This story originally appeared in the Summer 2017 issue of Cincinnati Health & Life Magazine.

How genetic testing helps save lives.

Cancer that's found early, before it has a chance to grow and spread, often is easier to cure. Genetic testing takes that idea one step further: It allows doctors to offer care options at the earliest possible point in time—before cancer has even developed.

Genetic testing identifies patients who are at increased risk for specific cancers because they inherited a certain genetic mutation (a permanent alteration in a gene). For example, a mutation in the BRCA1 gene is known to increase a woman’s lifetime risk of developing breast cancer by age 70 from about 12 percent (risk in the general population) to about 60 percent (range 46-87 percent). That same mutation also causes a woman’s lifetime risk of ovarian cancer to jump from 1.5 percent to 35-40 percent.

Finding out whether you carry a genetic mutation that increases cancer risk can be challenging emotionally. However, most people find that difficulty is far outweighed by the potential benefit and empowerment their knowledge can provide.

“Some people either don’t think anything can be done or are afraid of finding out their results,” says Kevin Schuler, M.D., a gynecologic oncologist at TriHealth Cancer Institute. “What many patients don’t know is that options often exist that can drastically reduce or even prevent certain cancers from arising all together. Unfortunately, avoiding this information doesn’t make your risk go down. On the other hand, knowing your risk and how it may be mitigated empowers you to make a decision that could be important for you and your family.”

Preventative Measures

Options to reduce cancer risk may include surgery, earlier and more frequent screening or biopsy, and medications. These can have a dramatic impact on cancer risk. For example, for BRCA1 carriers preventive mastectomy can reduce breast-cancer risk by 90-95 percent, and removal of ovaries, fallopian tubes and/or uterus can have a similar effect on ovarian-cancer risk. High-risk patients who take the medication tamoxifen for five years can cut their breastcancer risk by half. Lifestyle changes may further reduce risk.

In addition to genetic mutations tied to breast and ovarian cancer, researchers have discovered mutations linked to colon, endometrial, thyroid, pancreatic and other cancers. Today, multiple genes are tested simultaneously in a panel format.

Genetic counselors are health professionals specially trained in medical genetics and counseling to help individuals and their families understand and manage risk for inherited cancer. The first step in the genetic-testing process is a risk-assessment consultation with a counselor.

The Testing Process

“Most patients are referred by their physician, but some self-identify as having risk factors,” says Karen Huelsman, MS, LGC, a board-certified genetic counselor at TriHealth Cancer Institute. “The purpose of the first genetic-counseling visit is to assess level of risk, determine whether a patient is a candidate for genetic testing, and determine the best strategy,” she explains. This includes deciding which genes should be tested, which family member should be tested first, and which lab is the best fit for the patient’s needs.

If patients are eligible and decide to pursue genetic testing, the genetic counselor will coordinate testing for them, managing everything from obtaining a DNA sample and selecting a lab to requesting pre-authorization from the patient’s insurance company. This is done before a test is run so that any out-of-pocket cost is known in advance.

Covering the Cost

“Most of the time,” says Huelsman, “if patients have risk factors that meet testing criteria and we send a request to the insurance company, including Medicare and Medicaid, it gets authorized.”

Grants and financial support that can help cover testing are also available. “Families these days shouldn’t let cost be a barrier to having genetic testing or at least exploring the option,” says Huelsman.

Once the results are available, generally in about two to four weeks, the counselor will manage the patient’s follow-up. “If it’s an entirely negative result, especially when we already know the mutation in the family, this is very reassuring,” Huelsman explains. “These patients can follow typical background-level screening for general population risks.”

For patients with a strong family history but no detectable mutation to explain the cancer, a screening plan is created based on the patient’s cancer risk. Sometimes repeat testing is offered to those families as new genes are identified.

If a high-risk genetic mutation is found, the counselor will schedule a second appointment to map out the associated cancer risks and options for preventive action that can be taken.

“During this visit,” says Huelsman, “the genetic counselor will identify specialists who can address specific needs, such as gynecologic oncology or breast surgery, to bring together a team of care providers focused on the patient’s unique needs.”

The final step is to identify which other family members are in the inheritance path of the mutation and offer testing for siblings, children, parents, cousins and other relatives who may be affected. Since starting her genetics practice in 1994, Huelsman has seen a common theme: “A primary motivation for many patients undergoing testing is to provide information for the next generation,” she says. “They want to give their sons and daughters the ‘heads-up’ they never had.”

The Counselor's Role

Genetic counselors are a patient’s ally in the testing process, translating highly technical data into information that patients can use. “Overall,” says Dr. Schuler, “genetic counselors are an invaluable resource to patients and physicians alike.”

For people with a family history of cancer, genetic testing can provide important and potentially life-saving information. “People may avoid learning more about testing because they don’t realize there are preventive steps that can be taken,” says Huelsman. “The good news is that for almost every type of cancer there’s some type of screening or prevention we can put into place when we know someone is at increased risk.”