Weighing the options
Erika Higgins (left) gave her aunt Hazel Reynolds a charm to celebrate their both being free of the BRCA1 mutation.
Not everyone like Robinson wants to be in the know. Physicians have noted for centuries that particular diseases run in families, but only recently has science provided the tools to identify the responsible genes and, then, develop blood tests to find some of them in humans. There are currently about 200 known cancer predisposition genes, including BRCA1 and BRCA2 for breast and ovarian cancers, p53 for Li-Fraumeni syndrome, and MSH2, MLH1, and MSH6 for Lynch syndrome. Such inherited genes account for a small share (5-10 percent) of cancers, but for those with mutations in these predisposition genes, the worries are quite real. For example, women with BRCA1 or 2 mutations have a roughly 50-85 percent lifetime chance of getting breast cancer, notes Dana-Farber genetic counselor Katherine Schneider, MPH.
One of six genetic counselors who staff the Friends clinics, Schneider meets with patients, documents their family medical histories using a "genogram," and discusses the pros and cons of testing. "It can be a very powerful piece of information," she says. "Some have been wondering their whole lives and want to take action; they find it empowering. Others prefer not to know – or at least not at that moment. We try to give as much information and support as we can to help people navigate these difficult waters. A lot of grief counseling goes into this, too, as people remember relatives they've lost to cancer."
Simply harboring a mutation does not determine when – or even if – you may get the disease, but it does raise the emotional bar for patients and their caregivers. In her 2005 book Genetic Testing For Cancer: Psychological Approaches for Helping Patients and Families, DFCI psychologist Andrea Farkas Patenaude, PhD, offers guidance for professionals (psychotherapists, genetic counselors, researchers, and clinicians) who are helping people cope with the whirlwind of feelings and decisions that can accompany this situation – including "survivor guilt" when one family member carries a mutation while another one doesn't.
Although most of the program's patients are adults, Schneider also works with Jimmy Fund Clinic families, and began wondering about the differences between adults and children when it comes to genetic counseling and testing. With pediatric oncologist Lisa Diller, MD, she established the Genetics Knowledge Study in 2001 to learn whether the process was upsetting for families whose children face cancer. "My research found that, no, it was very reassuring," Schneider relates. "Even though some of the 32 parents surveyed may never have asked their doctors, they were all secretly worried about the risk to other kids in the family or about whether their child might get another cancer down the road. Most pediatric cancer cases are not hereditary, so I was able to reassure most of the families and explain why." Schneider hopes to publish her results soon.
This is one of several studies under way at Dana-Farber to probe communication issues around cancer risk. What information, for instance, do patients need to make a decision about testing? How are physicians conveying this news, and how are patients receiving it – especially in community healthcare settings? What is the impact on women who choose prophylactic mastectomies (surgically removing breasts) to prevent cancer?
"We've shown through research that physicians often don't get complete family histories, either because they don't have enough time or the patient doesn't have the details," says Syngal. "You have to know what kinds of cancers occurred in your family and communicate them to your physicians." To that end, the U.S. Surgeon General recently launched a program called "My Family Health Portrait," and Brigham and Women's Hospital (Dana-Farber's partner in adult care) is a pilot site for this Web-based tool for recording participants' health histories.
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