Can Genetic Counseling and Test Reporting in Patients Susceptible to Melanoma Development Change Behavior?
A new study published by Stump et al in Genetics in Medicine investigated whether genetic testing would motivate people at risk of developing melanoma to alter their behavior in order to reduce their risk.
“We are trying to understand whether a genetic test result adds value over and above what can be achieved by patient counseling alone,” said study coauthor Lisa G. Aspinwall, PhD. “A genetic test result is concrete and highly personalized. We thought this would be more motivating for difficult behavior change than information about risk based on family history alone.”
BRIGHT Study
The Utah Behavior, Risk Information, Genealogy, and Health Trial (BRIGHT) study focused on families with a high risk of melanoma. Individuals enrolling in the study had three or more family members diagnosed with melanoma.
Participants between the ages of 16 and 70 were recruited from melanoma-prone families of two types: families with a known cancer-causing gene called CDKN2A, and families with comparably high rates of melanoma but no identified CDKN2A mutation. Researchers previously discovered that individuals who carry an inherited mutation in the CDKN2A gene are rare, but those individuals have a risk of up to 76% of developing melanoma in their lifetime.
Each participant received individual counseling from a licensed genetic counselor. These sessions consisted of a review of family medical history and education about melanoma risk factors, including exposure to environmental ultraviolet radiation (UVR) and genetic predisposition. Participants also received pretest counseling and basic information about melanoma and genetic testing.
Members of families known to carry the CDKN2A mutation then were assessed through clinical genetic testing, whereas subjects from families with no known CDKN2A mutations received information about risk based on family history alone. All participants received identical recommendations for reducing sun exposure.
The multidisciplinary BRIGHT research team included genetic counselors, psychologists, a dermatologist, photobiologists, and an atmospheric scientist. The team examined changes in sun exposure following genetic counseling and test reporting. They used objective measures to track participants, including a special wristwatch-like device to measure UVR and a laser that measures skin color to assess the degree of tanning.
Results
The BRIGHT study results showed genetic counseling about highly elevated melanoma risk, both with and without test reporting, led to sustained reductions in UVR exposure. Additionally, the results provide evidence of a unique benefit to participants who received genetic testing—those who learned they carry the CDKN2A mutation showed reduced exposure to daily UVR the month following genetic counseling, and they showed lighter skin pigmentation 1 year later.
“The results support the use of melanoma genetic testing to motivate people to adopt risk-reducing behaviors,” Dr. Aspinwall concluded. “Previously, it was thought genetic testing wouldn’t matter because members of high-risk families already knew about their risk and were already being advised to reduce their sun exposure. Our study shows that genetic testing, paired with counseling about familial risk and its management, can be a useful tool to motivate cancer prevention behavior.”
Study coauthor Tammy K. Stump, PhD, added, “We are especially confident in these results because we were able to use state-of-the-art objective measures of sun exposure. It’s not simply that those with the CDKN2A mutation wished to limit sun exposure—information about personal risk resulted in significant reductions in the levels of sun exposure during the year following genetic counseling.”
Researchers say their next goal is to better understand how knowledge of having a high risk for cancer leads to health-promoting changes in behavior rather than leading to debilitating responses. They also seek to improve education so the public understands a suntan is a sign of skin and DNA damage that can lead to melanoma. Findings from this study and future work will help guide the development of counseling techniques, including optimal follow-up and integration into a patient’s routine health-care program.
Dr. Stump noted, “Genetic testing is becoming more common in health care, but we still don’t know a lot about how and when to deliver this information in a manner that promotes healthy behavior changes. This study is an example of the type of research needed to guide decisions about genetic test disclosure in clinical settings.”
Disclosure: This research is supported by the National Institutes of Health/National Cancer Institute, the National Center for Cancer Research Resources, the National Center for Advancing Translational Sciences, and Huntsman Cancer Foundation. For full disclosures of the study authors, visit nature.com.
The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.
