Patients with cancer seem to prefer to receive information regarding incidental germline variants found during the process of tumor profiling, a study published in the journal Cancer has shown.1

There is always the potential to detect germline variants while profiling the tumor of patients with cancer; however, there is limited evidence demonstrating how to handle these incidental findings. Therefore, researchers sought to evaluate disclosure preferences regarding incidental genomic variants discovered during tumor profiling among patients with cancer.

For the study, researchers administered a questionnaire to 413 patients receiving care in ambulatory oncology clinics. The survey included case scenarios for different types of incidental germline variants that could potentially be detected during genomic analysis of a patient’s tumor. These scenarios included results revealing variants of uncertain significance, genetic predispositions to serious but preventable conditions, and mutations that definitively cause serious, unpreventable diseases.

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Results showed that despite the possibility of discovering noncancer-related germline variants, patients were not deterred from tumor profiling.

Researchers found 77% of patients wanted to be told about variants that could increase their risk of a serious but preventable illness; 56% wanted to be informed concerning variants that cause a serious but unpreventable disease, and 49% wanted to know about germline variants of uncertain significance.

In terms of sharing the results, 75% indicated they would share hereditary information regarding a predisposition to preventable diseases with family, while 62% would share information about unpreventable illnesses.

The study also demonstrated that 48% and 41% were concerned that incidental findings would affect their ability to obtain health insurance and life insurance, respectively.

The findings ultimately suggest that personal preferences for the disclosure of different types of incidental findings be clarified prior to conducting genomic analyses of the patient’s tumor.


1. Yushak ML, Han G, Bouberhan S, et al. Patient preferences regarding incidental genomic findings discovered during tumor profiling [published online ahead of print March 11, 2016]. Cancer. doi:10.1002/cncr.29951.