I always look through the table of contents of Nature Genetics, which I have delivered to my inbox. Over the last couple of years, the journal has included a high fraction of papers that are either original genome-wide association studies or meta-analyses of multiple studies. These are substantial studies that have dozens of authors, on conditions of broad interest – for example, this month there is a meta-analysis paper about type 2 diabetes. So I have no criticism of the journal, these studies need to be published somewhere.
But others might be impatient with this course of research. The studies are formulaic: put together a large set of cases and controls, run them across a genotyping chip, and report the results. In the current issue, the journal’s editorial board enters an op/ed suggesting that the current situation will not continue forever, because GWAS studies just aren’t that interesting anymore
Which Mendelian variants produce results suitable for publication in the journal? Our general principles are and have always been to select papers for review by the amount of new data and new ideas and the resource value contained within. Papers must meet current field-specific standards set by our latest benchmark papers and referee advice. Finally, we consider the value of the paper as a research tool, prioritizing those that will motivate larger numbers of scientists to do their research differently as a consequence. In principle it should be possible to find a phenotype for each of the tens of thousands of genetic elements in the human genome, but not all such results will be equally informative. However, if, say, 50 other labs will drop everything and instead use the results of your work, that paper is certainly suitable for this journal!
Well, there you go. The editorial also addresses pedigree research, stating that new identifications of Mendelian disorders in single families will not be sent for review.
I think this all is appropriate, it’s just interesting that research has advanced to the point that finding a genetic cause for a disorder is no longer a sufficient reason for publication. If you look through the GWAS Catalog, you find study after study published in Nature Genetics. Those days are probably numbered.