An article published in Genetics Research discusses how next generation sequencing (NGS) based research on rare diseases has come a long way and the effect of long tail economics on rare diseases research. Long tail statistics has been commonly used to understand the rise of internet retailers, crowdfunding, crowdsourcing etc., where a large share of the data rests within its tail unlike a normal distribution. The authors believe that the trend observed in rare disease research, especially in terms of the developments in NGS, can benefit from the two themes derived from long tailed economics – increased access and reduced cost.
In this context, increased access would mean that the researcher would be able to look through a sea of data produced thanks to whole genome and whole exome sequencing and find what they are looking for (gene, disease, phenotype) . They also detail the developments in bioinformatics that has led to the development of this enormous amount of data which in turn required better curative and sharing efforts. The authors refer reduced cost to the reduction of overhead costs by centralising resources where the curative and sharing efforts come in play. They also address the issue of reimbursement that comes with the rising cost of sequencing. According to the authors “as a long-tailed problem, continued discovery of rare diseases requires a funding infrastructure that can sustainably support the work needed to identify the great number of rare diseases”, for which they believe a good source is crowdfunding. The authors believe that “the principles derived from long-tail economics shape our understanding of the recent development of this field and offer insight towards needed improvements.”
The authors of this article belong to the Rare Genomics Institute that has recently launched 10 crowdfunding campaigns to sequence exomes of rare disease patients.