Genetic tests don't lead to a drop-off in vigilance

One promise of genetic testing is allowing people to take proactive steps to better their health. But it has been accompanied by a fear that people who know they don't have a predisposing gene will actually neglect important steps.

It's not so, says a study of how people with a family history of melanoma behave once they know their genetic risk. Researchers at the University of Utah's Huntsman Cancer Institute found people who have genetic testing for melanoma are more likely to follow screening recommendations and protect their skin. And finding they don't carry a gene mutation linked to the potentially deadly form of skin cancer did not lead to a drop-off in those efforts.

"We were able to show that people who had not yet had melanoma started behaving like people who'd already had the illness, taking all the precautions. That's exciting. It suggests that people can handle information and act on it in constructive ways. They can be proactive, even when managing scary cancer risk," says Lisa Aspinwall, associate professor of psychology at the U. and co-principal investigator.

Before the studies, it was unclear if reporting genetic test results was "valuable or potentially harmful to patients," says co-principal investigator Dr. Sancy Leachman, director of the Tom C. Mathews Jr. Familial Melanoma Research Clinic and associate professor of dermatology at the U. School of Medicine.

Their study is published in the June issue of Cancer Epidemiology, Biomarkers and Prevention.

The study looked at two groups, those who had themselves had one or more melanomas diagnosed and members of the same family who had not yet had a melanoma. All of the subjects were from families that contributed tissue a dozen years ago in a "gene hunt" that led to identification of the melanoma-associated CDKN2A gene.

With familial melanoma, says Aspinwall, people must be very pro-active in self-exam. Survival rates with early-stage melanoma are very good, while those at later stages are not. But even those without the gene have double the risk of the general population, in part because of shared traits like fair skin or red hair. The question was whether those people, told they did not have the gene mutation, would place themselves in a different kind of risk category by not taking melanoma-prevention or screening steps.

Aspinwall says they found that gene testing — regardless of results — paired with counseling "dramatically boosted the amount" of preventive steps people took. The most dramatic was, not surprisingly, she says, among those who have mutations in the CDKN2A gene.