Autosomal recessive West Syndrome. Exome sequencing and other high-throughput sequencing technologies work best in the identification of recessive disorders. While many cases of West Syndrome are thought to be the result of de novo mutations, recessive inheritance is seen in a subset of patients. In a recent paper in Epilepsia, Edvardson and colleagues now report mutations in ST3GAL3 in a consanguineous Palestinian family with four affected individuals with West Syndrome. This report takes us deep into the chromosomal anatomy of the linkage region, raising the question at what point we can claim that a gene is found. Continue reading
A 21st century gold rush. Collections of biosamples, referred to as biobanks, are sometimes referred to as the ‘gold of the 21st century‘, as these collections will provide the key for translating the findings of biomedical research into patient treatments. The upcoming revolution of personalized health can only happen if well-curated patient samples for DNA, tissues and other biomaterials are available. In many European countries, large government-funded initiatives are on the way to build these collections. So far, so good.
DNA colonialism. But what does this have to do with colonialism? The phrase of DNA colonialism has a dual origin and was pretty much invented in parallel in a discussion I had with researches in Israel and Morocco. Given that this idea came up twice independently within a few weeks, it prompted me to put this together as a blog entry. DNA colonialism refers to the phenomenon that researchers from “developed” countries obtain valuable biosamples in “developing” countries for their research. Collaborations with emerging countries are becoming increasingly important given the particular genetic architecture in these countries, which lends itself to gene discovery. Often collaborating researchers in the emerging country are only involved on a very basic level and are sometimes not even involved in the final publication of the data. This phenomenon is frequently observed in the literature when the author list of novel gene findings in consanguineous families do not include researchers from the respective emerging country.
DNA mining leaves little behind other than empty mines. Within these bilateral collaborations, the genetic architecture of the “developing” countries is mined by Western researchers, which is sometimes interpreted as a modern form of colonialism. While there is little doubt that the findings originating from this research are important, there is little benefit for the emerging country. Examples where the gene findings in families are translated into screening programs are rare and -to my knowlegde- only exists for Bedouin population in the Southern part of Israel. Treatment options based on these findings are even rarer. Instances, in which a partnership between a “developing” and “developed” country has resulted in the creation of infrastructure on site are few.
New rules for “DNA trading”. What has to be done to avoid DNA colonialism and what would constitute a fair trade agreement to enable a productive partnership rather than an exploitation of the genetic architecture? Naturally, there is not a single definite solution for this issue, but at least two points may be raised in this context.
Biosamples are becoming more valuable. First, the relative value of biosamples in relation to genetic technologies is increasing. The price for Next Generation Sequencing technologies is constantly dropping and samples can be analyzed at much lower costs. This will naturally help the relationship between both partners as the effort to obtain sample is increasingly valued. Also, there is an increasing awareness regarding the IRB-related issues surrounding biosamples. While many researchers still feel that they lose the control over a given biosample once the sample leaves the country, the entire field is getting increasingly sensitized to these issues. Modern material transfer agreements might include well laid-out plans for what happens with samples once they cross international borders.
Redistribution, fostering intrinsic motivation. Secondly, research environments in developing countries would need to provide a commitment towards generating a sustainable infrastructure in emerging countries. Despite the naive impression that building good research environments is not possible in countries outside the Western sphere, there are examples that suggest otherwise. For example, the Kanaan lab in Bethlehem, Palestine, represents one of the of the premier labs worldwide for the research of genetic hearing loss and Dr. Kanaan has a strong commitment to establishing methods and technologies on site. As in many other instances, lack for funding for R&D is not a matter of resources, but of distribution. The question of to what extent pure external incentives such as large amounts of funding might help resolve these issues is uncertain, and one of the key challenges would be to foster intrinsic motivation for these issues in young researchers.
Implementing some of these issues might help researchers in emerging countries establish long-term plans to generate on-site know-how and infrastructure in order to fully participate as equal partners in international research networks. Eventually, the hunt for epilepsy genes does only start with the identification of these variants. If we ever have the hope that genetic findings in the epilepsies will impact on patient care and treatment, we as the EuroEPINOMICS consortium should strongly motivate our collaborative partners in emerging countries to be more than mere sample providers.