Strategies to Guide the Return of Genomic Research Findings: An Australian Perspective
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In Australia, along with many other countries, limited guidance or other support strategies are currently available to researchers, institutional research ethics committees, and others responsible for making decisions about whether to return genomic findings with potential value to participants or their blood relatives. This lack of guidance results in onerous decision-making burdens—traversing technical, interpretative, and ethical dimensions—as well as uncertainty and inconsistencies for research participants. This article draws on a recent targeted consultation conducted by the Australian National Health and Medical Research Council to put forward strategies for supporting return of finding decision-making. In particular, we propose a pyramid of decision-making support: decision-making guidelines, technical and interpretative assistance, and ethical assistance for intractable “tough” cases. Each step of the pyramid involves an increasing level of regulatory involvement and applies to a smaller subsection of genomic research findings. Implementation of such strategies would facilitate a growing evidence base for return of finding decisions, thereby easing the financial, time, and moral burdens currently placed on researchers and other relevant decision-makers while also improving the quality of such decisions and, consequently, participant outcomes.
KeywordsIncidental findings Genetic research/ethics Research personnel/ethics Policy
- American College of Medical Genetics and Genomics. 2014. ACMG updates recommendation on “Opt Out” for genome sequencing return of results. April 1, 2014. https://www.acmg.net/docs/Release_ACMGUpdatesRecommendations_final.pdf. Accessed May 29, 2017.
- Australian Government National Health and Medical Research Council. 2007. National statement on ethical conduct in human research. Canberra.Google Scholar
- Australian Law Reform Commission. 2003. Essentially yours: The protection of human genetic information in Australia (ALRC Report 96).Google Scholar
- Cho, M.K., H. Taylor, J.B. McCormick, et al. 2015. Building a central repository for research ethics consultation data: A proposal for a standard data collection tool. Clinical and Translational Science 8(4):376–387.Google Scholar
- Cho, M. K., S. L. Tobin, H. T. Greely, J. McCormick, A. Boyce, and D. Magnus. 2008a. Research ethics consultation. IRB 30(6):1–6.Google Scholar
- -----. 2008b. Strangers at the benchside: Research ethics consultation. The American Journal of Bioethics 8(3):4–13.Google Scholar
- Danis, M., E. Largent, C. Grady, et al. 2012. Research ethics consultation: A casebook. Oxford University Press: USA.Google Scholar
- Eckstein, L. 2015. Regulatory challenges of synthetic biology trials and other highly innovative investigational products. Macquarie Law Journal 15: 65.Google Scholar
- van El, C.G., M.C. Cornel, P. Borry, et al. 2013. Whole-genome sequencing in health care. European Journal of Human Genetics 21(6): 1–5.Google Scholar
- Kalia, S.S., K. Adelman, S.J. Bale, et al. 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.CrossRefPubMedGoogle Scholar
- Lidz, C.W., and P.S. Appelbaum. 2002. The therapeutic misconception: Problems and solutions. Medical Care 40(9 Suppl): 55–63.Google Scholar
- National Health and Medical Research Council. 2009. Human Genetics Advisory Committee (HGAC). September 22, 2009. https://www.nhmrc.gov.au/about/nhmrc-committees/previous-committees-and-advisory-groups/human-genetics-advisory-committee-hga. Accessed October 27, 2017.
- -----. 2013. Targeted consultation paper: Return of results from “Omics”-based research and clinical practice.Google Scholar
- -----. 2016. Public consultation on Section 3 (Chapters 3.1 & 3.5), Glossary and Revisions to Section 5 National statement on ethical conduct in human research, 2007. NHMRC Public Consultations. December 21. https://consultations.nhmrc.gov.au/public_consultations/ethical_conduct. Accessed May 29, 2017.
- National Pathology Accreditation Advisory Council. 2017. Requirements for human medical genome testing utilising massively parallel sequencing technologies. Australian Government Department of Health and Ageing. http://www.health.gov.au/internet/main/publishing.nsf/Content/npaac-pub-mps. Accessed May 29, 2017.
- Otlowski, M. 2014. Disclosure of incidental research findings: An update and insight into the NHMRC Response. Invited plenary speaker for the Australasian Biospecimens Network Association, Disclosure of Incidental Research Findings: An update and insight into the NHMRC Response, Christchurch, New Zealand, December 2014.Google Scholar
- PHG Foundation. 2011. Next steps in the sequence: The implications of whole genome sequencing for health in the UK. Cambridge: PHG Foundation. http://www.phgfoundation.org/documents/283_1323430677.pdf. Accessed October 30, 2017.
- -----. 2014. Realising genomics in clinical practice. http://www.phgfoundation.org/reports/16447/. Accessed May 29, 2017.
- Presidential Commission for the Study of Bioethical Issues. 2013. Anticipate and communicate: Ethical management of incidental and secondary findings. Washington D.C.: Presidential Commission for the Study of Bioethical Issues. http://bioethics.gov/sites/default/files/FINALAnticipateCommunicate_PCSBI_0.pdf. Accessed July 11, 2015.
- Royal College of Pathologists of Australia. 2015. Massively parallel sequencing implementation guidelines. https://www.rcpa.edu.au/Library/Practising-Pathology/RCPA-Genetic-Testing/MAPSIG/ELIssues. Accessed May 29, 2017.