By Ellen Wright Clayton
Findings from genetic tests are not static; as knowledge advances, our understanding of the implications of these results evolves.
But what this means for physicians and their duties to patients is unresolved, as I explain with co-authors in a new article in Genetics in Medicine, the official journal of the ACMG.
There is an increasing drumbeat of support for an ethical and legal duty for physicians to reinterpret genetic test results and re-contact patients about these new understandings to improve their care.
Currently, reviewing prior medical records is by no means routine. Clinicians may review past records if they suspect that they have missed something as symptoms evolve, or that the significance of a symptom or biomarker may have changed because of new research.
In this case, the physician will either reexamine the interpretation of previously discovered variants on their own, or request that the laboratory do so. When the lab reexamines the patient’s prior test result as requested, it will know any new relevant clinical information from the patient and where to send the reclassification result. The physician and patient will expect the result, and the physician will act in accordance with the governing standard of care.
Thus, the ethical and legal analysis here is fairly straightforward. A more difficult situation arises when the laboratory, particularly those outside the ordering clinician’s institution, initiates the genetic test reclassification without request from the physician or patient.
In this instance, without the benefit of updated clinical data from the physician, the outside laboratory cannot place the variant information in clinical context. These laboratories typically do not have legal obligations to return results directly to patients, and, in fact, rarely have the needed contact information. A few laboratories have set up portals to communicate directly with patients, thereby assuming an obligation to convey results without negligence or violation of the standard of care. But since neither the patient nor the physician will know that this reclassification is occurring, they have no reason to look for a new report.
In most cases, however, any revised report will be sent to the (original) ordering physician, who may or may not see it, depending on the structure of the medical record, or act on it, given the press of other obligations. If the ordering physician is no longer involved in the patient’s care, or even working in the same practice, it may not be clear who will receive or be responsible for dealing with the result. Clinicians who assumed care after the test was initially conducted may not even be aware that it was done, as was asserted by some physicians in Williams v. Quest Diagnostics, a case alleging misclassification of a variant in a gene associated with epilepsy.
And here is the rub — once the laboratory returns the revised result to the clinician or institution that initially ordered it, it will be up to the recipient to ensure that the results get to and are seen by the patient and the clinician who is currently providing care. Whether the recipient of these new results is legally required to make this happen, and if so, how long this duty lasts, and what steps it must take in this often time-consuming and at times unsuccessful endeavor is not yet clear, but enthusiasm for imposing this responsibility is strong. And if effective communication does not occur, the results will sit in the medical record, a potential source of liability for clinicians to whom the results were returned and their institutions when patients claim that they suffered harms from not learning of a variant reclassification.
Ellen Wright Clayton, MD, JD, is the Craig-Weaver Professor of Pediatrics, Professor of Law, Professor of Health Policy, and Co-Founder of the Center for Biomedical Ethics and Society at Vanderbilt University.