What is the psychological impact when doing genetic testing?
I have noticed more attention paid by the press, some of my patients and social media to multigene panel testing (MPT), which determines whether a person has certain illness-related genes. Separately, on Instagram, celebrities tout the benefits of another diagnostic technique – whole body MRIs – to scan for hundreds of different kinds of cancers and diseases. This has made me wonder about the psychological effects of these types of self-evaluative processes.
MPT involves using next-generation technology to determine the sequence of multiple cancer-susceptibility genes. In addition to high-penetrance cancer-susceptibility genes, multigene panels frequently include genes that are less robustly associated with cancer predisposition.
Because this kind of testing is not limited to one kind of cancer, patients provide broad consent for all genes included in a particular panel and then, after the test, receive in-depth genetic counseling to clarify the distinct implications of their specific results.
In the past, genetic testing was typically employed after clinicians ascertained the patient’s phenotype and personal or family cancer history. This is called a serial genetic testing process and starts with the most likely mutation connected to a specific cancer. Now, with MPT, more information is gathered that can identify a broad range of cancer risk factors.
The key question is: are people properly prepared to learn and digest all of the information and highlighted risks for disease in the body that derive from MPT, with limited counseling and only a cursory understanding of the results. A critical concern is whether this leads to more acute anxiety, depression, and worry, and if the counselors are skilled enough to anticipate these risks?
The limited research thus far shows mixed results and mixed evidence about whether current approaches to genetic counseling, education and testing are effective in changing individuals’ perceptions of their vulnerability to cancer. What seems clear to me is that MPT necessitates a different approach to patient education, genetic counseling and informed consent for testing, especially because patients can receive unexpected results that are inconsistent with their personal or family cancer history, and for which they may be psychologically unprepared.