WHEN IT COMES TO FIGHTING ANY FORM OF CANCER, the best outcomes are usually achieved when the disease is identified and treatment is initiated in the earliest possible stage. However, an even more favorable scenario is to identify people who are at elevated risk of certain cancers before they develop so screening and surveillance protocols can be individualized as appropriate for the purpose of prevention.
According to Sayeema Daudi, MD, of Mercy Health – Gynecologic Oncology, genetic evaluation and counseling can be a powerful tool for preventing certain cancers—specifically those that can be linked to inherited mutations of particular genes, such as BRCA1 and BRCA2. She notes that among the cancers that can have a genetic predisposition are many of the gynecologic types that she and her colleagues specialize in treating, including breast, ovarian, and uterine cancers.
“Genetic evaluations are part of our comprehensive program,” Dr. Daudi states. “Our genetic counselors, medical oncologists, and gynecologic oncologists all work in concert to test patients and ensure they’re getting the proper screenings.”
The message Dr. Daudi hopes to convey to primary care physicians and the general community is that if a patient has a personal history or family history of cancer—even if that history goes back a few generations— genetic testing and counseling may be appropriate. “We can have our genetic counselor check with your insurer to determine whether the testing is covered and then get the most comprehensive panel possible. If pathologic gene mutations are identified, we know the patient and his or her family are at increased risk of cancer, which allows us to screen these folks on a high-risk program. The goal is to identify malignancy risk early, ideally at a precancerous stage at most,” she says.
The genetic evaluation process is quite simple, starting with a phone call or in-person visit to get details of the patient’s personal and family history. Based on that information, the doctor will decide whether to take a blood sample or a mucosal swab to collect a DNA sample, which will then be sent to a lab to run a commercial assay. The gene panel being analyzed for pathologic mutations can be small or very extensive. In addition to identifying cancer
In addition to identifying cancer risk, genetic testing can help patients and their doctors decide whether surgery or medical therapy for the purpose of risk reduction might be an appropriate next step. For example, after discovering through genetic testing that she carries a mutation of the BRCA1 gene, the famous actress Angelina Jolie, who has a strong family history of ovarian cancer, chose to undergo preventive removal of her ovaries and fallopian tubes to reduce her risk of developing this potentially deadly disease.
How great an impact can risk-reduction procedures have on a patient’s likelihood of developing cancer? According to Dr. Daudi, the degree of risk reduction varies from one cancer type to the next but is quite significant for ovarian cancer. She explains, “The lifetime risk of developing ovarian cancer is about oneand-a-half percent for the general population, but the risk can be as high as 50 percent for women who are at high risk with a genetic mutation. With risk-reduction surgery, we can actually bring that risk down from 50 percent to a level of risk below that of the general population. It’s truly remarkable that something as simple as a minor surgery can put these women in a much healthier state and dramatically lower their risk of developing cancer.”
Dr. Daudi notes that some patients who could benefit from genetic testing and counseling choose to avoid it, either because they’d rather not know what the testing might reveal or they’re concerned that the findings will have an adverse impact on their insurance coverage. “I try to help them overcome their reluctance by offering the perspective that knowledge is power—and we can use that power preventively,” she says.
With respect to genetic testing affecting insurance coverage, Dr. Daudi emphasizes that current law forbids insurers from using genetic information in making decisions regarding a person’s health insurance eligibility or coverage. However, it’s important to note that this law does not apply to life insurance, so she encourages patients to get life insurance coverage before undergoing genetic testing if they so desire.
“The bottom line for primary care physicians and members of the general public is, if you’re concerned that an individual’s family or personal history of cancer puts them at high risk, we’re concerned as well and it warrants further evaluation,” Dr. Daudi says.
