Genetic testing for uveal melanoma

Investigators at Washington University St. Louis have developed a genetic test for choroidal melanoma. This test has now been validated and is offered by a company known as Castle Biosciences. Click here to read more about the test, known as the Decision DX UM test.

The test tells you whether your tumor is more or less likely to show up years later as a metastasis to other parts of the body. Currently, we do not have an “intervention” that makes use of the results of the test. In other words, even if your test comes back positive that your tumor is more likely to show up years later as a metastasis, there is no special adjuvant chemotherapy. If your tumor does come back as more high risk, you can discuss with your primary care doctor more frequent MRI scans of the liver. In addition, the information may be useful for your personal and family planning: understandably, patients “like to know.”

Whether your test tells us that your tumor is more or less likely to metastasize, your choices will be enucleation (remove the eye) versus radiation, and survival is the same with either choice. Even if you have a tumor that is more likely to metastasize, choosing to remove the eye does not help your chances.

The test requires a biopsy of the tumor inside your eye. The biopsy is invasive and does present risks, including but not limited to severe infection inside the eye, retinal detachment, bleeding inside the eye, and possible permanent loss of vision. There is also a very small chance that the tumor could escape the eye wall and seed the skin layer of the eye (conjunctiva) or the orbit.