In radiology as in medical genomics, patient preferences should guide decisions around incidental findings

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 - DNAinHand

Incidental and secondary findings are on the rise, thanks largely to advances in diagnostic technologies and adoptions of value-based practice incentives. As such findings increasingly confound patients as well as clinicians—not to mention medical ethicists and malpractice courts—radiology would do well to follow discussions going on in the field of genetic testing.

Stella Kang, MD, of the departments of radiology and population health at NYU and colleagues have done that. Their observations were posted online Aug. 29 in the Journal of the American College of Radiology.

In medical genetics, the authors point out, the current emphasis is on engaging with patient preferences before results are generated and returned to the clinician.

“The rich history and literature of genetic incidental and secondary findings can reveal parallels for handling incidental findings in radiology,” they write, noting that, in exome sequencing and genome sequencing, incidental and secondary findings fall into three major categories:

  1. Those that are medically actionable or have evidence-based management recommendations and interventions (e.g., BRCA variants associated with breast and ovarian cancer).
  2. Those with clinical validity for disease but that are not generally considered medically actionable (e.g., APOE alleles associated with Alzheimer’s disease).
  3. Those with little or no clinical validity for disease and harms (e.g., variants of unknown significance, which make up the majority of those generated).

“As radiologists act in patients’ best interests by strengthening standardized guidelines on how each finding merits further diagnostic testing or treatment,” the authors write, “perhaps the greatest challenge for producing such guidelines is for low-risk incidental findings, for which adverse consequences are unlikely but associated with substantial uncertainty because of the lack of strong evidence on which to base the recommendations.”

To best deal with such ambiguity, Kang et al. call for investigating ways that patients cope so as to help guide the formation of more uniform practice guidelines.

“More uniform recommendations for managing low-risk radiologic incidental findings should … aim to provide reasonable options that apply across a spectrum of patient preferences,” they write. “These will require evaluation through research and will ultimately influence the quality of care.”

Specific areas for exploration, they suggest, might include:

  • How to create better gauges of patient attitudes and preferences in incidental findings, whereby clinicians would prepare patients through counseling for the general range of possibilities in terms of levels of evidence and types of disease, and in further management decisions once the results are received.
  • How to use patient preferences to inform a set of more uniform practice guidelines for low-risk findings that would apply across a spectrum of preferences and guide shared decision making.
  • How to ascertain whether diagnostic imaging professional standards might evolve to exclude some by-product findings, particularly when patients endorse an informed preference not to discover low-risk incidental findings.

Citing the Presidential Commission for the Study of Bioethical Issues, which has recommended that physicians ask patients ahead of testing how much they want to know about unexpected findings, the authors underscore that low-risk diagnostic and genetic findings alike “can create an emotional, financial and health-related burden for patients and ordering physicians to manage.”

Efforts to address challenges around genetic incidental and secondary findings “may deserve attention as radiology’s approach to such findings also evolves,” the authors conclude. “Further study of the benefits and harms of incidental and secondary findings with involvement by radiologists may inform more uniform and comprehensive clinical practice guidelines.”

For low-risk or very low-risk incidental findings, “improved practice guidelines with consensus recommendations may aim to provide reasonable management options that apply across a spectrum of patient preferences.”