Studies have found that genetic testing is beneficial for all breast cancer patients

In a joint study by Invitae Corporation and Mayo Clinic, many people breast cancer Patients do not undergo genetic testing, so they miss the benefits, such as the possibility of expanding treatment options.

The study, called Intercept, was presented at the 2020 San Antonio Breast Cancer Symposium in December.

Over a two-year period, the researchers provided genetic testing to 3,000 patients with different types of cancer.Researchers have discovered the following:

• One in eight breast cancer patients has a genetic variation that increases the risk of more aggressive diseases such as triple-negative breast cancer.
• Almost one-third of cancer patients in this study changed their cancer treatment based on the genetic variation revealed by the test.
• Half of patients with genetic variation were not eligible for genetic testing using current guidelines.

“For patients, knowing about genetic risk factors can help them choose a prognosis and treatment because it may indicate that they are more likely to face more progressive or bilateral disease. . ” Robert Nussbaum, MD, Invitae’s Chief Medical Officer speaks to Verywell. “Patients may want to consider Surgical prophylaxis options And it has the potential to be a candidate for specific targeted cancer treatments. ”

Nussbaum says the benefits of genetic testing extend to the families of breast cancer patients. “For her family, the test can identify other families that she may be. High risk of cancer We need to monitor it more closely, “he says.

Despite the benefits, studies (including the INTERCEPT study) have shown that genetic testing utilization remains low in breast cancer patients. For example Journal of Clinical Oncology It was found that only 8% of breast cancer patients were offered genetic testing.

What is the reason for the underutilization? “In the past, costs were a barrier, but this has been primarily addressed by both improved reimbursement and reduced costs from test providers,” says Nussbaum. Who can benefit from the test? ”

“Genetic testing guidelines are very complex and depend on the type of cancer diagnosed.” Niloy Jewel (Jewel) J. Samadder, MDThe director of the Mayo Clinic High-Risk Cancer Clinic in Arizona told Very Well. “These criteria have been shown in our and other studies to be insensitive to excluding the presence of a genetic cause of cancer.”

According to Samada, guidelines have already been put in place to support genetic testing in patients with ovarian or pancreatic cancer. However, the same level of adoption does not apply to other types of cancer, including breast cancer.

“Based on the results of interception studies (and other similar studies), the goal should be to provide genetic testing to all patients with a personal history of (any) cancer,” says Samada. “The Mayo Clinic is taking steps to do this. The reality of 2021.”

Despite the Mayo Clinic breakthrough, it remains uncertain whether other medical institutions will follow suit.