Interpretations of the Term “Actionable” when Discussing Genetic Test Results: What you Mean Is Not What I Heard

Abstract

In genomic medicine, the familiarity and inexactness of the term "actionable" can lead to multiple interpretations and mistaken beliefs about realistic treatment options. As part of a larger study focusing on public attitudes toward policies for the return of secondary genomic results, we looked at how members of the lay public interpret the term "medically actionable" in the context of genetic testing. We also surveyed a convenience sample of oncologists as part of a separate study and asked them to define the term "medically actionable." After being provided with a definition of the term, 21 out of 60 (35%) layperson respondents wrote an additional action not specified in the provided definition (12 mentioned "cure" and 9 mentioned environment or behavioral change) and 17 (28%) indicated "something can be done" with no action specified. In contrast, 52 surveyed oncologists did not mention environment, behavioral change, or cure. Based on our findings, we propose that rather than using the term "actionable" alone, providers should also say "what they mean" to reduce miscommunication and confusion that could negatively impact medical decision-making. Lastly, to guide clinicians during patient-provider discussion about genetic test results, we provide examples of phrasing to facilitate clearer communication and understanding of the term "actionable."

Return of results in a global survey of psychiatric genetics researchers: practices, attitudes, and knowledge

“…31 Expanded notions of actionability have also been observed in other areas of genomics. 32,33 This conception of medical actionability, despite being broader than that we provided in the survey instructions, could help explain why many of the researchers who have returned findings report having returned medically actionable findings related to psychiatric disorders. This could also help explain why many of these researchers believe that findings related to genomic risks traditionally considered non-medically actionable, such as risk for Alzheimer and Huntington, in addition to PRS for psychiatric disorders, should be offered.…”

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals

“…Disclosure of UFs and/or SFs depends on whether an individual receiving the information can medically intervene in the process related to the disorder to which the variant predisposes. The term medical actionability has been criticized for its inexactness [ 33 ], leading to multiple interpretations and misinterpretations of health-care-related expectations.…”

GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing

“…If some of those words are present in the clinical report, the provider may want to spend more time defining them or simply avoid them all together. For instance, our study revealed that only 33% of participants recognized the word 'actionability' as real, highlighting the relevance of a recent paper on the importance of defining the word 'actionable' to patients and clinicians (Gornick et al, 2019). On the other hand, some jargon may be avoided altogether, as words like 'penetrance' and 'pathogenicity' were recognized by less than 50% of participants.…”