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Beyond 'Genes of Interest,' All Genetic Testing Helps Outcomes and Prevention


In recent years, treatment has expanded for mutations that are well-understood in this space.

Genetic testing is now a crucial step in determining a treatment plan for women diagnosed with gynecologic cancer, according to Angeles Alvarez Secord, M.D., a gynecologic cancers specialist at Duke Cancer Center.

“As soon as someone has a diagnosis of ovarian, fallopian tube or peritoneal cancer, I am talking to them about genetic testing,” Alvarez Secord said in an interview with OncLive, a sister publication of CURE. “For instance, they may have a test that indicates a pathologic mutation that puts the patient at an increased risk, or they could have a test that is negative. However, in the setting of significant family history, they are still at increased risk.”

Alvarez Secord also mentioned that while there are certain “genes of interest,” such as BRCA and microsatellite instability-high (MSI-H), patients’ genetic testing results could also show that their cancer has a variant of uncertain significance, or a form of a gene that has been identified through genetic testing, but whose significance to the function or health of an organism is not known.

In recent years, treatment has expanded for mutations that are well-understood in this space. For example, women with ovarian cancer who test positive for BRCA1/2 mutations may be eligible for one of the three PARP inhibitors that are currently on the market — Zejula (niraparib), Lynparza (olaparib) and Rubraca (rucaparib).

“We are very fortunate right now in ovarian cancer. There was at least a decade where there was nothing really happening. All of a sudden, things started to change in 2014,” Alvarez Secord said, referring to the year when the Food and Drug Administration (FDA) approved Avastin (bevacizumab) for treatment in the recurrent setting for women with platinum-resistant disease.

New drugs often come with lofty price tags; however, Alvarez Secord is optimistic recent FDA approvals of PARP inhibitors will drive the price down. “I’m hoping now that we have approvals for three different drugs, that will influence pricing,” she added.

Not to mention, they could also identify women who are at an increased risk for other cancers — such as breast cancer – and the information could be used to potentially prevent another diagnosis down the road.

“That is so striking to me — the fact that we can identify women who have a genetic predisposition to ovarian and breast cancer,” Alvarez Secord said. “Now, it is even beyond that; we are able to identify increased risk of pancreatic and other cancers. We can institute cancer screening, give treatments to try to prevent cancers, or even surgery. We will be able to reduce ovarian, fallopian tube and peritoneal cancer incidence by about 20 percent.”

Alvarez Secord also mentioned the first-ever basket approval granted to Keytruda (pembrolizumab) for patients of any cancer type whose tumors are MSI-H or mismatch repair deficient (dMMR).

“We are moving from the time where we had a one-size-fits-all approach into what I would say is a personalized approached to cancer care,” she added.

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