The recommendations reflect a core principle of professional medical ethics: The decision about appropriate scope of analysis and judgments about which findings are clinically beneficial are matters of expert professional judgment. Patients retain the decisional right to decline clinical sequencing, but, as is true for other diagnostic and screening procedures, the decision about the minimum list of genes to be interrogated requires professional expertise (4
). Some have characterized this as borderline coercive (5
) and testing without informed consent (6
). This incorrectly assumes that analysis of clinically beneficial incidental findings is a discrete test requiring separate consent, whereas in reality it is integral to the primary interrogation. WGS-WES constitute a single comprehensive assessment using complex analytic algorithms for interpretation. The recommendations state that the ordering clinician is responsible for obtaining informed consent for this test and providing both pretest and posttest counseling “so that the patient is aware of not only the implications and limitations of the primary testing, but also the analysis that is being performed for incidental findings” (1
). In other words, consistent with the ethical standards of informed consent and the principle of respect for patient autonomy (7
), patients should be informed of the benefits of testing, as well as its risks and alternatives.
The recommendations’ ethical standard for informed consent actually exceeds the legal standard in most states. Most diagnostic and risk assessment evaluations, including genetic testing in the majority of states (8
), are performed under a general, simple consent to treat, because it is justifiably assumed that a reasonable patient would agree to a comprehensive evaluation to identify clinically beneficial information.
Some mistakenly infer from the recommendations that patients have no choice about which results they receive, thus violating a patient’s right not to know. The right not to know is ethically controversial, and most of the relevant literature relates to findings for which no clearly beneficial interventions are available (9
). Nonetheless, the recommendations explicitly state that the clinician-patient interaction is the appropriate place for incidental findings to be managed (1
). Although the recommendations set a minimum standard for analysis and reporting, the physician and patient may decide together whether additional analyses and disclosures would be beneficial. There may be rare circumstances in which a physician, in consultation with the patient, decides not to follow the recommendations; for example, where WGS-WES will likely be beneficial to the patient for his or her primary clinical concern, no other test alternative is available (e.g., targeted testing is unavailable, has been tried, or is too expensive), and the patient insists that he or she does not want to be informed about incidental findings, even if disclosure could lead to beneficial intervention. When this occurs, the clinician must ensure that the patient’s refusal is informed. If refusal persists, and the clinician agrees not to follow the recommendations, then the clinician should document this as a deviation from recommended analysis and disclosure, equivalent to refusing disclosure of any other clinically significant information. The clinician should inform the patient about practical constraints, including the difficulty of keeping the laboratory report out of the electronic medical record.