GCOF

The ‘Genetics Clinic of the Future (GCOF)’ is an example of a project focused on strengthening health research systems. GCOF provides an insight into the challenges of translating a promising model of patient engagement into enduring societal impact. 

Aims of the project

New technologies, such as Next Generation Sequencing (NGS) are cheaper and more time-efficient than previous forms of genetic sequencing and better at identifying the genetic components of disease. NGS enables whole genome sequencing (WGS) whereby most of the DNA content of an individual is determined. The aim of GCOF was to create a platform to understand and reflect upon the implications of NGS and WGS in health systems and clinical care contexts from a ‘societal demands’ perspective. GCOF aimed to do so by ensuring that the implementation of NGS reflects the needs of all relevant stakeholders. GCOF was steered by a consortium of 12 partners who together represented a diverse coalition of stakeholders, including:  scientific researchers, policy makers, patient organisations, and social science researchers. The coordinating institution for the project was University Medical Centre (UMC) Utrecht with Dr Terry Vrijenhoek acting as the project’s Principal Investigator (PI).

Project achievements

GCOF produced several knowledge outputs. ‘Mutual learning’ workshops, a broad, multi-level public engagement exercise bringing different stakeholders into a joint conversation about the genetics clinic of the future, led to a journal article published in the European Journal of Human Genetics.[1] Another unpublished article is also forthcoming in the Journal of Community Genetics. The model of equal and informed participation developed in the framework of the ‘mutual learning workshops’ also produced an exportable model for public engagement that could be applied to future initiatives to produce a ‘society demand-orientated’ approach to clinical practice. Moreover, beyond the publication of papers, GCOF disseminated many of its knowledge-related outputs at conferences including the STS-conference in Graz, Austria, and the annual conference of the European Science Event Association (EUSEA) in Tartu, Estonia.^[2]

GCOF produced three policy-relevant documents. Notably, a policy brief [3] on the genetics clinic of the future, alongside legal and ethical expert reports [4]^,[5] that were intended as complimentary to the policy brief. GCOF organised a symposium attended by policymakers, including MEPs, Commission officials, and even a Commissioner, to disseminate its policy-relevant outputs. GCOF also led to a policy change at the institutional level. To enable the project’s simulation exercise, where participants carried out WGS on themselves and reflected upon this experience in a structured manner, the WGS of healthy individuals, without the recommendation of a clinical practitioner, had to be approved by the ethical review board of UMC Utrecht. This led to a new policy in UMC Utrecht, enabling the genetic screening of healthy individuals for research purposes.

A key output of GCOF was the development of capacity and community among the consortium partners. One interviewee emphasised the ‘spirit of the workshops’ which persists today among the participants who try to implement the lessons learnt from GCOF in their new work, as a key output. Another interviewee noted that they had been involved in at least three other proposals that are a direct result of their work with GCOF. Initiatives, such as the creation of explanatory YouTube videos by project participants, contributed to creating a ‘spirit of the workshops’. These videos were not intended to ‘make it to the 8 o’clock news’, but rather to give participants experience ‘behind the camera’ and to reinforce the engagement of participants and partners. These videos were published on the project website,[6] which the project partners committed to keeping online for at least three years after the end of GCOF.

Project impacts, barriers and enablers

Because GCOF only concluded in 2017, it is difficult to chart tangible impacts of the project. However, there are some important barriers to consider. The model for ‘society demand-orientated’ clinical practice and patient participation had the potential to be exported to other clinical settings and to NGS practices more generally. This outcome was not materialised due to the difficulties of dissemination, most notably in a policy context. This was especially the case at the European level where one member of the study team noted that they were simply not ‘powerful enough’ to successfully engage this target audience.

Another barrier was a lack of follow-up funding which made it difficult for GCOF to convert the project from an exploratory project, to one that could lead to the application of the model in new clinical contexts. One of the researchers also cited a reactive, cure-orientated ‘culture’ among medical practitioners as a key barrier to impact when trying to develop a participation-based approach to public health.

[1] Brunfeldt, M, Teare, H, Soini, S, and Kääriäinen, H. 2018. ‘Perceptions of legislation relating to the sharing of genomic biobank results with donors—a survey of BBMRI-ERIC biobanks’, European Journal of Human Genetics 26, pp. 324-329, doi: https://doi.org/10.1038/s41431-017-0049-3

[2] European Commission. 2016. ‘A stepping stone approach towards the Genetics Clinic of the Future – Periodic Technical Report, Part B’, pp.27, accessed 4^th November 2021: https://ec.europa.eu/research/participants/documents/downloadPublic?documentIds=080166e5ac76b510&appId=PPGMS

[3] Almeida, Mara. ‘Policy Brief on Genetics Clinic of the Future’. Accessed 21^st October 2021: http://www.geneticsclinicofthefuture.eu/workpackage/policy-development/

[4] Knoppers, M, B. ‘The Genetics Clinic of the Future: Ethical Aspects’, Accessed 2th November 2021: http://www.geneticsclinicofthefuture.eu/wp-content/uploads/2017/06/Ethical-Expert-Report_GCOF.pdf

[5] Bovenberg, J, ‘ The Genetics Clinic of the Future: Who Owns the Data?’, Accessed: 4^th November 2021: http://www.geneticsclinicofthefuture.eu/wp-content/uploads/2017/06/Legal-Expert-Report_GCOF.pdf

[6] ‘The Genetics Clinic of the Future – GCOF Simulation Project’, Accessed 21^st December 2021: http://www.geneticsclinicofthefuture.eu/home/gcof-simulation-project/