Skip to main content
SpringerLink
Log in

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

  • Original Research
  • Published:
Journal of Genetic Counseling

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.”

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Figure 1.

Similar content being viewed by others

References

  • American College of Medical Genetics and Genomics. (2013). Incidental findings in clinical genomics: a clarification. Genetics in Medicine, 15(8), 664–666.

    Article  Google Scholar 

  • Ananda, G., Mockus, S., Lundquist, M., Spotlow, V., Simons, A., Mitchell, T., & Srivastava, A. (2015). Development and validation of the JAX Cancer Treatment Profile™ for detection of clinically actionable mutations in solid tumors. Experimental and Molecular Pathology, 98(1), 106–112.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Astor, J. (2011). Saying what you mean, meaning what you say: language, interaction and interpretation. Journal of Analytical Psychology, 56(2), 203–216.

    Article  PubMed  Google Scholar 

  • Berg, J. S., Amendola, L. M., Eng, C., Van Allen, E., Gray, S. W., Wagle, N., & Hisama, F. M. (2013). Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the clinical sequencing exploratory research consortium. Genetics in Medicine, 15(11), 860–867.

    Article  PubMed  PubMed Central  Google Scholar 

  • Berkman, N. D., Sheridan, S. L., Donahue, K. E., Halpern, D. J., Viera, A., Crotty, K., & Harden, E. (2011). Health literacy interventions and outcomes: an updated systematic review. Evidence report/technology assessment, 199, 1–941.

    Google Scholar 

  • Bieg-Bourne, C. C., Millis, S. Z., Piccioni, D. E., Fanta, P. T., Goldberg, M. E., Chmielecki, J., & Kurzrock, R. (2017). Next-generation sequencing in the clinical setting clarifies patient characteristics and potential actionability. Cancer Research, 77(22), 6313–6320.

    Article  PubMed  CAS  Google Scholar 

  • Biesecker, L. G., & Green, R. C. (2014). Diagnostic clinical genome and exome sequencing. New England Journal of Medicine, 370(25), 2418–2425.

    Article  PubMed  CAS  Google Scholar 

  • Butler, T. M., Johnson-Camacho, K., Peto, M., Wang, N. J., Macey, T. A., Korkola, J. E., & Spellman, P. T. (2015). Exome sequencing of cell-free DNA from metastatic cancer patients identifies clinically actionable mutations distinct from primary disease. PLoS One, 10(8), e0136407.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Carr, T. H., McEwen, R., Dougherty, B., Johnson, J. H., Dry, J. R., Lai, Z., & Cruzalegui, F. (2016). Defining actionable mutations for oncology therapeutic development. Nature Reviews Cancer, 16(5), 319–329.

    Article  PubMed  CAS  Google Scholar 

  • Centers for Disease Control and Prevention. (2016). Health Literacy. Retrieved from http://www.cdc.gov/healthliteracy/

  • Cimino, J. J. (1993). Saying what you mean and meaning what you say: coupling biomedical terminology and knowledge. Academic Medicine, 68(4), 257–260.

    Article  PubMed  CAS  Google Scholar 

  • Clayman, M. L., Bylund, C. L., Chewning, B., & Makoul, G. (2016). The impact of patient participation in health decisions within medical encounters: a systematic review. Medical Decision Making, 36(4), 427–452.

    Article  PubMed  Google Scholar 

  • Damodaran, S., Miya, J., Kautto, E., Zhu, E., Samorodnitsky, E., Datta, J., & Roychowdhury, S. (2015). Cancer driver log (CanDL): catalog of potentially actionable cancer mutations. The Journal of Molecular Diagnostics, 17(5), 554–559.

    Article  PubMed  CAS  Google Scholar 

  • Desmond, A., Kurian, A. W., Gabree, M., Mills, M. A., Anderson, M. J., Kobayashi, Y., & Tung, N. (2015). Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. JAMA Oncology, 1(7), 943–951.

    Article  PubMed  Google Scholar 

  • Douglas, M. P., Ladabaum, U., Pletcher, M. J., Marshall, D. A., & Phillips, K. A. (2016). Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review. Genetics in Medicine, 18(2), 111–116.

    Article  PubMed  Google Scholar 

  • Fagerlin, A., Zikmund-Fisher, B. J., & Ubel, P. A. (2011). Helping patients decide: ten steps to better risk communication. Journal of the National Cancer Institute, 103(19), 1436–1443.

    Article  PubMed  PubMed Central  Google Scholar 

  • Fantry, A. (2016). A piece of mind. Say what you mean, mean what you say. Journal of the American Medical Association, 315(13), 1337–1338.

    Article  PubMed  Google Scholar 

  • Ferrarotto, R., Heymach, J. V., & Glisson, B. S. (2016). MYB-fusions and other potential actionable targets in adenoid cystic carcinoma. Current Opinion in Oncology, 28(3), 195–200.

    Article  PubMed  CAS  Google Scholar 

  • Gomes, C. F. A., & Brainerd, C. J. (2012). Dual processes in the development of reasoning: The memory side of the story. In J. Gauffroy & P. Barrouillet (Eds.), The development of thinking and reasoning. New York: Psychology Press.

    Google Scholar 

  • Gornick, M. C., Scherer, A. M., Sutton, E. J., Ryan, K. A., Exe, N. L., Li, M., & De Vries, R. G. (2017). Effect of public deliberation on attitudes toward return of secondary results in genomic sequencing. Journal of Genetic Counseling, 26(1), 122–132.

    Article  PubMed  Google Scholar 

  • Green, R. C., Berg, J. S., Berry, G. T., Biesecker, L. G., Dimmock, D. P., Evans, J. P., & Korf, B. R. (2012). Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genetics in Medicine, 14(4), 405–410.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., & Ormond, K. E. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15(7), 565–574.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Green, R. C., Goddard, K. A., Jarvik, G. P., Amendola, L. M., Appelbaum, P. S., Berg, J. S., & Blout, C. L. (2016). Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine. The American Journal of Human Genetics, 98(6), 1051–1066.

    Article  PubMed  CAS  Google Scholar 

  • Hawley, S. T., Zikmund-Fisher, B., Ubel, P., Jancovic, A., Lucas, T., & Fagerlin, A. (2008). The impact of the format of graphical presentation on health-related knowledge and treatment choices. Patient Education and Counseling, 73(3), 448–455.

    Article  PubMed  Google Scholar 

  • Jarvik, G. P., & Evans, J. P. (2016). Mastering genomic terminology. Genetics in Medicine, 19(5), 491–492.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Kalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C., Evans, J. P., & Miller, D. T. (2017). Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2. 0): a policy statement of the American College of Medical Genetics and Genomics. Genetics in Medicine, 19(2), 249–255.

    Article  PubMed  Google Scholar 

  • Kraft, S. A., Cho, M. K., Gillespie, K., Halley, M., Varsava, N., Ormond, K. E., & Soo-Jin Lee, S. (2018). Beyond consent: building trusting relationships with diverse populations in precision medicine research. The American Journal of Bioethics, 18(4), 3–20.

    Article  PubMed  Google Scholar 

  • Lafata, J. E., Shay, L. A., & Winship, J. M. (2017). Understanding the influences and impact of patient-clinician communication in cancer care. Health Expectations, 20(6), 1385–1392.

    Article  PubMed  PubMed Central  Google Scholar 

  • Manolio, T. A., Chisholm, R. L., Ozenberger, B., Roden, D. M., Williams, M. S., Wilson, R., & Eng, C. (2013). Implementing genomic medicine in the clinic: the future is here. Genetics in Medicine, 15(4), 258–267.

    Article  PubMed  PubMed Central  Google Scholar 

  • Merriam-Webster. (2018). Actionable. Retrieved from http://www.merriam-webster.com/dictionary/actionable

  • Middha, S., Baheti, S., Hart, S. N., & Kocher, J.-P. A. (2014). From days to hours: reporting clinically actionable variants from whole genome sequencing. PLoS One, 9(2), e86803.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Nickerson, R. S. (1999). How we know—and sometimes misjudge—what others know: imputing one’s own knowledge to others. Psychological Bulletin, 125(6), 737–759.

    Article  Google Scholar 

  • O'Daniel, J. M., McLaughlin, H. M., Amendola, L. M., Bale, S. J., Berg, J. S., Bick, D., & Rehm, H. L. (2017). A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genetics in Medicine, 19(5), 575–582.

    Article  PubMed  Google Scholar 

  • Plain Language Association International. (2016). What is plain language? Retrieved from http://plainlanguagenetwork.org/plain-language/what-is-plain-language/

  • Pritchard, C. C., Salipante, S. J., Koehler, K., Smith, C., Scroggins, S., Wood, B., & Adey, A. (2014). Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens. The Journal of Molecular Diagnostics, 16(1), 56–67.

    Article  PubMed  CAS  Google Scholar 

  • Ramos, E. M., Din-Lovinescu, C., Berg, J. S., Brooks, L. D., Duncanson, A., Dunn, M., & O'Donnell, C. (2014). Characterizing genetic variants for clinical action. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 166(1), 93–104.

    Article  Google Scholar 

  • Reyna, V. F., & Brainerd, C. J. (1995). Fuzzy-trace theory: an interim synthesis. Learning and Individual Differences, 7(1), 1–75.

    Article  Google Scholar 

  • Rudd, R. E., Kaphingst, K., Colton, T., Gregoire, J., & Hyde, J. (2004). Rewriting public health information in plain language. Journal of Health Communication, 9(3), 195–206.

    Article  PubMed  Google Scholar 

  • Ryan, K. A., De Vries, R. G., Uhlmann, W. R., Roberts, J. S., & Gornick, M. C. (2017). Public’s views toward return of secondary results in genomic sequencing: It’s (almost) all about the choice. Journal of Genetic Counseling, 26(6), 1197–1212.

    Article  PubMed  Google Scholar 

  • Schwaederle, M., Husain, H., Fanta, P. T., Piccioni, D. E., Kesari, S., Schwab, R. B., & Parker, B. A. (2016). Detection rate of actionable mutations in diverse cancers using a biopsy-free (blood) circulating tumor cell DNA assay. Oncotarget, 7(9), 9707–9717.

    Article  PubMed  PubMed Central  Google Scholar 

  • Shay, L. A., & Lafata, J. E. (2014). Understanding patient perceptions of shared decision making. Patient Education and Counseling, 96(3), 295–301.

    Article  PubMed  PubMed Central  Google Scholar 

  • Shirts, B. H., Salama, J. S., Aronson, S. J., Chung, W. K., Gray, S. W., Hindorff, L. A., & Tarczy-Hornoch, P. Z. (2015). CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. Journal of the American Medical Informatics Association, 22(6), 1231–1242.

    PubMed  PubMed Central  Google Scholar 

  • Sukhai, M. A., Craddock, K. J., Thomas, M., Hansen, A. R., Zhang, T., Siu, L., & Kamel-Reid, S. (2016). A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer. Genetics in Medicine, 18(2), 128–136.

    Article  PubMed  CAS  Google Scholar 

  • Tait, A. R., Zikmund-Fisher, B. J., Fagerlin, A., & Voepel-Lewis, T. (2010). Effect of various risk/benefit trade-offs on parents’ understanding of a pediatric research study. Pediatrics, 125(6), e1475–e1482.

    Article  PubMed  PubMed Central  Google Scholar 

  • Thierry, A., El Messaoudi, S., Mollevi, C., Raoul, J., Guimbaud, R., Pezet, D., & Mathonnet, M. (2017). Clinical utility of circulating DNA analysis for rapid detection of actionable mutations to select metastatic colorectal patients for anti-EGFR treatment. Annals of Oncology, 28(9), 2149–2159.

    Article  PubMed  CAS  Google Scholar 

  • Vandekerkhove, G. R., Todenhöfer, T., Annala, M., Struss, W. J., Wong, A., Beja, K., & Hennenlotter, J. (2017). Circulating tumor DNA reveals clinically-actionable somatic genome of metastatic bladder cancer. Clinical Cancer Research, 23(21), 6487–6497.

    Article  PubMed  CAS  Google Scholar 

  • Vidwans, S. J., Turski, M. L., Janku, F., Garrido-Laguna, I., Munoz, J., Schwab, R., & Kurzrock, R. (2014). A framework for genomic biomarker actionability and its use in clinical decision making. Oncoscience, 1(10), 614–623.

    Article  PubMed  PubMed Central  Google Scholar 

  • Wong, S., Fellowes, A., Doig, K., Ellul, J., Bosma, T., Irwin, D., & Chan, K. (2015). Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients. British Journal of Cancer, 112(8), 1411–1420.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Wyatt, A. W., Azad, A. A., Volik, S. V., Annala, M., Beja, K., McConeghy, B., & Brahmbhatt, S. (2016). Genomic alterations in cell-free DNA and enzalutamide resistance in castration-resistant prostate cancer. JAMA Oncology, 2(12), 1598–1606.

    Article  PubMed  PubMed Central  Google Scholar 

  • Yuan, Y., Liu, L., Chen, H., Wang, Y., Xu, Y., Mao, H., & Li, L. (2016). Comprehensive characterization of molecular differences in cancer between male and female patients. Cancer Cell, 29(5), 711–722.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Zikmund-Fisher, B. J. (2017). When “actionable” genomic sequencing results cannot be acted upon. JAMA Oncology, 3(7), 891–892.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

The work was supported by the National Human Genome Research Institute Clinical Sequencing Exploratory Research Consortium grant 1UM1HG006508. We would also like to thank all of the participants who completed surveys and participated in our deliberative event.

Author information

Authors and Affiliations

  1. Center for Bioethics and Social Sciences in Medicine, University of Michigan Medical School, 2800 Plymouth Road, Building 14, G016, Ann Arbor, MI, 48109-2800, USA

    Michele C. Gornick, Kerry A. Ryan, J. Scott Roberts, Raymond G. De Vries & Wendy R. Uhlmann

  2. Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, USA

    Michele C. Gornick & Wendy R. Uhlmann

  3. Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, IA, USA

    Aaron M. Scherer

  4. Department of Health Behavior & Health Education, School of Public Health, University of Michigan, Ann Arbor, MI, USA

    J. Scott Roberts

  5. Department of Learning Health Sciences, University of Michigan Medical School, Ann Arbor, MI, USA

    Raymond G. De Vries

  6. Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA

    Wendy R. Uhlmann

Authors
  1. Michele C. Gornick
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Kerry A. Ryan
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Aaron M. Scherer
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. J. Scott Roberts
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Raymond G. De Vries
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Wendy R. Uhlmann
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

All authors participated substantively in the preparation of the manuscript. MG contributed to study design, developed the surveys, was primarily responsible for analysis and interpretation of the data, and for writing the manuscript. KR contributed to study design, developed the surveys, substantially supported analysis and interpretation of the data, and edited and revised the manuscript. WU was also involved in interpretation of the data. AS contributed to study design, developed the surveys, substantially supported analysis and interpretation of the data, and edited and revised the manuscript. JSR contributed to study design, provided insight into relevant literature, supported the analysis and interpretation of the data, and edited and revised the manuscript. RD contributed to study design and data collection process, and critically revised the manuscript. WU was primarily responsible for conceptualization, study design and data collection process, and critically revised the manuscript. All authors read and approved the final manuscript and agree to be accountable for all aspects of the work.

Corresponding author

Correspondence to Michele C. Gornick.

Ethics declarations

Conflict of Interest

Michele Gornick, Kerry Ryan, Aaron Scherer, Scott Roberts, Raymond De Vries, and Wendy Uhlmann declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures performed in studies involved human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki and its later amendments or comparable ethical standards. This study was deemed exempt from federal regulations by the University of Michigan’s Institutional Review Board.

Animal Studies

No animal studies were carried out by the authors for this article.

Disclaimer

The sponsor had no role in the study design, collection, analysis, or interpretation of data; writing of the report; or the decision to submit paper for publication. The ideas and opinions expressed in this paper do not represent any position or policy of the National Institutes of Health, the Department of Health and Human Services, or the U.S. government.

Electronic supplementary material

ESM 1

(DOCX 11.5 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Gornick, M.C., Ryan, K.A., Scherer, A.M. et al. Interpretations of the Term “Actionable” when Discussing Genetic Test Results: What you Mean Is Not What I Heard. J Genet Counsel (2018). https://doi.org/10.1007/s10897-018-0289-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1007/s10897-018-0289-6

Keywords

Search

Navigation