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Researchers outline need for evaluation of gene expression profiling in melanoma

July 29, 2020

A consensus statement published today in JAMA Dermatology by an international group of melanoma researchers evaluates the use of prognostic genetic expression profile (GEP) testing to guide clinical management of patients with melanoma. The group cautioned against routine use of currently available GEP tests for patients with cutaneous melanoma.

Prognostic gene expression profiling is a technique that measures the expression of a particular group of genes that may help predict patient outcomes. For melanoma, GEP tests are designed to predict whether a patient's tumor is likely to be aggressive and metastasize. Although routine GEP testing is not endorsed by national melanoma care guidelines, its use is increasing among clinicians who care for patients with melanoma to guide decisions on treatment and surveillance imaging. GEP testing may have limitations, however, particularly in early-stage tumors where a "low risk" result could give patients a false sense of security or a "high risk" result could subject them to more aggressive treatments or monitoring that may be unnecessary. Further, there are no national standards for which type of test should be used, when it should be used, or how accurate these tests need to be.

An international group of melanoma experts, the Melanoma Prevention Working Group, sought to advance conversations around how and when gene expression profiling should be used by clinicians caring for patients with melanoma. Through a series of meetings, surveys, and literature reviews, they authored this statement to review the current data and make recommendations on use of GEP testing in melanoma. Their goal is to assist clinicians in determining when and how gene expression profiling should be adopted in clinical practice and to outline the criteria by which tests should be evaluated and incorporated into clinical care guidelines.

The group included approximately 200 dermatologists, medical oncologists, surgical oncologists, and laboratory researchers who specialize in melanoma. "We are optimistic about the future use of gene expression profiling in melanoma patients and are hopeful that this consensus statement can be a resource to clinicians in understanding the limitations of GEP testing and guiding the evaluation and use of new tests as they become available," said Doug Grossman, MD, PhD, Melanoma Center leader at Huntsman Cancer Institute (HCI) and professor of dermatology at the University of Utah. Grossman convened the working group and is lead author of this consensus statement.

The researchers hope the statement will provide a road map to help understand how GEP testing should be used when caring for patients with melanoma and what further evaluation is needed for its adoption in this field.
The evaluation was funded by the National Institutes of Health/National Cancer Institute including P30 CA042014, the University of Utah Department of Dermatology, Huntsman Cancer Foundation, the Medical Research Council of Australia, the American Skin Association, and the Sydney Medical School Foundation. Other HCI investigators contributing to this work include Ken Grossmann, MD, PhD, John Hyngstrom, MD; Siwen Hu-Lieskovan, MD, PhD; and Robert Judson-Torres, PhD. The manuscript is dedicated to Glen Bowen, MD, who also contributed to this work and whose untimely death occurred just days before this manuscript was submitted.

Huntsman Cancer Institute (HCI) at the University of Utah is the official cancer center of Utah. The cancer campus includes a state-of-the-art cancer specialty hospital as well as two buildings dedicated to cancer research. HCI treats patients with all forms of cancer and is recognized among the best cancer hospitals in the country by U.S. News and World Report. As the only National Cancer Institute (NCI)-Designated Comprehensive Cancer Center in the Mountain West, HCI serves the largest geographic region in the country, drawing patients from Utah, Nevada, Idaho, Wyoming, and Montana. More genes for inherited cancers have been discovered at HCI than at any other cancer center in the world, including genes responsible for hereditary breast, ovarian, colon, head, and neck cancers, along with melanoma. HCI manages the Utah Population Database, the largest genetic database in the world, with information on more than 11 million people linked to genealogies, health records, and vital statistics. HCI was founded by Jon M. and Karen Huntsman.

Huntsman Cancer Institute

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