Progress and the Circle of Scientific Medical Innovation

Designing an adaptable system without the known variables is often an exercise in caution, unless of course you have been down a similar road before and can rely on established templates for creating repurposed guidelines. In some cases however old parameters simply don't fit any longer and the opportunity to engage in the development of more flexible rules with the benefit of hindsight becomes a net positive in the never ending cycle of innovation driven progress.

A series of high profile developments along this path have taken place of late on the topic of genetics and the advent of gene editing technologies that have the potential to alter the fate of human disease and the burden it represents to society. These policy reviews and the resulting position statements have been brought on by concerns that human gene editing presents a challenge to the perceived boundaries by which scientific discovery and possible therapeutic interventions are applied. 

However, as we have seen knowledge trumps and is critical to all human endeavors, given information is paramount to decision making. Accumulating scientific data in the unknown cause and effect realm of biological systems provides the fundamental opportunity to address the task of solving real world problems. This is the tenant by which translational science has always operated and without which we wouldn't have made profound human advances to our condition.     

Existing legislation in Western countries has provided a basis for clarification on the scope of scientific and translational activities, as reviewed here. Europe expressly prohibits at present germ line editing for reproduction. The UK has always had a pro-knowledge framework for discovery using early stage fertilized pre-embryos up to 14 days. The US presently restricts Federal Funding on embryo creation for research and when destructive practices are employed in the lab. 

What is apparent now is the scientific community's consensus on the inherent value of lab study of early embryonic state development using genetic tools to advance knowledge through research while adhering to the principals of caution in progressing any attempts to implement the alteration of the germ line for reproductive purposes. This was the Middle Way path.

The US National Academies summation of their International Summit on Gene Editing affirmed the above in early December last year and called for an ongoing forum to further the dialogue on the topic as the science develops with a view to establishing new recommended guidelines if and when appropriate. The fluid nature of the science requires such and was therefore prudent to set this investigative precedent for all respective regulatory bodies to consider, including the US. 

Previously the UK reaffirmed its position as a leading member of the international scientific community by being the first country to consider Mitochondrial DNA replacement therapy for families with genetic disorders wishing to have a baby free of the diseases associated with such inherited problems. Most recently the UK has agreed to allow genetic research on fertilized pre-embryos for infertility studies without intent to implant for reproductive purposes and always adhering to the prior 14 day limit on embryo development. A modification to the UK law was required for the Mitochondrial DNA therapy to proceed to review stage, while the research on early pre-embryos was already allowable under existing legislative framework which required prior approval and strict oversight.

Following on from the UK's position on Mitochondrial DNA therapy the US National Academies earlier this week announced its recommendation on this genetic intervention procedure for germ-line modification application. The result being an additional affirmation of the scientific potential to alleviate disease through continued research and potential use of the technology in the US. Notable was the necessary recommended investigational support for early pre-embryo studies. Current congressional restrictions inhibit actual Federal support for such studies on viable early stage pre-embryos. This may change in the fiscal year 2017 appropriations Bill as the restriction is not permanent. Support for non-viable pre-embryo research was expressly noted in the US National Academies recommendation paper.           

Both the ISSCR and CIRM have previously stated that they support research on early stage pre-embryos for scientific purposes and have reiterated that position also this week while calling for renewed study of the societal implication of gene therapy and germ line editing.

Commercially the recent change in the position of the European Patent Office on the acceptable use of non-viable pre-embryos methods via germ-line modification brings the alignment closer together and bodes well for the application of various stalled avenues of translational science for the benefit of patients in need. 

Coming around full circle, there would be little progress without the support for all forms of scientific innovation.

Advocacy for Cures.



1. International Summit on Human Gene Editing Washington DC - "On Human Gene Editing: International Summit Statement" (Dec. 3rd 2016)
2. UK "Scientists get 'gene editing' go-ahead" (BBC Feb. 1st 2016)
3. The National Academies "Clinical Investigations of Mitochondrial Replacement Techniques Are ‘Ethically Permissible’ If Significant Conditions Are Met, Says New Report" (Feb. 3rd 2016)
4. California Stem Cell Report items by David Jensen re: CIRM (1,2) & ISSCR (3) (Feb. 5th 2016)
5. Related blog posts: 1, 2, 3, 4