Fifteen years ago, it was rare for someone to call an oncologist before they had a cancer diagnosis. Today, genetic counseling and testing are increasingly helping patients determine if they are at higher risk of developing cancer as a result of having a hereditary cancer syndrome.
Genetic testing for cancer has evolved over the last several years. With the implementation of next-generation gene sequencing, we can now uncover up to 80 cancer-causing mutations in a single tube of blood, delivering results in two to three weeks. That advanced technology can guide decisions on possible preventative measures, from lifestyle changes to extra screening tests to medication, or prophylactic surgery.
“Our goal is to keep people healthy and never have to give them chemotherapy,” said Dr. Ranjit Goudar, a medical oncologist and hematologist with Virginia Oncology Associates (VOA). “This also is not like testing for a disease without a cure, as most cancers are treatable if caught at an early stage.”
VOA has two full-time genetic counselors working out of six offices in Chesapeake, Suffolk, Norfolk, Virginia Beach, Newport News, and Elizabeth City, N.C. They are among just 4,000 such experts nationwide.
Certified Genetic Counselors, Tifany Lewis and Clare Morris, advise patients referred for possible testing based on select criteria, including multiple cases of a cancer type in a family and/or a history of early disease, such as breast cancer at age 45 or younger.
“I firmly believe that knowledge is power,” said Lewis, manager of VOA’s Genetic Counseling program. “The more informed decisions are, the better the outcome. You want to have the best chance of minimizing risk or improving the chance of early detection.”
Roughly 5 to 10 percent of cancers are linked to a hereditary cancer syndrome, often due to a change in a single gene. Some two million Americans have one of the most common inherited mutations, Hereditary Breast, and Ovarian Cancer Syndrome or Lynch Syndrome.
“Not even 10 percent of them have been identified, so most have no idea or are just resigned to getting cancer,” Dr. Goudar said. “We’re seeing more awareness of genetic testing, but we’re at the tip of the iceberg still.”
Hereditary Breast and Ovarian Cancer Syndrome is marked by mutations in the BRCA1 or BRCA2 gene, increasing the risk of breast, ovarian, fallopian tube, melanoma, pancreatic, and prostate cancers. Lynch Syndrome is associated with a mutation in one of five DNA mismatch repair genes and raises the odds of colon, rectal, uterine, and other cancers.
At VOA, during an initial hour-long appointment with a genetic counselor, the following are reviewed: medical and family history, risk factors, genes associated with hereditary cancer syndromes, testing options, possible test results/ management, and the limitations of current tests.
“A negative result doesn’t mean there’s zero risk, while a positive doesn’t mean there’s a 100 percent chance of cancer,” Lewis noted. “There are numerous environmental and lifestyle factors that can play a role as well.”
A patient with a negative result still could qualify for additional screening tests, she adds, such as breast MRIs in addition to mammograms or more frequent colonoscopies to check for precancerous colon polyps.
Patients and families must be comfortable with the process before moving forward, as results can impact everything from life insurance rates to decisions on having children. “Being scared is normal, and education is extremely important,” Dr. Goudar said. “We want patients to be informed on all practical and emotional components ahead of time.”
Post-test decisions are highly individualized, too. For instance, physicians might recommend a diet and exercise plan to help lower the risk of obesity-related diseases such as breast, esophageal, and rectal cancers. Or patients with a BRAC1 or BRCA2 mutation might opt to start preventive medication or have breast and/or ovarian tissue removed.
“We’re never stamping anyone with an expiration date,” Dr. Goudar stressed. “Instead, we’re giving them more power.”
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