Director of the National Cancer Institute's Surveillance Research Program, and Steven Katz, MD, MPH, Professor of Medicine and Health Management and Policy at the National Cancer Institute. University of Michigan, are the main authors.
Change the guidelines
Researchers have known for decades that inherited mutations or variations in certain genes, including BRCA1 and BRCA2, increase the risk of developing bad or ovarian cancer. Genetic testing for mutations in BRCA1 and BRCA2 has been available for several years. But since 2013, genetic testing has incorporated many more potential genes for cancer susceptibility and the results have become much more complicated.
"The integration of counseling and genetic testing into cancer management after diagnosis has become much more difficult for patients and their clinicians," Katz said.
National guidelines recommend that all women with the most common type of ovarian cancer be screened for mutations badociated with cancer; the guidelines for testing patients with bad cancer were less expensive. Although guidelines for genetic testing have expanded to include more patients in whom bad or ovarian cancer has been diagnosed, as well as for more extensive multigene panel tests, it has not been widely reported. It has not been clearly determined to what extent these recommendations are followed under actual clinical conditions. In addition, the prevalence of known mutations badociated with cancer in bad or ovarian cancer patients belonging to a racial or ethnic minority, as well as in the general population, is unknown.
For this study, the researchers exploited the National Cancer Institute's surveillance, epidemiology, and end-point program, which tracks cancer diagnoses and outcomes in large populations in the United States. They combined cancer case data from California and Georgia with data from four laboratories performing the majority of cancer genetic tests between 2013 and 2014. They found that only 24.1% of the 77,085 women who received a diagnosis of bad cancer and 30.9% of the 6,001 people with ovarian cancer had cancer. any genetic test.
Disparities in genetic tests
The researchers also observed disparities in the tests, especially in patients with ovarian cancer. Although nearly 34% of non-Hispanic white women were tested, only about 22% of black women and 24% of Hispanic women were tested. Income and insurance status have played a role in the prevalence of screening among women with ovarian cancer of all racial and ethnic groups, the researchers found. About 20% of Medicare patients were tested, compared to about 34% of patients with other forms of health insurance. The prevalence of testing has decreased by about 20% in areas where residential poverty was equal to or greater than 20%, compared to about 38% in areas with a poverty level of less than 10%.
The researchers found that, among women with bad cancer and having performed tests on a set of genes designated in the guidelines, the prevalence of mutation variants of unknown significance was much higher among minority patients: 28.5%, 26.6% and 19.3% American, Asian and Hispanic patients, respectively, compared to 14.5% among non-Hispanic whites. The prevalence of pathogenic variants also varied along racial and ethnic lines.
"These differences highlight the need to improve the clarity of genetic test results, especially for racial or ethnic minority patients," Kurian said.
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Researchers from Information Management Services Inc. and the University of Southern California, as well as other researchers from the National Cancer Institute, also contributed to the work.
The research was funded by the National Institutes of Health (grants P01CA163233 and R01CA225697), the California Department of Public Health, the Centers for Disease Prevention and Control, and the Greater California Cancer Registry.
Stanford's departments of medicine and research and health policy also supported the work.
The Stanford University School of Medicine consistently ranks among the top medical schools in the country, integrating research, medical education, patient care and community services. For more information about the school, visit http: // med.
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