By Whitney Heins
When Mary was 6 years old, her mother died of breast cancer at an unusually young age. Her two maternal aunts also had cancer, one of whom died after a battle with ovarian cancer. She later learned her maternal grandmother suffered the same fate. Through childhood and adolescence, Mary and her two older sisters missed their loved ones and often wondered if they would meet the same demise.
Once the girls became women and aged into their mid-20s, they didn’t have to wonder anymore. A simple blood test would reveal if their DNA contained a mutation in genes called BRCA1 or BRCA2 that are associated with hereditary breast and ovarian cancer syndrome.
A genetic test can detect hereditary cancer and indicate whether a person carries a gene mutation that increases cancer risk. It is commonly used for families like Mary’s in which several members are diagnosed with a pattern of similar cancers at unusually young ages and without other risk factors.
The results showed that Mary was mutation-negative. However, her sisters were both positive.
Negative Results May Cause Negative Effects
An outsider would probably think that was great news for Mary. But Sadie Hutson, associate professor of nursing at UT, knows better. She realizes that Mary may feel a heavy emotional burden including a persistent sense of loss, isolation, lack of female mentorship, and fear of death from cancer.
“She’s seen many family members succumb to this disease and she thinks, ‘Why was I spared?’” says Hutson. “This is something that also makes individuals question their results. It is very hard for them to relinquish their ‘cancer risk identity.’”
In an age where technology has the power to calculate the odds of our mortality, medicine is no longer just about drugs and medical procedures. It includes a constellation of psychological, social, biological, and emotional aspects that coalesce around the disease.
These all-encompassing effects, particularly related to hereditary cancer, are what Hutson examines. She provides hereditary cancer risk assessment and genetic testing at the Pikeville Medical Center in Kentucky and knows firsthand the power this knowledge has on people—for better or for worse.
“When you are dealing with genetic information, I think what we have done in terms of technology is so remarkable,” she says. “But at the same time, for those who are mutation-negative, you are creating a new subset of patients that you are calling unaffected, but they are not unaffected psychosocially. They still have very significant feelings and issues.”
Assessing the Complexities
Hutson and her colleagues wanted to explore the needs of mutation-negative patients, like Mary, who tested negative for a mutation but have lived most of their lives in a hereditary cancer family.
The idea for the study emerged from another project on breast-imaging in which mutation-negative women from hereditary breast and ovarian cancer families were recruited as a control group. The participants’ overwhelming response for four years of intensive and often painful procedures prompted the researchers to puzzle over the participants’ motivations.
“Living in a hereditary breast and ovarian cancer family is a complex experience that affects cognitive, emotional, and social functioning,” Hutson says. “We wanted to peer into the unmet psychosocial needs of these women so that we can provide better information to patients and health care professionals, particularly in the primary care setting following genetic testing disclosure.”
Hutson’s team designed a qualitative-descriptive study in which they interviewed thirteen women nationwide. During a nearly two-hour phone conversation, the women were asked about their experience of living in a hereditary cancer family; risk perception after learning they are mutation-negative; and communication patterns with mutation-positive family members.
The women detailed the devastating consequences the disease had on their families and their fear of a premature death. Many were forced to adopt adult responsibilities at a young age. Some became well-informed health care consumers and felt compelled to live life to the fullest. Several also found peace in spirituality.
Although their tests were mutation-negative, Hutson found that the women had a sense of reluctance about the results and a persistent sense of being at a high risk of cancer. Therefore, they believed the screenings associated with the study would be able to detect cancer sooner.
“We assume that women transition their personal cancer risk perception from high to average after receiving negative results,” says Hutson. However, older women—particularly those in their 40s and 50s—who lived with the elevated risk perception for so long are less able to shed this belief that has become part of their identity.
“We now know that cancer risk perception is lowered but not always to the level of the general population following a negative result,” Hutson explains.
The Family Impact
Despite suspecting they may still carry a predisposition to cancer, the women expressed great relief in knowing they could not pass on the family mutation to their children.
When taking a test that unearths feelings of life or death, Hutson found that some family members make pacts with one another. Some make official pacts of silence—to never discuss the test results after they are disclosed—as well as unofficial pacts.
“I think at first when I got my results, it was very hard for my sister…and I couldn’t be too happy [around] her because she still had this cancer,” said one of the participants.
Expectedly, the results drove a wedge between family members and even created situations of jealousy in which mutation-positive family members wished there was another mutation-positive relative with whom they could share their experience.
“These perceptions may lead to intensified feelings of guilt for mutation-negative women and could create a need for psychosocial intervention among mutation-negative and mutation-positive women,” says Hutson.
Emerging from the Shadow
Hutson’s findings indicate that merely telling someone they do not have a high risk of cancer is not enough, since living with cancer has been a lifelong reality. By moving from a perceived mutation-positive category into a mutation-negative category, they are simply becoming a different kind of patient with different needs.
“The transition requires a redefinition of one’s self-image and risk, both of which require time, emotional, social, and medical support, and multiple opportunities for clarification and change in awareness,” says Hutson.
Hutson’s study has been disseminated to national audiences through publications and conference presentations with the aim of health care professionals integrating the findings into their practices. She recommends health care providers consider a family-centered approach that incorporates both the mutation-positive and mutation-negative family members. The mutation-negative patients need reassurance that they are now at a population level of risk and that following routine cancer screening guidelines are appropriate and safe. Also, they need reassurance their children are not going to inherit the family mutation. These patients may require support and counseling related to grieving the loss of family members and the ongoing difficulty of living as a mutation-negative member in a multi-case hereditary cancer family.
Leading by Example
In Pikeville, Hutson counsels her mutation-negative patients more extensively—particularly if other family members are currently carrying the gene change. She also offers referrals to providers (when appropriate), as well as follow-up visits to troubleshoot relationship issues.
“I’ve even had families come in for group counseling to share their feelings about mutation status,” says Hutson. “This family had positive and negative members. We discussed how their results made them feel and worked on their communication.”
Hutson has also engaged in a study investigating the knowledge, attitudes, and referrals patterns of primary care providers in Appalachia as it pertains to cancer genetic services. Her aim is to uncover what barriers may exist to these services to improve access.
It is Hutson’s hope that her findings will inspire the health care community to treat both negative- and positive-mutation individuals with equal amounts of care. She is dedicated to helping families like Mary’s obtain personalized treatment and remain a healthy unit that helps one another—no matter the odds.