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Debosmita Ghosh • 21 Jul 2024
Study Finds Several Breast Cancer Survivors Miss Out On Crucial Genetic Screening
Several Breast Cancer Survivors Miss Out On Crucial Genetic Screening
A recent study found that several breast cancer patients aren’t getting genetic counselling and testing that can help them receive the most effective treatment. The study was published in the Journal of Clinical Oncology and conducted by researchers from the University of Michigan.
The study found that only three-quarters of patients eligible for genetic testing after their breast cancer diagnosis received genetic counselling and testing. Also, just over half of breast cancer survivors eligible for testing during follow-up care received a genetic screening, according to a report in the U.S.News.
Dr. Steven Katz, lead researcher and a professor of internal medicine and of health management and policy at the University of Michigan said, “Our findings support a rapidly growing movement to simplify clinical guidelines to increase access to genetic testing and clinical impact of the results after diagnosis and into survivorship.”
Genes, the molecular architects of our existence, play an important role in determining our risks of cancer. Certain genetic mutations can significantly elevate the risk of developing specific types of cancer. These mutations can be inherited from our parents, creating a familial link to the disease. In these cases, the presence of a mutated gene may act as a proverbial loaded gun, increasing the likelihood of cancer.
There are genetic mutations that can increase the risk of breast cancer in a woman. Mutations in the BRCA1 and BRCA2 genes are responsible for substantially raising the risk of these cancers. Individuals inheriting these mutations face a higher-than-average probability of developing breast at some point in their lives. Treatments have been developed for these.
Genetic testing can also help in treatment as well as as well as follow-up care and screening, said the researchers. The results can also be used to warn other family members of potential increased risk for cancer.
The researchers analysed more than 1,400 women for the study at seven months and at six years after they were diagnosed with early-stage breast cancer. The researchers found that many women aren’t getting the gene testing for which they’re eligible, both at diagnosis and following treatment.
Lauren Wallner, senior researcher and an associate professor of internal medicine and epidemiology at Michigan, in a university news release, said, “Genetic risk evaluation and testing can fall through the cracks during survivorship as patients’ needs for ongoing treatments, managing the side effects of treatments and monitoring for recurrence or progression grow.”
At the same time, about a third of patients for whom genetic testing wouldn’t be recommended got it anyway, results showed. The researchers said that there was some good news, among those who got testing, nearly two-thirds who had a genetic variant reached out to family members to talk about their results.
The study also found that few people are interested in direct-to-consumer genetic tests, which are not as sophisticated as genetic testing and counselling at hospitals and clinics, researchers said.