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:

Australian human research ethics committee members’ confidence in reviewing genomic research applications

European Journal of Human Genetics volume 29, pages 1811–1818 (2021)Cite this article

Subjects

Abstract

Human research ethics committees (HRECs) are evaluating increasing quantities of genomic research applications with complex ethical considerations. Genomic confidence is reportedly low amongst many non-genetics-experts; however, no studies have evaluated genomic confidence levels in HREC members specifically. This study used online surveys to explore genomic confidence levels, predictors of confidence, and genomics resource needs of members from 185 HRECs across Australia. Surveys were fully or partially completed by 145 members. All reported having postgraduate 94 (86%) and/or bachelor 15 (14%) degrees. Participants consisted mainly of researchers (n = 45, 33%) and lay members (n = 41, 30%), affiliated with either public health services (n = 73, 51%) or public universities (n = 31, 22%). Over half had served their HREC \(\ge\)3 years. Fifty (44%) reviewed genomic studies \(\le\)3 times annually. Seventy (60%) had undertaken some form of genomic education. While most (94/103, 91%) had high genomic literacy based on familiarity with genomic terms, average genomic confidence scores (GCS) were moderate (5.7/10, n = 119). Simple linear regression showed that GCS was positively associated with years of HREC service, frequency of reviewing genomic applications, undertaking self-reported genomic education, and familiarity with genomic terms (p < 0.05 for all). Conversely, lay members and/or those relying on others when reviewing genomic studies had lower GCSs (p < 0.05 for both). Most members (n = 83, 76%) agreed further resources would be valuable when reviewing genomic research applications, and online courses and printed materials were preferred. In conclusion, even well-educated HREC members familiar with genomic terms lack genomic confidence, which could be enhanced with additional genomic education and/or resources.

Access through your institution
Buy or subscribe

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

Access options

Access through your institution

Buy this article

  • Purchase on SpringerLink
  • Instant access to full article PDF
Buy now

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

Similar content being viewed by others

Data availability

The datasets generated and/or analysed during the current study are available from the corresponding author on reasonable request.

References

  1. Khan R, Mittelman D. Consumer genomics will change your life, whether you get tested or not. Genome Biol. 2018;19:4–7.

    Article  Google Scholar 

  2. Martinez-martin N, Magnus D, Martinez-martin N, Magnus D. Privacy and ethical challenges in next-generation sequencing Privacy and ethical challenges in next-generation sequencing. Expert Rev Precis Med Drug Dev. 2019;4:95–104.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Barazzetti G, Cavalli S, Benaroyo L, Kaufmann A. Still rather hazy at present: citizens’ and physicians’ views on returning results from Biobank research using broad consent. Genet Test Mol Biomark. 2017;21:159–65.

    Article  Google Scholar 

  4. Budin-Ljøsne I, Teare HJA, Kaye J, Beck S, Bentzen HB, Caenazzo L, et al. Dynamic consent: a potential solution to some of the challenges of modern biomedical research. BMC Med Ethics. 2017;18:1–10.

    Article  Google Scholar 

  5. Mascalzoni D, Hicks A, Pramstaller P, Wjst M. Informed consent in the genomics era. PLoS Med. 2008;5:1302–5.

    Article  Google Scholar 

  6. Johnson SB, Slade I, Giubilini A, Graham M. Rethinking the ethical principles of genomic medicine services. Eur J Hum Genet. 2020;28:147–54.

  7. Kaye J, Boddington P, De Vries J, Hawkins N, Melham K. Ethical implications of use of whole genome methods in medical research. Eur J Hum Genet. 2010;18:398–403.

    Article  CAS  PubMed  Google Scholar 

  8. Eckstein L, Garrett JR, Berkman BE. A framework for analyzing the ethics of disclosing genetic research findings. 2014;42:190–207.

  9. Bombard Y, Brothers KB, Fitzgerald-Butt S, Garrison NA, Jamal L, James CA, et al. The responsibility to recontact research participants after reinterpretation of genetic and genomic research results. Am J Hum Genet. 2019;104:578–95.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Tibben A, Dondorp W, Cornelis C, Knoers N, Brilstra E, van Summeren M, et al. Parents, their children, whole exome sequencing and unsolicited findings: growing towards the child’s future autonomy. Eur J Hum Genet. 2021;29:911–9.

  11. Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, et al. Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genet Med. 2019;21:1100–10.

    Article  PubMed  Google Scholar 

  12. Kaye J, Terry SF, Juengst E, Coy S, Harris JR, Chalmers D, et al. Including all voices international datasharing governance. Hum Genom. 2018;12:18–23.

    Article  Google Scholar 

  13. Arbour L, Cook D. DNA on loan: Issues to consider when carrying out genetic research with aboriginal families and communities. Commun Genet. 2006;9:153–60.

    Google Scholar 

  14. Kowal E, Orphan DNA. Indigenous samples, ethical biovalue and postcolonial science. Soc Stud Sci. 2013;43:577–97.

    Article  Google Scholar 

  15. Vidgen ME, Kaladharan S, Malacova E, Hurst C, Waddell N. Sharing genomic data from clinical testing with researchers: public survey of expectations of clinical genomic data management in Queensland, Australia. BMC Med Ethics. 2020;21:1–11.

    Article  Google Scholar 

  16. Liao SM. Is there a duty to share genetic information? J Med Ethics. 2009;35:306–9.

    Article  CAS  PubMed  Google Scholar 

  17. Wallingford CK, Cutler K, Istiko SN, Fowles LF, Lamb R, Bean J, et al. Queensland consumers’ awareness and understanding of clinical genetics services. Front Genet. 2020;11:1–8.

    Article  Google Scholar 

  18. Haga SB, Carrig MM, O’Daniel JM, Orlando LA, Killeya-Jones LA, Ginsburg GS, et al. Genomic risk profiling: attitudes and use in personal and clinical care of primary care physicians. J Gen Intern Med. 2011;26:834–40.

    Article  PubMed  PubMed Central  Google Scholar 

  19. Tiller J, Keogh L, Wake S, Delatycki M, Otlowski M, Lacaze P. Genetics, insurance and professional practice: survey of the Australasian clinical genetics workforce. Front Public Heal. 2018;6:1–7.

    Article  Google Scholar 

  20. Carere DA, Kraft P, Kaphingst KA, Roberts JS, Green RC. Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing. Genet Med. 2016;18:65–72.

    Article  PubMed  Google Scholar 

  21. Hamilton JG, Abdiwahab E, Edwards HM, Fang M, et al. Primary care providers’ cancer genetic testing-related knowledge, attitudes and communication behaviors: a systematic review and research agenda. J Gen Intern Med. 2017;32:315–24.

  22. Chow-White P, Ha D, Laskin J. Knowledge, attitudes, and values among physicians working with clinical genomics: a survey of medical oncologists. Hum Resour Health. 2017;15:1–9.

    Article  Google Scholar 

  23. Papaioannou K, Kampourakis K. Health-care professionals’ awareness and understanding of genomics. In Applied genomics and public health. Cambridge, Massachusetts, Academic Press 2020 (pp. 225–242).

  24. Gingras I, Sonnenblick A, De Azambuja E, Paesmans M, Delaloge S, Aftimos P, et al. The current use and attitudes towards tumor genome sequencing in breast cancer. Sci Rep. 2016;6:1–8.

    Article  Google Scholar 

  25. Blazer KR, Nehoray B, Solomon I, Niell-swiller M, Culver JO, Uman GC, et al. Next-generation testing for cancer risk: perceptions, experiences, and needs among early adopters in community healthcare settings. Genet Test Mol Biomarkers. 2015;19:657–65.

    Article  PubMed  PubMed Central  Google Scholar 

  26. Demeshko A, Pennisi DJ, Narayan S, Gray SW, Brown MA, McInerney-Leo AM. Factors influencing cancer genetic somatic mutation test ordering by cancer physician. J Transl Med. 2020;18:413.

  27. Harding B, Webber C, Rühland L, Dalgarno N, Armour C, Birtwhistle R, et al. Bridging the gap in genetics: a progressive model for primary to specialist care. BMC Med Educ. 2019;19:1–10.

    Article  Google Scholar 

  28. Johnson LM, Valdez JM, Quinn EA, Sykes AD, McGee RB, Nuccio R, et al. Integrating next-generation sequencing into pediatric oncology practice: an assessment of physician confidence and understanding of clinical genomics. Cancer. 2017;123:2352–9.

    Article  PubMed  Google Scholar 

  29. National Health and Medical Research Council. Report on the Activity of Human Research Ethics Committees and Certified Institutions for the period: 1 January 2019 to 31 December 2019. National Health and Medical Research Council: 2020. Available from https://www.nhmrc.gov.au/about-us/resources/activity-human-research-ethics-committees-and-certified-institutions.

  30. National Health and Medical Research Council. List of Human Research Ethics Committees registered with NHMRC. National Health and Medical Research Council: 2018. Available from: https://www.nhmrc.gov.au/sites/default/files/documents/attachments/registered-hrecs.pdf.

  31. Gliwa C, Yurkiewicz IR, Lehmann LS, Hull SC, Jones N, Berkman BE. Institutional review board perspectives on obligations to disclose genetic incidental findings to research participants. Genet Med. 2016;18:705–11.

    Article  CAS  PubMed  Google Scholar 

  32. Dressler LG, Smolek S, Ponsaran R, Markey JM, Starks H, Gerson N, et al. IRB perspectives on the return of individual results from genomic research. Genet Med. 2012;14:215–22.

    Article  PubMed  PubMed Central  Google Scholar 

  33. De Smit E, Kearns L, Clarke L, Dick J, Hill C, Hewitt A. Heterogeneity of human research ethics committees and research governance offices across Australia: an observational study. Australas Med J. 2016;9:33–9.

    Article  PubMed  PubMed Central  Google Scholar 

  34. Milo Rasouly H, Cuneo N, Marasa M, DeMaria N, Chatterjee D, Thompson JJ, et al. GeneLiFT: a novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing. J Genet Couns. 2020;30:742–54.

    Article  PubMed  PubMed Central  Google Scholar 

  35. IBM Corp. Released 2020. IBM SPSS Statistics for Macintosh, Version 27.0. Armonk, NY; IBM Corp.

  36. Calzone KA, Kirk M, Tonkin E, Badzek L, Benjamin C, Middleton A. The global landscape of nursing and genomics. J Nurs Scholarsh. 2018;50:249–56.

    Article  PubMed  PubMed Central  Google Scholar 

  37. Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet. 2018;19:253–68.

    Article  CAS  PubMed  Google Scholar 

  38. Mcclaren BJ, Crellin E, Janinski M, Nisselle AE. Preparing medical specialists for genomic medicine: continuing education should include opportunities for experiential learning. Front Genet. 2020;11:1–11.

    Article  Google Scholar 

  39. Haga SB, Barry WT, Mills R, Ginsburg GS, Svetkey L, Sullivan J, et al. Public knowledge of and attitudes toward genetics and genetic testing. Genet Test Mol Biomark. 2013;17:327–35.

    Article  Google Scholar 

  40. Whitley KV, Tueller JA, Weber KS. Genomics education in the era of personal genomics: academic, professional, and public considerations. Int J Mol Sci. 2020;21:768.

  41. Savard J, Hickerton C, Tytherleigh R, Terrill B, Turbitt E, Newson AJ, et al. Australians’ views and experience of personal genomic testing: survey findings from the Genioz study. Eur J Hum Genet. 2019;27:711–20.

    Article  PubMed  PubMed Central  Google Scholar 

  42. Rubanovich CK, Cheung C, Mandel J, Bloss CS. Physician preparedness for big genomic data: a review of genomic medicine education initiatives in the United States. Hum Mol Genet. 2018;27:R250–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  43. Abrams LR, McBride CM, Hooker GW, Cappella JN, Koehly LM. The many facets of genetic literacy: assessing the scalability of multiple measures for broad use in survey research. PLoS One. 2015;10:1–11.

    Article  Google Scholar 

Download references

Acknowledgements

We thank the NHMRC Research Quality and Priorities group for providing contact details for the HREC co-ordinators. We would also like to thank the HREC members who graciously agreed to participate.

Funding

AML is funded by a National Health and Medical Research Council (NHMRC) Early Career Fellowship (ID 1158111). RMW was supported by an ARC Discovery Project (ID 180100269). The University of Queensland Diamantina Institute is located in The Translational Research Institute, supported by a grant from the Australian Government. CW is supported by an Australian Government Research Training Program Scholarship.

Author information

Author notes

  1. These authors contributed equally: Ryan Pysar, Courtney K. Wallingford.

Authors and Affiliations

  1. Genetic Counseling, Graduate School of Health, University of Technology Sydney, Sydney, NSW, Australia

    Ryan Pysar & Chris Jacobs

  2. Centre for Clinical Genetics, Sydney Children’s Hospital, Randwick, NSW, Australia

    Ryan Pysar

  3. University of Queensland Diamantina Institute, University of Queensland, Dermatology Research Centre, Woolloongabba, QLD, Australia

    Courtney K. Wallingford & Aideen M. McInerney-Leo

  4. NSW Genetics of Learning Disability (GOLD) Service, Hunter Genetics, Waratah, NSW, Australia

    Jackie Boyle

  5. Department of Nephrology, Princess Alexandra Hospital, Woolloongabba, QLD, Australia

    Scott B. Campbell

  6. Faculty of Law University of Tasmania, Hobart, TAS, Australia

    Lisa Eckstein

  7. School of Medicine, Faculty of Health, Deakin University, Geelong, VIC, Australia

    Rebekah McWhirter

  8. Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia

    Bronwyn Terrill

  9. St Vincent’s Clinical School, UNSW Sydney, Sydney, NSW, Australia

    Bronwyn Terrill

Authors
  1. Ryan Pysar
    View author publications

    Search author on:PubMed Google Scholar

  2. Courtney K. Wallingford
    View author publications

    Search author on:PubMed Google Scholar

  3. Jackie Boyle
    View author publications

    Search author on:PubMed Google Scholar

  4. Scott B. Campbell
    View author publications

    Search author on:PubMed Google Scholar

  5. Lisa Eckstein
    View author publications

    Search author on:PubMed Google Scholar

  6. Rebekah McWhirter
    View author publications

    Search author on:PubMed Google Scholar

  7. Bronwyn Terrill
    View author publications

    Search author on:PubMed Google Scholar

  8. Chris Jacobs
    View author publications

    Search author on:PubMed Google Scholar

  9. Aideen M. McInerney-Leo
    View author publications

    Search author on:PubMed Google Scholar

Contributions

RP, CJ and AML were responsible for study design, and data collection. RP, AML and CW were responsible for data analysis, interpreting results, and writing the manuscript. JB, SBC, LE, RM, BT, and CJ gave input on questionnaire design and edited the manuscript.

Corresponding authors

Correspondence to Ryan Pysar or Aideen M. McInerney-Leo.

Ethics declarations

Competing interests

LE has recently received funds from Praxis Australia to develop training materials for HRECs. The other authors declare no competing interests.

Ethics approval

Ethics approval for this study was obtained through the University of Queensland Human Research Ethics Committee (HREC) (UQ #2019002416) and ratified by the University of Technology Sydney HREC (ETH19-C0005).

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

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Pysar, R., Wallingford, C.K., Boyle, J. et al. Australian human research ethics committee members’ confidence in reviewing genomic research applications. Eur J Hum Genet 29, 1811–1818 (2021). https://doi.org/10.1038/s41431-021-00951-5

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue date:

  • DOI: https://doi.org/10.1038/s41431-021-00951-5

This article is cited by

Search

Advanced search

Quick links