Study finds genetic tests motivate behavioral changes in families at risk of melanoma

Skin cancer is the most commonly diagnosed cancer in the United States and melanoma is the most serious type of skin cancer. The National Cancer Institute estimates that more than 96,000 new cases will be diagnosed this year and that this disease will result in more than 7,000 deaths. Utah has a particularly high melanoma rate. A new study by researchers at the Huntsman Cancer Institute (HCI) of the University of Utah and collaborators at Northwestern University (NW) and Oregon Health and Science University (OHSU) aims to determine whether genetic testing would motivate developing melanoma people to change their behavior to reduce their risk. The study was published today in Genetics in medicine.

"We are trying to understand if a genetic test result adds value beyond what can be achieved solely through patient counseling," said Lisa G. Aspinwall, co-author of the study, Ph.D., HCI researcher and professor of psychology at U. "A genetic test result is concrete and highly personalized.We thought this would be more motivating for a difficult behavioral change than risk-based information. only on family history. "

The BRIGHT (Behavior, Risk Information, Genealogy and Health) study in Utah focused on families at high risk for melanoma. Those enrolled in the study had at least three family members with melanoma. Participants aged 16 to 70 years were recruited from two families prone to melanoma: families with a known carcinogenic gene, CDKN2A, and families with comparatively high melanoma levels, but no identified CDKN2A mutation. Researchers at the University of the University have already discovered that individuals carrying a hereditary mutation of the CDKN2A gene were rare, but that these individuals were at risk of developing up to 76% melanoma in their lifetime. Sancy Leachman, co-author, MD, Ph.D., director of the Melanoma Research Program at the Knight Cancer Institute and professor of dermatology at OHSU, explains: "All melanomas have a strong genetic component, but people having extremely high risk. They are ideal candidates for prevention and early detection measures. Making some relatively simple changes could save their lives. "

Each participant received individual advice from an HCI-accredited genetic counselor. These sessions consisted of a review of the family's medical history and education about risk factors for melanoma, including exposure to ultraviolet (UV) radiation and genetic predispositions. Participants also received pre-test counseling and basic information on melanoma and genetic testing. Members of families known to carry the CDKN2A mutation were then badessed using clinical genetic testing, while subjects from families without known CDKN2A mutation received risk information based solely on their family history. All participants received identical recommendations to reduce sun exposure.

The BRIGHT multidisciplinary 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 reports. They used objective measures to track participants, including a special wristwatch-type device to measure UV rays and a laser that measures skin color to badess the degree of tanning.

The results of the BRIGHT study have shown that genetic counseling on the very high risk of melanoma, with or without test reporting, has led to a lasting reduction in UV exposure. In addition, the results demonstrate a unique benefit for participants who have undergone a genetic test: those who learned that they carried the CDKN2A mutation exhibited reduced exposure to daily UV rays the following month genetic counseling and pigmentation of lighter skin a year later.

"The results support the use of genetic tests for melanoma to motivate people to adopt risk-reducing behaviors," Aspinwall concluded. "Previously, it was thought that genetic testing would not matter because high-risk family members were already aware of their risk and they were already advised to reduce their exposure to the sun." Our study shows that genetic testing, coupled with advice on family risk and its management consequences, can be a useful tool for motivating cancer prevention behaviors. "

Tammy K. Stump, Ph.D., researcher at the NW Department of Preventive Medicine, added, "We are particularly confident in these results because we were able to use objective measurements of sun exposure at the cutting edge of not just that CDKN2A mutation carriers wanted to limit exposure to the sun – information on personal risk has resulted in a significant reduction in sun exposure levels over the course of the year. followed genetic counseling. "

The researchers say their next goal is to better understand how having a high cancer risk results in beneficial health behavior changes rather than debilitating ones. They are also looking to improve education so that the public understands that a tan is a sign of damage to the skin and to the DNA that can lead to melanoma.

The results of this study and future work will help guide the development of counseling techniques, including optimal follow-up and integration into the patient's routine health care program. Dr. Stump said, "Genetic testing is becoming more prevalent in health care, but we still do not know much about how and when to provide this information to promote healthy behavioral change. This study is an example of the type of research needed to guide decisions regarding the disclosure of genetic tests in clinical settings. "

Provided by
Huntsman Cancer Institute