Although many people resist the idea of genetic testing, Ellen Matloff, MS, director of genetic counseling at Yale Cancer Center, views it as a gift that can benefit entire families and change the future of the next generation.
The ideal time to seek genetic testing and counseling is before there is a cancer diagnosis, so that patients and physicians with hereditary risk factors can be proactive through prevention and screening. There are currently six factors for hereditary risk that Matloff and her colleagues consider:
Genetic counseling is also extraordinarily valuable for those who have been diagnosed with cancer, because it can change their surgical decisionmaking. For example, a woman diagnosed with a small, early stage breast cancer would normally be a candidate for lumpectomy and radiation, but if she carries a mutation, her risk of getting a new breast cancer would be extremely high. In that case, she might opt for a bilateral mastectomy, with or without reconstruction. But if she didn’t find out through genetic counseling that her risk for a second cancer was high, she might undergo radiation, which could make later reconstruction difficult because of skin and vascular changes.
“Knowing the risk ahead of time can save that patient a lot of grief, time, money and difficulty with reconstruction,” said Matloff.
There are also promising new treatments in clinical trials that are indicated for patients with particular mutations, such as PARP inhibitors that target mutations in the BRCA 1 and BRCA 2 genes. Since personalized medicine appears to be the wave of the future, Matloff expects that more of these treatments will be developed.
Sometimes patients put off genetic testing because they’re not ready to learn the results, said Matloff, who sees most of her patients through physician referrals. Other times, it’s the physicians who are resistant to finding out this information, because they are hesitant to burden an already frazzled patient with an additional appointment. “Seeking genetic counseling during the process, even though the patient is overwhelmed, scared and very busy, is a really important decision in the management of the cancer,” she said.
Although numerous companies encourage physicians to order testing themselves, Matloff cautions against this practice. In a study recently published in Connecticut Medicine, she and her colleagues report cases of the wrong genetic tests being ordered, test results being misinterpreted, and inadequate counseling by physicians that led to unnecessary prophylactic surgeries, unnecessary testing, psychosocial distress and false reassurances.
“Women in their twenties are having unnecessary mastectomies and oophorectomies, so there are devastating long and short-term side effects,” said Matloff. “It really makes sense for the physician, the patient and the patient’s entire family to invest in genetic counseling.”
Name: Ellen Matloff
Title: Director, Cancer Genetic Counseling at Yale Cancer Center; Research Scientist, Department of Genetics
Area of expertise: Cancer genetic counseling
Place of birth: Denver, CO Age: 41
College: Union College
Grad School: Northwestern University
Family: Daughter Leah, 1
What is most challenging to you in academic medicine? Juggling my clinical and administrative responsibilities with research, lecturing, teaching and publishing.
What is most rewarding? We see many patients when they are under a great deal of stress and will receive information that will change their lives and the lives of their family members forever. It is rewarding to support them through that process and to act as an ally who will guide them through decision-making. It is also very rewarding to work with students and to see them enjoy genetics.
What do you like most about your practice? All of the things I described in the question about challenges (minus, perhaps, the administrative headaches). The field changes so quickly and there are many different opportunities—never a dull moment.
Personal interests or pastimes: Keeping up with my daughter. In my other free minutes, kayaking, hiking, meeting new people, book club.
Last book read: Let the Great World Spin by Colum McCann.
What would you do to improve our clinical environment if you had a magic wand? With a magic wand I’d cure all of our patients, shut down the clinics and organize a free trip to Europe for all of us. Without the magic wand, I think our clinical environment would improve greatly if we integrated social and business etiquette tips from the real world. Treat patients like clients. See them on time. Review their charts for five minutes before their appointments. Greet them with a handshake, explain what we’re going to do and summarize the plan at the end of each session.