Sarah's mother died young of breast cancer. And so did her grandmother. Now the mother of two girls, Sarah (a pseudonym) is worried about her own risk of breast cancer--and about how her health will affect her daughters. Her fears of cancer also extend to them. If she inherited breast cancer genes, did the girls also? Should she undergo genetic testing? How will she deal with the results? Will she tell her family?
Psychologists can help people like Sarah navigate these tough decisions, say experts in genetics. And with genetic diagnostic tests available now--to assess the risk for conditions such as breast cancer, colorectal cancer, Huntington's disease and Alzheimer's--the number of people in Sarah's position is growing. Indeed, according to some estimates, more than a quarter of a million people are now appropriate candidates for genetic cancer testing based on their health profiles.
"When people consider genetic testing they are really faced with coming to terms with all the psychological implications of what that knowledge does for them and for their families," says Carol Goodheart, EdD, a New Jersey private practitioner and APA Board of Directors member who served on APA's Advisory Council on Genetic Issues.
Psychologists, she says, can help patients with their decisions of whether to undergo testing or not, how or if to involve family members, how to work through test-related anxiety and how to cope with positive test results. Adds psychologist Andrea Farkas Patenaude, PhD, a clinician and researcher at the Dana-Farber Cancer Institute and assistant professor at Harvard University Medical School: "There's an important role for psychologists in helping patients put together the many threads that converge with genetic counseling."
And, note both Patenaude and Goodheart, psychologists have much to offer the genetic revolution as clinicians, researchers and educators.
Psychologists like Patenaude and Kenneth Tercyak, PhD, professor of oncology and pediatrics and biobehavioral researcher at the Lombardi Comprehensive Cancer Center at Georgetown University, have been at the forefront of studying how people cope with the enormity of their decision to undergo testing.
"Patient preferences for how to receive information is a key area of study," says Tercyak. "How do people's coping styles fit into how they learn new medical information? In an ideal setting, we could provide that information and use that as part of the genetic testing process. Counseling is not a one-size-fits-all thing."
In one study, published in May 2001 in Health Psychology (Vol. 20, No. 3), Tercyak and colleagues examined the immediate effects of coping style and test results on the psychological distress of women at increased risk for breast and ovarian cancers. They found that the women's levels of stress while anticipating genetic results and after testing positive for a mutation depended on coping styles.
Tercyak suggests that this information could be useful clinically: Psychologists could screen patients for coping styles before testing and work with them during and after the testing to help them manage emotional distress.
In another study, published in April 2001 in Patient Education and Counseling (Vol. 43, No. 1), Tercyak and colleagues investigated the psychological distress of pregnant women who were referred for amniocentesis because of increased risk of fetal genetic problems. They found the experience helped allay some of the women's fears of genetic abnormalities, but their perceived risk for such problems was still higher than actual risks. They concluded that pregnant women who experience unrealistic perceptions of their pregnancy may benefit from psychological interventions before genetic counseling.
Psychologists can not only help patients work through their decision to undergo testing, they can also work with genetic counselors to determine how best to share genetic information with individual patients, says Tercyak.
Patenaude's recent work falls along the same lines--how people handle genetic information and what kind of support psychologists can provide. For example, she's looking at women undergoing prophylactic mastectomies--after genetic testing determined they were at increased risk for breast cancer.
"We're trying to understand the emotional aftereffects and what these women would like as psychological support," she says. "The women were very eager to talk, but they said there were not a lot of places for them to go after their surgery. Most of them were glad they'd done it, but said the surgery had very profound psychological and interpersonal consequences," Patenaude notes. Women's sense of their femininity, their comfort with their bodies, their sexual responses and enjoyment were affected by the loss of their breasts, she says.
In fact, many of the women agreed that it was a very difficult decision for their spouses. "There's certainly room for interventions in that area," says Patenaude. What's obviously important, she says, is making psychological support a built-in service--part of the genetic counseling process, whereby psychologists are part of teams of genetic counselors and physicians.
Working with patients
Patenaude works as part of a team offering psychological services and doing research--along with physicians and genetic counselors--at the Dana-Farber Cancer Institute. But it's relatively rare for hospitals to have a built-in clinical service with genetic testing as hers does. Rather, most psychologists, whether in hospital settings or private practices, will likely randomly--but probably increasingly--encounter patients who need help handling issues surrounding genetic testing, according to Patenaude.
What do they need to know to best help these people?
The basics of genetics. That doesn't mean, however, that psychologists need intensive training about the medical conditions, says psychologist Susan McDaniel, PhD, director of the Wynne Center for Family Research and professor of psychiatry and family medicine at the University of Rochester. "What you need is the ability to ask questions of geneticists, genetic counselors and other physicians," she says.
For example, psychologists can help patients better understand their genetic risk profiles and determine their need and timeframe for testing if they have some knowledge of genetics. Patients often misunderstand their own risk for disease, according to Patenaude. In fact, says Goodheart, many women are especially terrified of breast cancer. "But really women are more likely to die from heart disease--only a small percentage of breast cancers are based on genes," she explains.
Family dynamics. Psychologists need family-systems training, say experts, since one patient's genetic risks can have implications for the rest of the family. For example, along with another psychologist, a geneticist and genetic counselor, McDaniel is working with an entire extended family--37 members--on issues of whether to test for hereditary colon cancer, what difference testing will make medically and how to handle the related emotional issues.
"Family members develop their own idiosyncratic belief systems about the genetics of a disease," she says. Some think if a child looks like a parent, the child is probably a carrier, she notes, and others may develop a type of survivor guilt if they are mutation free while others aren't.
Patenaude adds: "Who patients talk to, who they tell about results, who feels left out, who feels pressured, who feels overwhelmed--these are all issues patients confront."
What's more, the psychologist's role doesn't stop after helping patients with the emotional testing decision. Their help is also key to helping patients cope and plan for their lives if they get a positive result.
For example, psychologists can work with someone to change his or her lifestyle--some healthy behaviors may prevent or postpone the onset of a certain disease. It's clear that psychology has much to contribute to the genetic revolution, says Tercyak.
"There are so many different traditions to draw upon here: family therapy, basic counseling, studies of decision-making, informational models and how people process basic risk information," he says. "Psychologists are at the forefront of that research, and there's direct applicability to the field of genetic counseling."