In the Journals

Survey: Most ocular cancer patients want prognosis for metastasis risk

J Genet Counsel. 2009;18(3):265-274.

Most patients with ocular melanoma said in a survey they would want to undergo genetic testing to determine the risk of their cancer spreading, according to a team of UCLA researchers.

"We learned that patients want to know their prognosis, good or bad, even when there are no treatments at present for their condition," Tara McCannel, MD, PhD, researcher and director of the Ophthalmic Oncology Center at UCLA's Jules Stein Eye Institute, said in a UCLA news release.

The study included 99 choroidal melanoma patients who completed a questionnaire about prognostic information; 38 patients underwent prognostic genetic testing.

Ninety-eight respondents said they would have wanted to undergo predictive genetic testing at the time of treatment. One patient expressed disinterest in genetic testing. Also, 98 respondents said supportive counseling should be offered when patients receive test results.

"We were surprised to see such a unanimous response," Dr. McCannel said in the release. "We expected some patients would prefer not to know, but the numbers consistently said otherwise."


Several ocular oncology centers internationally offer genetic testing for uveal melanoma. Over the past 2 decades, it has become apparent that numerous chromosomal alterations are related to the development of uveal melanoma and metastasis, but the most important has proven to be loss of chromosome 3, termed monosomy 3.

Not all patients are interested in genetic information. In our practice of ocular oncology, approximately 70% of uveal melanoma patients agree to genetic testing, and we have performed this evaluation in more than 600 patients. In this study, Beran and coworkers interviewed 99 patients with choroidal melanoma and found that 97% would have wanted genetic testing and counseling. However, only 38 had testing performed. Of 11 patients responding with written communication, those with monosomy 3 results found emotional preparedness for shortened future whereas those with normal disomy 3 results described relief. Similarly, in our practice, the relief with normal results can be immense.

– Carol L. Shields, MD
Co-Director, Oncology Service, Wills Eye Institute, Philadelphia