Abstract
Purpose
Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to support consistent reporting of design, development, delivery, and evaluation of genomics education interventions.
Methods
Draft standards were derived from literature (25 items from 21 publications). Thirty-six international experts were purposively recruited for three rounds of a modified Delphi process to reach consensus on relevance, clarity, comprehensiveness, utility, and design.
Results
The final standards include 18 items relating to development and delivery of genomics education interventions, 12 relating to evaluation, and 1 on stakeholder engagement.
Conclusion
These Reporting Item Standards for Education and its Evaluation in Genomics (RISE2 Genomics) are intended to be widely applicable across settings and health professions. Their use by those involved in reporting genomics education interventions and evaluation, as well as adoption by journals and policy makers as the expected standard, will support greater transparency, consistency, and comprehensiveness of reporting. Consequently, the genomics education evidence base will be more robust, enabling high-quality education and evaluation across diverse settings.
Access options
Subscribe to Journal
Get full journal access for 1 year
$399.00
only $33.25 per issue
All prices are NET prices.
VAT will be added later in the checkout.
Tax calculation will be finalised during checkout.
Rent or Buy article
Get time limited or full article access on ReadCube.
from$8.99
All prices are NET prices.



Data availability
Data are available in both the Results and Supplementary materials.
References
- 1.
Slade, I. & Burton, H. Preparing clinicians for genomic medicine. Postgrad. Med. J. 92, 369 (2016).
- 2.
Owusu Obeng, A. et al. Physician-reported benefits and barriers to clinical implementation of genomic medicine: a multi-site IGNITE-network survey. J. Pers. Med. 8, 24 (2018).
- 3.
White, S., Jacobs, C. & Phillips, J. Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care. Genet. Med. 22, 1149–1155 (2020).
- 4.
Amara, N., Blouin-Bougie, J., Bouthillier, D. & Simard, J. On the readiness of physicians for pharmacogenomics testing: an empirical assessment. Pharmacogenomics J. 18, 308–318 (2018).
- 5.
Al Bakir, I., Sebepos-Rogers, G. M., Burton, H. & Monahan, K. J. Mainstreaming of genomic medicine in gastroenterology, present and future: a nationwide survey of UK gastroenterology trainees. BMJ Open. 9, e030505 (2019).
- 6.
Nisselle, A. et al. Ensuring best practice in genomic education and evaluation: a program logic approach. Front. Genet. 10, 1057 (2019).
- 7.
Talwar, D., Tseng, T. S., Foster, M., Xu, L. & Chen, L. S. Genetics/genomics education for nongenetic health professionals: a systematic literature review. Genet. Med. 19, 725–732 (2017).
- 8.
Paneque, M., Turchetti, D., Jackson, L., Lunt, P., Houwink, E. & Skirton, H. A systematic review of interventions to provide genetics education for primary care. BMC Fam. Pract. 17, 89 (2016).
- 9.
Yarbrough, D. B., Shulha, L. M., Hopson, R. K. & Caruthers F. A. The Program Evaluation Standards: A Guide for Evaluators and Evaluation Users. (SAGE Publications, Thousand Oaks, 2010).
- 10.
Bossuyt, P. M. et al. STARD 2015: an updated list of essential items for reporting diagnostic accuracy studies. Clin. Chem. 61, 1446–1452 (2015).
- 11.
Schulz, K. F., Altman, D. G. & Moher, D. CONSORT 2010 statement: updated guidelines for reporting parallel group randomised trials. J. Pharmacol. Pharmacother. 1, 100–107 (2010).
- 12.
Ev, Elm, Altman, D. G., Egger, M., Pocock, S. J., Gøtzsche, P. C. & Vandenbroucke, J. P. Strengthening the reporting of observational studies in epidemiology (STROBE) statement: guidelines for reporting observational studies. Int. J. Surg. 12, 1495–1499 (2007).
- 13.
Tong, A., Sainsbury, P. & Craig, J. Consolidated criteria for reporting qualitative research (COREQ): a 32-item checklist for interviews and focus groups. Int. J. Qual. Health Care. 19, 349–357 (2007).
- 14.
Moher, D., Liberati, A., Tetzlaff, J. & Altman, D. G. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. PLoS Med. 6, e1000097 (2009).
- 15.
Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424 (2015).
- 16.
Popejoy, A. B. et al. Clinical genetics lacks standard definitions and protocols for the collection and use of diversity measures. Am. J. Hum. Genet. 107, 72–82 (2020).
- 17.
Hooker, G. W., Babu, D., Myers, M. F., Zierhut, H. & McAllister, M. Standards for the reporting of Genetic Counseling interventions in Research and Other Studies (GCIRS): an NSGC Task Force report. J. Genet. Couns. 26, 355–360 (2017).
- 18.
McKenna, H. P. The Delphi technique: a worthwhile research approach for nursing? J. Adv. Nurs. 19, 1221–1225 (1994).
- 19.
Phillips, A. C. et al. Development and validation of the guideline for reporting evidence-based practice educational interventions and teaching (GREET). BMC Med. Educ. 16, 237 (2016).
- 20.
Yarbrough, D. B. Developing the program evaluation utility standards: scholarly foundations and collaborative processes. Can. J. Program Eval. 31, 284–304 (2017).
- 21.
Arksey, H. & O’Malley, L. Scoping studies: towards a methodological framework. Int. J. Soc. Res. Methodol. 8, 19–32 (2005).
- 22.
Crellin, E., McClaren, B., Nisselle, A., Best, S., Gaff, C. & Metcalfe, S. Preparing medical specialists to practice genomic medicine: education an essential part of a broader strategy. Front. Genet. 10, 789 (2019).
- 23.
Reed, E. K. et al. What works in genomics education: outcomes of an evidenced-based instructional model for community-based physicians. Genet. Med. 18, 737–745 (2016).
- 24.
Paneque, M. et al. Implementing genetic education in primary care: the Gen-Equip programme. J. Community Genet. 8, 147–150 (2017).
- 25.
Carroll, J. C. et al. GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians. Fam. Pract. 28, 615–623 (2011).
- 26.
Houwink, E. J. et al. Sustained effects of online genetics education: a randomized controlled trial on oncogenetics. Eur. J. Hum. Genet. 22, 310–316 (2014).
- 27.
Houwink, E. J. et al. Effectiveness of oncogenetics training on general practitioners’ consultation skills: a randomized controlled trial. Genet. Med. 16, 45–52 (2014).
- 28.
Formea, C. M. et al. Development and evaluation of a pharmacogenomics educational program for pharmacists. Am. J. Pharm. Educ. 77, 10 (2013).
- 29.
Ha, V. T. D., Frizzo-Barker, J. & Chow-White, P. Adopting clinical genomics: a systematic review of genomic literacy among physicians in cancer care. BMC Med. Genomics. 11, 18 (2018).
- 30.
Jackson, L. et al. The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages. Genet. Med. 21, 718–726 (2019).
- 31.
MacDonald, G. Framework for Program Evaluation in Public Health: A Checklist of Steps and Standards. (Centers for Disease Control and Prevention, Atlanta, 2014).
- 32.
Australasian Evaluation Society. Guidelines for the Ethical Conduct of Evaluations. (Australian Evaluation Society, Melbourne, 2013).
- 33.
Brookes, S. T. et al. Three nested randomized controlled trials of peer-only or multiple stakeholder group feedback within Delphi surveys during core outcome and information set development. Trials. 17, 409 (2016).
- 34.
McClaren, B. J. Cystic Fibrosis Cascade Carrier Testing in Victoria, Australia. (The University of Melbourne, Melbourne, 2010).
- 35.
Paquette-Warren, J., Tyler, M., Fournie, M. & Harris, S. B. The Diabetes Evaluation Framework for Innovative National Evaluations (DEFINE): construct and content validation using a modified Delphi method. Can. J. Diabetes. 41, 281–296 (2017).
- 36.
Patton, M. Q. Qualitative Research & Evaluation Methods: Integrating Theory and Practice. (SAGE Publications, Thousand Oaks, 2014).
- 37.
Van Hecke, A., Duprez, V., Pype, P., Beeckman, D. & Verhaeghe, S. Criteria for describing and evaluating training interventions in healthcare professions—CRe-DEPTH. Nurse Educ. Today. 84, 104254 (2020).
- 38.
McClaren, B. J., King, E. A., Crellin, E., Gaff, C., Metcalfe, S. A. & Nisselle, A. Development of an evidence-based, theory-informed national survey of physician preparedness for genomic medicine and preferences for genomics continuing education. Front. Genet. 11, 59 (2020).
- 39.
Bloom, B. S., Krathwohl, D. R. & Masia, B. B. Bloom Taxonomy of Educational Objectives. (Pearson Education, Boston, 1984).
- 40.
Funnell, S. & Rogers, P. Purposeful Program Theory: Effective Use of Theories of Change and Logic Models. (John Wiley & Sons, San Francisco, 2011).
Acknowledgements
This work was supported by the Victorian Government’s Operational Infrastructure Support Program and a grant from the Australian National Health & Medical Research Council (GNT1113531). We thank Erin Crellin, The University of Melbourne, for her contributions to the early stages of this work.
Author information
Affiliations
Consortia
Contributions
Conceptualization: C.G., H.J., M.Martyn, S.M., A.N. Data curation: M.J., N.K. Formal analysis: M.J., A.N. Funding acquisition: C.G., S.M. Investigation: A,B., J.B., K.B.S., M.B., S.B., J.C., M.C., A.D., K.D., V.D., D.G., G.G., R.G., M.J., B.K., D.K., K.K., M.L., A.Ma, J.M., A. Mallett, M. McCarthy, A. McEwen, S.M., N.M., A.N., C.P., C.Q., E.R., K.R., A.S., I.S., V.S., B.T., E.S.T., E.T., S.T., T.M.W. Methodology: C.G., H.J., M. Martyn, S.M., A.N. Project administration: M.J., N.K. Writing—original draft: C.G., M.J., A.N. Writing—review and editing: A.B., J.B., K.B.S., M.B., S.B., J.C., M.C., A.D., K.D., V.D., C.G., D.G., G.G., R.G., H.J., B.K., D.K., K.K., M.L., A. Ma., J.M., A. Mallett, M. Martyn, M. McCarthy, A.McEwen, B.M., N.M., S.M., A.N., C.P., C.Q., E.R., K.R., A.S., I.S., V.S., B.T., E.S.T., E.T., S.T., T.M.W. All authors agree to be accountable for all aspects of the work.
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing interests.
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
About this article
Cite this article
Nisselle, A., Janinski, M., Martyn, M. et al. Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics). Genet Med (2021). https://doi.org/10.1038/s41436-021-01140-x
Received:
Revised:
Accepted:
Published: