Dermatology Services

Genetic Testing for Melanoma May Spark Better Prevention

Wendy Leonard
Deseret News
Published January 6, 2011

SALT LAKE CITY -- Researchers at the University of Utah's Huntsman Cancer Institute have found that if a person knows they have a greater chance of contracting melanoma, it might make a difference in the choices they make throughout their lives.

And unlike genetic testing used to detect other diseases — such as breast and ovarian cancers where there is little a person can do to ward it off — knowing melanoma is a possibility could spur various prevention strategies.

MaryAnn Gerber

MaryAnn Gerber (at age 25) after laser treatment to remove Stage 3 melanoma from her face and neck. She had 26 lymph nodes removed and had to relearn how to move her neck and facial muscles.

"Knowing what I went through and what happened to me, I would hope, hope, hope that I would make difference choices," said MaryAnn Gerber, 29, who spent more time in a tanning bed than she spent outdoors as a teen.

She had no idea the warmth and enjoyment she got from tanning would eventually leave her scarred and with a 50 percent chance of death.

Gerber was diagnosed with Stage 3 melanoma at age 24, after she asked a doctor to remove a small mole on her face for vanity sake. Had she known all the trouble it would later cause, she believes she would have "said no to tanning."

"Genetic testing for melanoma occupies a middle ground because with or without the mutation, cancer screening and prevention measures remain the same," Wendy Kohlmann, a genetic counselor at the HCI and the study's co-author said. "However, children and adolescents who know they have an increased risk of the disease have many opportunities to make lifestyle changes and choices that potentially reduce their melanoma risk."

Generally, genetic testing of children is recommended only when a clear benefit to the child will result. If the test is negative, it could also create a false sense of security in some people.

Kohlmann said that children with the added knowledge gained from genetic testing may be more consistent in practices such as increased skin cancer screening and reduced exposure to harmful ultraviolet rays through wearing protective clothing and using sunscreen in the sun, as well as avoiding tanning beds.

Dermatologists have recommended such behaviors long before genetic testing became available because prevention is key for melanoma, which is the most serious type of skin cancer. However, research has found that up to 10 percent of all melanoma is hereditary.

Kohlmann, Dr. Sancy Leachman, of the U.'s dermatology department, and psychologist Lisa Aspinwall researched a specific gene mutation — CDKN2A — finding that up to 67 percent of all melanomas result from it, as well as some forms of pancreatic cancer.

The data they gathered from their two-year study is significant because it concludes that certain people are good candidates for genetic counseling based on not only the environment in which they live (or how often the sun shines) but also their family history. Such information will help identify those at highest risk for one of the deadliest forms of cancer.

“Identifying the risk may help prevent melanomas from occurring through improved screening and improve outcome of melanoma through earlier detection,” Leachman said.

Genetic testing to detect a predisposition for melanoma was a popular idea among the 61 adults who were surveyed in the HCI study, as 86.9 percent said they would support genetic testing for melanoma in minors.

The only downfall to genetic testing at such a young age is a potential compromise of the child's autonomy and certain psychological harms, such as worry and stress associated with knowing about the chances of getting cancer. It can also be an expensive procedure to isolate a specific gene and is sometimes not covered by insurance.

"People can use this knowledge to proactively manage their familial cancer risk when they have the most options to do so," Aspinwall said.

Now that she's a cancer survivor, Gerber delivers a message to teens around the state, at various speaking events, to always wear sunblock and get regular check-ups to catch any presence of the disease early enough to treat it.

"You're dumb when you're a teenager — you think you're invincible, you think 'nothing is going to happen to me,'" she said. "You need to protect your skin. It needs to last you your entire life."

Gerber said that when she has her own children, she'll definitely take more precaution than she did with herself, as well as get them tested early.

The study, also written by Jennifer Taber and Reed Dow from the U.'s department of psychology, was published in the December issue of the academic journal, Genetics in Medicine. It was funded by a grant from the U.'s office of the vice president for research, and an HCI Cancer Control and Population Sciences Pilot Project Award.