The Silvas’ ordeal highlights the importance of knowing one’s family medical history through genetic testing. “When Vanessa was a patient of mine before, she didn’t know her family history,†notes Dr. Sharon Rosenbaum Smith, a surgeon in the division of breast surgery at St. Luke’s-Roosevelt Hospital Center, who treated the New York City-based Silvas. “It wasn’t until her dad was diagnosed with breast cancer that it came out that there were all these other people in the family affected [by the disease].â€
Genetic testing examines a person’s DNA, the chemical database that carries instructions for the body’s cells so they can reproduce and function. Tests can reveal changes in your genes that may cause illness or disease. The Silvas used a type of genetic testing called carrier testing, in which a person with a strong family history can determine if he or she has an altered gene that can increase the risk of developing a particular disease. Talking to a genetic counselor about family medical history can help address concerns and options depending on test results. According to the National Cancer Institute, the cost of genetic testing can range from several hundred to several thousand dollars, so it’s important to check with your insurance provider about coverage.
Rosenbaum Smith concedes, though, that some patients are reluctant to submit to such testing. “The hesitation isn’t what it means to that person,†she explains, “but what it means to the family. If someone tests positive, it certainly has implications for other family members, siblings, and children.â€
In total, the Silvas have 10 family members who have altered BRCA genes and/or received a cancer diagnosis; three have died from the disease. Because the family members include Arnaldo’s father, two sisters, three cousins, one niece, one aunt, and his son and daughter, Arnaldo, 59, believes his father, who is currently terminally ill with cancer, is the primary carrier of the gene mutation.