How open publications could help rare diseases – why it needs a shake up

Working with the Hereditary Neuropathy Foundation (HNF) on Charcot-Marie-Tooth and related diseases, we have started to put out quaterly updates to highlight research being funded and also fundraising efforts. The latest update covers some research using Zebrafish. This also set in motion a bit of thought a few weeks ago on open publications.
If you need to find out about what scientific research has been performed on a rare disease where do you go? Do you Google it? Do you try PubMed, do you even try Google Scholar, ResearchGate or one of the many ‘Facebook for scientist’ type sites. As a non-scientist, knowing where to look may be overwhelming in the vastness of the internet. As a scientist, navigating how to make your research more accessible is no less daunting for several reasons.

Vicious circle #1: firstly, if you are a scientist your first instinct is to try to publish in the journal that has the highest impact factor, this may then be reflected favorably on your CV, career prospects and potential for promotion.

Vicious circle #2: if this attempt at publication fails you edit the manuscript and try a lower impact journal, occasionally you may have a flash of inspiration and try a comparable journal or one in a different area so now your research may just get lost. Normally these scientific journals are closed access, which means that if anyone wants to read it they have to pay to read it or have a subscription to the journal.

Vicious circle #3: scientists get trapped in this ‘publish in journals that are free to publish in’ but then prevent others from viewing their work without paying money. I will be quite honest, as someone on the editorial boards of several journals from publishers like Springer and Elsevier, this lack of openness is hard to digest.

As a non-scientist the scientific publishing world may seem utterly perverse. On the one hand, in most cases your taxes funded this science and in fact continue to prolong this situation, on the other hand you ask should the science be freely accessible in order to spread the knowledge and findings? Not if you are a publisher. They would argue they have to make money and they add value to the publication process. Of course this whole ‘pay to view model’ presents problems if you are in need of lots of papers, because the cost quickly mounts up. Say you are a parent trying desperately to understand what science needs to be done to save your child or yourself suffering from a rare disease. A quick search of PubMed suggests 161,894 papers (at the time of writing this draft) that are retrieved with “rare disease” as a search term out of 23 million in the database at this time. For Charcot-Marie-Tooth there are over 3600 papers. Browsing through papers at random, one paper costs $39.95, another is $31, yet another charges $27 for 1 day access, some even charge less for shorter access. This is not like iTunes and you get pretty much any song you want for 99 cents. If papers were this price perhaps there would be less of an argument here. But that is not the case. Papers from NIH funded research are supposed to become freely available after a year of publication. This is a relatively recent change forced on publishers, which many still think did not go far enough. If you are a scientist, the added levels of effort required of submitting your own manuscripts through this system are just another thing to do, unless you pay the publishers to do this.

Increasingly we are seeing scientists paying to publish as open access, they basically shoulder the costs and make their article open online. This of course also depends on the journals and publishers. There are respectable publishers like PLOS, BioMedCentral (owned by Springer and publisher of Orphanet journal of rare diseases), F1000, PeerJ and 100’s more in which publishing a paper may cost from hundreds to several thousands of dollars depending predominantly on the Journal. There are of course also more predatory publishers that prey on the need for scientists to publish their work in order to get grants, but at the same time several vanity journals with low quality standards do nothing to raise the quality of science.

If you publish frequently as a scientist a significant amount of your budget needs to go towards making your science open access. There is also a growing number of scientists that will only publish in open access journals. These are however generally not the highest in terms of citation index, so a trade-off has to be made, openness vs journal impact factor.

The situation is very fluid compared to over 5 years ago when there were few publishing choices. Increasingly, there are journals in any given research area that will allow you to pay to open up your article. As a rare disease foundation, HNF encourages publication of open access science. We think this is essential if you the public are to be able to access the science and be aware of the latest developments. For instance the work we highlighted on the zebrafish was published in PLOSONE. In fact publishing in an open access journal brought this work to our attention in the first place. Waiting a year to get free access to NIH funded research should not be an option for anyone. Perhaps it’s time for someone like Apple or Amazon to rethink the science paper distribution model in the same way they have made music and books, respectively more accessible. People would pay $1 for a paper even for limited access. Its likely publishers would find other ways to make money or in fact, more people may download their papers at a much lower price. I have seen how access to free issues of journals for a month can certainly dramatically drive downloads.

If we are to increase the visibility of rare diseases, the scientific accomplishments of the 1000’s of scientists have to be accessible. There is room for many high quality open access journals for rare diseases and for that matter more general journals that encourage the publication of rare disease related science. We have seen from our own efforts to publish our ideas on CMT in F1000, an unusual, but a very supportive journal. Let us hope the future brings more openness for advances in CMT science.

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