The ‘serious’ factor in germline modification

Abstract

Current advances in assisted reproductive technologies aim to promote the health and well-being of future children. They offer the possibility to select embryos with the greatest potential of being born healthy (eg, preimplantation genetic testing) and may someday correct faulty genes responsible for heritable diseases in the embryo (eg, human germline genome modification (HGGM)). Most laws and policy statements surrounding HGGM refer to the notion of ‘serious’ as a core criterion in determining what genetic diseases should be targeted by these technologies. Yet, this notion remains vague and poorly defined, rendering its application challenging and decision making subjective and arbitrary. By way of background, we begin by briefly presenting two conceptual approaches to ‘health’ and ‘disease’: objectivism (ie, based on biological facts) and constructivism (ie, based on human values). The basic challenge under both is sorting out whether and to what extent social and environmental factors have a role in helping to define what qualifies as a ‘serious’ disease beyond the medical criteria. We then focus on how a human rights framework (eg, right to science and right to the highest attainable health) could integrate the concepts of objectivism and constructivism so as to provide guidance for a more actionable consideration of ‘serious’. Ultimately, it could be argued that a human rights framework, by way of its legally binding nature and its globally accepted norms and values, provides a more universal foundation for discussions of the ethical, legal and social implications of emerging or disruptive technologies.

Civil liability for damages related to germline and embryo editing against the legal admissibility of gene editing

“…I am referring to the most serious diseases that cause infertility or a high risk of foetal death (or spontaneous abortion). There is no doubt, that the concept of serious illnesses has not been defined, and as Kleiderman et al (2019) show it can be interpreted differently and based on objective criteria (morbidity) or flexible and evolving elements (disability as impacted by social arrangements or treatability as impacted by effectiveness and cost of the treatment).…”

Is the ‘serious’ factor in germline modification really relevant? A response to Kleiderman, Ravitsky and Knoppers

“…The paper by Kleiderman, Ravitsky and Knoppers1 is an excellent piece; it adds important reflections to the debate on assisted reproductive technologies. First of all, they are quite right to underline the importance that the documents produced by important institutions, including Quebec's Commission on Ethics in Science and Technology,1 the US National Academies of Sciences, Engineering and Medicine2 and the German Ethics Council,1 provide to the concept of ‘serious diseases’. Moreover, their efforts to build a new approach to this concept that overcomes the obstacles that have traditionally hindered its development are particularly praiseworthy.…”

“…In my opinion, the error of these authors is based on the parallel they draw between preimplantation genetic testing (PGT) and HGGM. Indeed, they state that ‘past experience with the normative analysis and governance of PGT and prenatal testing can serve as a model to guide similar debates surrounding the acceptability of HGGM’ 1. I believe that accepting this parallelism is a mistake with serious consequences.…”

“…This last assessment is particularly important if we bear in mind that its very selective nature makes PGT often accused of being a refined form of eugenics 6. Moreover, and as the authors express, the fact that a pathology is included in the catalogue of serious diseases incompatible with a reasonably good life ‘could lead to further stigmatisation of people with disabilities’ (p. 4) 1. For all these reasons, it makes sense to limit the possible the use of PGT as much as possible so that it is only used in cases where there seems to be no other reasonable option.…”

“…Therefore, if the technique is safe and effective—the hypothesis on which the whole reasoning of the article I am now criticising is built—it is hard to understand why it should apply exclusively to serious diseases and not to all diseases. If we accept that there is a ‘right to the highest attainable standard of health’ and that HGGM ‘could be perceived as a form of preventive personalised medicine and a tool to foster the realisation of the right to health’ (p. 3),1 then why should we limit its use exclusively to dealing with serious diseases? I do not find any good reason for such a restriction, especially if we bear in mind that, precisely for those serious diseases, there is already a more or less functional tool (with all the issues exposed), namely PGT.…”