Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Article
  • Published:

Exploring the potential usefulness of the GCOS-16 for expanded applications

European Journal of Human Genetics volume 33, pages 642–648 (2025)Cite this article

Subjects

Abstract

The Genetic Counselling Outcome Scale-24 (GCOS-24) measures empowerment reliably in the context of genetic services, but its potential utility is constrained by some of its features. Using Rasch Measurement Theory, the GCOS-16 was developed: eight items were removed and the Likert scale collapsed from seven response options to three. The GCOS-16 has improved performance, and potential for usefulness beyond its original design i.e., identifying/triaging patients who may benefit most, and comparing genetic counseling (GC) to non-GC interventions. In this study, using the GCOS-24 data collected from a psychiatric GC clinic, we aimed to use a statistical method to determine the minimal clinically important difference (MCID) of the GCOS-16, and to examine whether the GCOS-16, or any individual items or subdomains could be used to identify patients who would most benefit from GC. The GCOS-24 data (24-items, 7-point Likert scale) from 307 charts were transformed into the GCOS-16 scoring (16 items, 3-point Likert scale). The GCOS-16 scores increased from pre- to post-GC (p < 0.001, d = 0.935), and the MCID was determined to be an increase of 2.5 points. There were significant differences between pre- to post-GC for all items and subdomains except for item #6. Patients receiving in-person GC were more likely to meet the MCID than those receiving service by telephone or telehealth (p < 0.001). Our data demonstrate that the GCOS-16 is sensitive to change in empowerment without ceiling effects – this could be used to triage patients for GC, and to compare GC to non-GC interventions.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on SpringerLink
  • Instant access to the full article PDF.

USD 39.95

Prices may be subject to local taxes which are calculated during checkout

Fig. 1: Relationship between the baseline GCOS-16 scores and the change in GCOS-16 score after genetic counseling.

Similar content being viewed by others

Data availability

The data generated and analysed during this study are available within the published article and its supplementary files. Additional data are available from the corresponding author on reasonable request.

Code availability

The data generated and analysed during this study are available from the corresponding author on reasonable request.

References

  1. Valderas JM, Alonso J. Patient Reported Outcome Measures: A Model-Based Classification System for Research and Clinical Practice. Qual Life Res. 2008;17:1125–35.

    Article  PubMed  Google Scholar 

  2. McAllister M, Payne K, MacLeod R, Nicholls S, Donnai D, Davies L. Patient Empowerment in Clinical Genetics Services. J Health Psychol. 2008;13:895–905.

    Article  PubMed  Google Scholar 

  3. McAllister M, Wood A, Dunn G, Shiloh S, Todd C. The Genetic Counseling Outcome Scale: a new patient-reported outcome measure for clinical genetics services. Clin Genet. 2011;79:413–24.

    Article  CAS  PubMed  Google Scholar 

  4. McAllister M, Dearing A. Patient reported outcomes and patient empowerment in clinical genetics services. Clin Genet. 2015;88:114–21.

    Article  CAS  PubMed  Google Scholar 

  5. Davison N, Payne K, Eden M, McAllister M, Roberts SA, Ingram S, et al. Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example. Genet Med. 2017;19:1032–9.

    Article  PubMed  Google Scholar 

  6. Borle K, Morris E, Inglis A, Austin J. Risk communication in genetic counseling: Exploring uptake and perception of recurrence numbers, and their impact on patient outcomes. Clin Genet. 2018;94:239–45.

    Article  CAS  PubMed  Google Scholar 

  7. Palmer CGS, McConkie-Rosell A, Holm IA, LeBlanc K, Sinsheimer JS, Briere LC, et al. Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network. J Genet Couns. 2018;27:1087–101.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Slomp C, Morris E, Inglis A, Lehman A, Austin J. Patient outcomes of genetic counseling: Assessing the impact of different approaches to family history collection. Clin Genet. 2018;93:830–6.

    Article  CAS  PubMed  Google Scholar 

  9. Costal Tirado A, McDermott AM, Thomas C, Ferrick D, Harris J, Edwards A, et al. Using Patient-Reported Outcome Measures for Quality Improvement in Clinical Genetics: an Exploratory Study. J Genet Couns. 2017;26:1017–28.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Grant PE, Pampaka M, Payne K, Clarke A, McAllister M. Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale. Eur J Med Genet. 2019;62:324–34.

    Article  PubMed  Google Scholar 

  11. Diness BR, Overbeck G, Hjortshøj TD, Hammer TB, Timshel S, Sørensen E, et al. Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark. J Genet Couns. 2017;26:1080–9.

    Article  PubMed  Google Scholar 

  12. Muñoz-Cabello P, García-Miñaúr S, Espinel-Vallejo ME, Fernández-Franco L, Stephens A, Santos-Simarro F, et al. Translation and Cross-Cultural Adaptation with Preliminary Validation of GCOS-24 for Use in Spain. J Genet Couns. 2018;27:732–43.

    Article  PubMed  Google Scholar 

  13. Voorwinden JS, Plantinga M, Krijnen W, Ausems M, Knoers N, Velthuizen M, et al. A validated PROM in genetic counselling: the psychometric properties of the Dutch version of the Genetic Counselling Outcome Scale. Eur J Hum Genet. 2019;27:681–90.

    Article  PubMed  PubMed Central  Google Scholar 

  14. Yuen J, Lee SY, Courtney E, Lim J, Soh H, Li ST, et al. Evaluating empowerment in genetic counseling using patient-reported outcomes. Clin Genet. 2020;97:246–56.

    Article  CAS  PubMed  Google Scholar 

  15. Segundo-Ribeiro M, Bacalá BT, Alvarenga WdeA, Nascimento LC, McAllister M, Flória-Santos M. Adaptation and preliminary validation of the genetic counseling outcome scale (GCOS-24) in a Brazilian genetic counseling setting. Eur J Med Genet. 2020;63:104018.

    Article  PubMed  Google Scholar 

  16. Yusuf A, Peltekova I, Savion-Lemieux T, Frei J, Joober R, Howe J, et al. Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions. J Genet Couns. 2021;30:305–18.

    Article  PubMed  Google Scholar 

  17. Redondo L, McAllister M. Cross-cultural adaptation of the Genetic Counseling Outcome Scale (GCOS-24) for use in Canada: A qualitative study. J Genet Couns. 2024;33:623–42.

    Article  PubMed  Google Scholar 

  18. Gerrard S, Inglis A, Morris E, Austin J. Relationships between patient- and session-related variables and outcomes of psychiatric genetic counseling. Eur J Hum Genet. 2020;28:907–14.

    Article  PubMed  PubMed Central  Google Scholar 

  19. Inglis A, Koehn D, McGillivray B, Stewart SE, Austin J. Evaluating a unique, specialist psychiatric genetic counseling clinic: uptake and impact. Clin Genet. 2015;87:218–24.

    Article  CAS  PubMed  Google Scholar 

  20. Morris E, Best J, Inglis A, Austin J. Impact of the physical environment on patient outcomes of genetic counseling: An exploratory study. J Genet Couns. 2019;28:760–6.

    Article  PubMed  Google Scholar 

  21. Borle K, Austin J, Barbic S. Using Rasch measurement theory to explore the fitness for purpose of the genetic counseling outcome scale: a tale of two scales. Qual Life Res. 2023;32:895–904.

    Article  PubMed  Google Scholar 

  22. Norman GR, Sloan JA, Wyrwich KW. Interpretation of Changes in Health-related Quality of Life: The Remarkable Universality of Half a Standard Deviation. Med Care. 2003;41:582–92.

    Article  PubMed  Google Scholar 

  23. Franceschini M, Boffa A, Pignotti E, Andriolo L, Zaffagnini S, Filardo G. The Minimal Clinically Important Difference Changes Greatly Based on the Different Calculation Methods. Am J Sports Med. 2023;51:1067–73.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

The authors offer gratitude to the Coast Salish Peoples, including the xʷməθkwəy̓əm (Musqueam), Skwxwú7mesh (Squamish), and Səl̓ílwətaʔ/Selilwitulh (Tsleil-Waututh) Nations, on whose traditional, unceded and ancestral territory we have the privilege of working. JA was supported by the BC Mental Health and Substance Use Services Research Institute. The authors thank the members of the TGRC for their support. This research was conducted to fulfill the MSc requirement at the University of British Columbia by the first author.

Funding

This research did not have funding support.

Author information

Authors and Affiliations

  1. Department of Medical Genetics, Genetic Counseling Program, University of British Columbia, Vancouver, BC, Canada

    Yvette Kuo

  2. Faculty of Graduate and Postdoctoral Studies, Interdisciplinary Studies Program, University of British Columbia, Vancouver, BC, Canada

    Kennedy Borle

  3. Faculty of Medicine, Department of Medical Genetics, Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada

    Jehannine Austin

Authors
  1. Yvette Kuo
    View author publications

    Search author on:PubMed Google Scholar

  2. Kennedy Borle
    View author publications

    Search author on:PubMed Google Scholar

  3. Jehannine Austin
    View author publications

    Search author on:PubMed Google Scholar

Contributions

All authors contributed to the intellectual design, the drafting, revision, and final approval of the manuscript.

Corresponding author

Correspondence to Jehannine Austin.

Ethics declarations

Competing interests

The authors declare no competing interests.

Ethical approval

This study was approved by the BC Children and Women’s Research Ethics Board (H15-02632).

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kuo, Y., Borle, K. & Austin, J. Exploring the potential usefulness of the GCOS-16 for expanded applications. Eur J Hum Genet 33, 642–648 (2025). https://doi.org/10.1038/s41431-025-01830-z

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Version of record:

  • Issue date:

  • DOI: https://doi.org/10.1038/s41431-025-01830-z

This article is cited by

Search

Advanced search

Quick links