Four members of Jackie Dressel's family have been diagnosed with breast cancer, including her mother, who died of the disease in her mid-30s.
Dressel's doctor sent her to be tested for well-known genes linked to increased risk for breast and ovarian cancer, and though the tests were negative, she opted for a preventive double mastectomy anyway.
"I didn't want to live in fear anymore," said the 30-year-old Towson therapist. "For me, it was a relief."
MedStar Health, which treated Dressel, is launching a program aimed at patients like her who have a family history of a specific cancer, mutant genes linked to one or more types of cancer, or other factors that could make them more likely to develop tumors. A team that includes specialists and genetic counselors will assess a patient's need to be screened for cancer-related genes, develop treatment plans that consider current and future risk, and encourage regular diagnostic testing.
The hospital system follows other health providers around the country and locally, including the University of Maryland Medical System and Johns Hopkins Medicine, that have added genetic counselors in various departments or started general high-risk programs like MedStar's, as more is learned about mutant genes beyond the well-known BRCA mutations associated with breast and ovarian cancer.
Dr. Yvonne Ottaviano is chief of medical oncology at Franklin Square Medical Center, where the MedStar High Risk Assessment and Cancer Prevention Program is based. She said the program intends to offer an extensive educational component for the public and an emphasis on follow-up, normally left to patients. Ottaviano said she "wants to make sure they don't fall through the cracks."
She said not everyone with a genetic mutation or family history will need immediate treatment, but many may need to undergo more frequent testing with mammograms, MRIs, colonoscopies, blood tests or other exams. Some may benefit from lifestyle changes, drugs or even surgery such as Dressel's.
"If you have a mutation, it's for a lifetime," Ottaviano said. "You don't meet someone once and they recommend something, and then you fall off the wagon and don't go for a mammogram or colonoscopy anymore. And believe me, people fall off the wagon all the time."
The counselors and doctors in the program will look at conditions and cancers that may give rise to multiple forms of the disease. An inherited condition called Lynch syndrome increases risk of colon and other cancers, for example. And BRCA mutations also can increase risk of prostate cancer.
Doctors and genetic counselors in several other high-risk cancer programs say patients usually are referred by primary care doctors or specialists who diagnosed cancer or learned of a family history of the disease, though some patients contact them directly. Genetic counselors use standard questions to gauge the need for genetic testing, and generally like to narrow their search for mutations by testing a family member who already has a cancer diagnosis.
Only about 10 percent of cancers have a known genetic link, with the majority attributed to a confluence of aging, lifestyle or environment, said Jessica L. Scott, a certified genetic counselor at the University of Maryland's Marlene and Stewart Greenebaum Cancer Center, which houses a high-risk center specifically for breast cancer and a specialty group for other types of cancer.
Scott said many patients believe that having a family member with cancer means there is a genetic component when often there is not. For example, cancer that develops in a great-aunt in her senior years is likely the result of age and perhaps lifestyle and environment, and is not likely to be a sign of increased risk among relatives.
Cancer that develops in a sister or mother when she is young is more of a red flag, Scott said.
"I can say who needs to be tested," said Scott. "And as testing gets better, one test can look at many genes. I can cast a wide net."
Scott and Dr. Kala Visvanathan, who leads the high-risk program in the Johns Hopkins Sidney Kimmel Comprehensive Cancer Center, say insurance often covers the tests, which range in cost but can exceed $3,000. They also said more kinds of tests are becoming available as additional associations between genes and cancer become known.
Visvanathan, a medical oncologist and researcher focused on breast and ovarian cancer, said it's important for doctors and patients to be aware that there are genetic counselors and centers dedicated to understanding who can benefit. That could prevent more cancers in individual or their families, she said.
"My concern is that individuals and medical providers are not realizing there are these services and they can reach out," she said. "Not everyone who should be tested is getting tested."
One problem, Visvanathan said, is that there are parts of the country without full centers, staffed with genetic counselors and a range of specialists to address different types of cancers. She was unaware of anyone who tracks the centers, but said they are not easy to form because they require specific expertise.
Another issue is countering fear of cancer, and publicity from celebrities such as actress Angelina Jolie, who has a BRCA mutation and had a preventive double mastectomy in 2013 and had her ovaries removed two years later. A study last year found her actions spurred more women to seek genetic testing, but because there wasn't a corresponding rise in mastectomies, researchers concluded that these were not women who actually had mutations.
Another recent study also showed that women with cancer in one breast were opting for double mastectomies despite a lack of evidence that it increases odds of survival.
The study published last month in JAMA Surgery found in the decade ending in 2012 that the proportion of patients who underwent double mastectomies increased to 10.4 percent from 3.6 percent among women 45 and older. It increased to 33.3 percent from 10.5 percent among women ages 20 to 44. It wasn't clear how many had troubling indicators, such as Jolie's mutation or Dressel's family history.
"Surgeons and other health care professionals should educate their patients about the benefit, harm and cost ... to help patients make informed decisions about their treatments," said Dr. Ahmedin Jemal, a senior author on the study and vice president of surveillance and health services research at the American Cancer Society.
Dressel's doctors counseled her on regular imaging. But if she were to develop cancer, it might not be caught early enough for effective treatment, given the number of aggressive and ultimately deadly cancers striking members in her family. Dressel said having a child five years ago made her feel strongly that she shouldn't wait for a diagnosis.
Ottaviano said the MedStar program, which opened at the end of April, aims to give patients as much information as possible to make good choices, including preventive treatments
"There are tools and guidelines," Ottaviano said about who should be evaluated. "This is really about education."