Cecilia Van Cauwenberghe from Frost & Sullivan’s TechVision Group Genomic medicine approaches – two contrasting case studies to note including the overall perspective, as well as the challenges and concerns in the field
Genomic research, particularly genome sequencing, has dramatically been translated into clinical practice. This fact is also demonstrated through the strong government financial support evidenced in the implementation of genomic research into healthcare systems. Numerous national genomic medicine initiatives are presently active, unparalleled propelling transformational healthcare (Stark et al., 2019). However, ethics may present some highlights around genomic medicine. Here, two extreme case studies are unveiled: Finland and China. How countries are evolving their medical systems through genomic medicine approaches?
Case Study #1: Finland
As many other developed countries, Finland is strongly betting to the opportunities generated by the availability of huge amounts of data and gene-based collections. Big data is expected to actively participate in the enhancement of medical research and the consequent generation of economic wealth, in the path toward the total access of the population to health and wellbeing. The imperative relies on the usage of massive genomic data justified by the moral principle of improving health (Snell, 2019).
Such imperative of health also establishes the legal regulation of data collection, infrastructure development and genomic innovation. Finnish data-driven medicine is based on the moral principle of health, with policies related to privacy and autonomy subjected to this national goal. On that note, the highly restrictive and conscious government regulatory policies of data privacy and security become the major challenge for leveraging the entire potential of big data analytics in the country. However, Finland has found a potential solution through the institutionalisation of automatic systemic data anonymisation policies in order to make healthcare data safe from cyber-attacks and accessible to life scientists (Taiwo, 2019).
Case Study #2: China
At the opposite corner, violating the ethical consensus of scientists all over the world, a team of Chinese scientists led by He Jiankui. He presented during the second World Summit of Human Gene Editing in early 2019, the gene-editing project that led to the birth of two baby girls with man-made C-C chemokine receptor type 5 (CCR5) mutations. This research was strongly repudiated by the worldwide scientific community as an extremely irresponsible behaviour that exhibits a lack of both medical ethics and understanding of gene editing science. The gene editing on a human germline constitutes a severe violation of both the Chinese regulations and the consensus reached by the international science community (Wang and Yang, 2019). How- ever, this incident triggered a wide-ranging discussion about the criteria and standards for genome editing in the human germline for reproductive purposes, attempting to reach a solid consensus about clear and strict policies at an international level.
It is remarkable to highlight that the present gene-editing technologies that attempt to introduce precise genetic modifications into the human germlines are still poorly developed. Although a further development and improvement of these technologies may provide solutions for many genetic and rare diseases, presently severely underserved by medical therapies, a regulatory framework is needed before translating gene-editing solutions from genomic research to specific medical applications (Ye et al., 2019).
Final remarks
In contrast to the Finland case, where a national commitment governs the most critical decisions regarding health and wellbeing actions, there is a serious lack of awareness about the importance of ethics in China. Some researchers emphasise on the urgent need to improve both ethics training and scientific knowledge. In fact, present members of ethics committees are considered by the international scientific and clinical community as probably not well-positioned to assess emerging technologies rigorously (Lei et al., 2019).
Acknowledgements
I would like to thank all contributors from industry involved with the development and delivery of this article from the TechVision Group at Frost & Sullivan.
References
Lei, R., Zhai, X., Zhu, W. and Qiu, R., 2019. Reboot ethics governance in China.
Snell, K., 2019. Health as the moral principle of post-genomic society: Data-driven arguments against privacy and autonomy. Cambridge Quarterly of Healthcare Ethics, 28(2), pp.201-214.
Stark, Z., Dolman, L., Manolio, T.A., Ozenberger, B., Hill, S.L., Caulfied, M.J., Levy, Y., Glazer, D., Wilson, J., Lawler, M. and Boughtwood, T., 2019. Integrating genomics into healthcare: a global responsibility. The Amer- ican Journal of Human Genetics, 104(1), pp.13-20.
Taiwo, A., 2019. Big-Data Technology in Finnish Healthcare: Barriers and Possible Ways Out.
Wang, H. and Yang, H., 2019. Gene-edited babies: What went wrong and what could go wrong. PLoS biology, 17(4), p.e3000224.
Ye, Z.J., Zhang, X.Y., Liang, J. and Tang, Y., 2019. The challenges of medical ethics in China: are gene-edited babies enough? Science and engineering ethics, pp.1-3.
