Providing clues
Dana-Farber genetic counselors Shelley McCormick (left) and Alexandra Perez review some tools of the trade.
There are many steps one can take to prevent cancer, and the Friends clinics are fostering better ways to do so through studies on various medications and screening techniques. For example, two projects, dubbed REACH and PROSE, are probing the interactions of cancer susceptibility genes such as BRCA1 and 2 with lifestyle factors by tapping blood samples and questionnaire data donated by patients and family members over time. "This kind of research has already helped provide important information that we use to advise patients about surgery, magnetic resonance imaging (MRI), and other options for addressing breast cancer," says Garber.
The colorectal group, meanwhile, is examining a new approach to colonoscopies aimed at making polyps – growths that can turn cancerous if not removed – easier to spot. It involves spraying the lining of the colon with a blue dye during the procedure, which examines the inside of the digestive tract using a flexible tube with a small camera attached. Each participant in the clinical trial received two colonoscopies, some with and some without the dye. "For people with a high risk of cancer," Syngal reports, "it looks like we're finding more early small polyps that are missed by standard colonoscopies. It's not clear, however, what would have happened if you waited until the next colonoscopy – that's the big question."
Syngal is drawn to the practical applications of this research, taking a discovery from the laboratory to the clinic to enhance patient care. "That's what genetic testing has done over the last 5-10 years," she reflects. "It has become standard and easy for many patients, and they are using testing to make medical decisions. If you're from a family that has a mutation but test negative, you've saved yourself 25 colonoscopies over your lifetime. So a negative result is really meaningful."
That couldn't be truer for Hazel Reynolds of Seekonk, Mass., who was seriously considering prophylactic surgery to remove her ovaries and breasts after several women in her family developed cancer. It was the mid-1990s, and her community doctors had recommended this step shortly after her sister Evi was diagnosed with ovarian cancer. But on the advice of Dana-Farber's Judy Garber, Reynolds went ahead with testing for BRCA1, which had just become available. Although her mother was positive for the genetic alteration, Reynolds turned out to be negative. "It was a huge relief, although I also had a lot of guilt because my sister was suffering from ovarian cancer." Her sister was treated at the Institute until her death from the illness in 2000.
Shortly after Evi's daughter, Erika Higgins, turned 30, she also wanted to know. Her insurance didn't cover the $400 test, but she was able to proceed, thanks to a fund established by a Dana-Farber donor. "I was terrified of her doing the testing, and it was another huge relief when she found out she was negative," recalls Reynolds, who now is a clinical research coordinator with the Institute's lymphoma program.
"When I turned 50, Erika gave me a charm for my silver charm bracelet inscribed with the words 'Lucky times 2,'" referring to their both being free of the BRCA1 mutation. "It was the best present I could have received."
