I have posted previous notes discussing incidentalomas (see: How to Avoid the Risks of a CT Incidentaloma; More (and Interesting) Discussion about Incidentalomas; How to Avoid the Risks of a CT Incidentaloma). They are commonly discovered by imaging studies such as CT scans or MRI and are unrelated to the reason for initially ordering the procedure. They are benign lesions that are frequently better unreported. The test ordering physician may feel compelled to treat then which can lead to complications that could have been avoided. Incidental or secondary findings may also be discovered in research projects or clinical trials. There is also a high likelihood that some direct-to-consumer genomic testing may reveal the presence of genetic defects, recently referred to as the incidentalome (see: Introducing the Incidentalome; Implications of Whole Genome Scanning). A Presidential Commission has just issued a report addressing such incidental and secondary findings (see: The Right to Know—or Not). Below is an excerpt from an article about this topic:
[T]he Presidential Commission for the Study of Bioethical Issues [has] issued a report containing recommendations for dealing with incidental or secondary findings uncovered in the direct-to-consumer (DTC), clinical, and research settings. “The importance of incidental findings, and the problem, is only increasing in magnitude,” commission member Stephen Hauser told reporters this week. “Each of us has scores of deleterious mutations in our genes and these will be picked up every time a whole-genome sequence is obtained.” And high-resolution imaging techniques often uncover unexpected abnormalities, he noted. What to do about unexpected health-related findings “is an issue that affects everybody,” commission chair Amy Gutmann said during the press briefing. In their report, Gutmann, Hauser, and colleagues propose that DTC companies, clinicians, and researchers ought to anticipate incidental findings that could come up and communicate them before procedures or tests are administered....Earlier this year, the American College of Medical Genetics and Genomics (ACMG) released recommendations outlining 57 disease risk-associated genetic variants that it said patients ought to be made aware of were they to arise during whole-genome sequencing (see: Patients Should Always Receive Their Genomic Information According to Recent Report). In contrast, the Presidential Commission for the Study of Bioethical Issues...emphasized the patient’s right to choose what they would and would not like to learn as a result of such a test. The commission does advocate for the creation of such disease-risk lists, however, to help providers assess what types of incidental findings are most likely to arise and communicate those with patients. Gutmann stressed that her group’s report is far from the final word on incidental findings.
In my mind, these various reports do little to put to rest this controversy about what patients/consumers should or should not be informed about after imaging studies, clinical trials, or DTC genetic testing. The notion that physician or researchers should "anticipate incidental findings" or provide patients with "disease-risk lists" prior to tests and procedures strikes me as naive. Informed consent forms, while legally necessary and appropriate, are frequently glossed over by patients and consumers. As diagnostic tests and imaging procedures grow more sophisticated, the challenges of incidentalomas/incidentalomes will continue to grow. At least thus far, commissions and societies weighing in on these matters had not produced practical solutions. However, I don't have any practical solutions to offer either.
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