The Elements of Morphology project: Revising nomenclature for human structural anomalies

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What’s in a name?  This famous Shakespeare quote would have us believe that names can be irrelevant, and in some contexts they can be.  However, let’s face it, scientists like to name things, and they can’t always agree on what any particular thing should be called.  In addition, names are often given based on certain perceptions held at the time, which later become invalid, outdated or redundant. Confusion arises when we can’t agree on common terminology, and this can become worse over time.  In most fields, this is periodically addressed by experts that discuss and finally reach consensus on terminology.  This might be for a family of molecules or proteins, a group of diseases, a group of organisms, or, in this case, consensus on how to refer to structural anomalies (also commonly known as birth defects).  In genetics, the need to develop such a set of terms is driven further by the ever-increasing throughput of biological methods, which are outstripping the ability of clinical analyses to properly phenotype patients for both research and clinical care.

An international group of clinicians, including, among others, BMC Medicine Editorial board member Leslie Biesecker and BMC Medical Genetics Section Editor Giovanni Neri, have embarked on an ambitious project to develop definitive set terminology to describe human structural malformations.  The ongoing results are a  series of definitive articles focusing on different sections of the body, with a permanent and physical deposition of the data on a website,  hosted by the National Human Genome Research Institute. BioMed Central is a firm supporter of initiatives to improve reporting in the literature, and our Instructions for Authors have now changed to direct authors to comply with terminology suggestions developed by the Elements of Morphology project, reflecting our support for this project.

As open access publishers allowing free distribution and re-use of the full-text article, including the highly structured XML version, we are also very keen to support any initiatives that aid the field of data mining. Making research information readily available using widely agreed, standardized terminology is vital to realising its value in driving new knowledge discovery, and this scheme joins BioMed Central’s many initiatives aimed at promoting best practice in sharing and publishing data.

So, what does this mean for authors, editors and readers? Leslie Biesecker addresses these points in a commentary this month in BMC Medicine. Biesecker outlines the history of the Elements of Morphology project, why and how there is a need for a consensus on the terminology used, and some practical guidelines for authors and editors on the practical  implementation of the terminology and website in publications.

You can learn more about this exciting initiative, as well as the practical aspects of its implementation in reporting by visiting the BMC Medicine website to read the full article.  We look forward to hearing your feedback!