The most common use case for terms generated by this survey is to determine which genes should go on a gene panel in a variety of different contexts. This includes clinical diagnostic testing for monogenic disease as well as presymptomatic testing and other healthy screening. For the purposes of this survey, all terms being considered are in the context of genes implicated in highly penetrant, monogenic disease.
To best serve the community, we are seeking input on the harmonized set of terms and their definitions, to then form a framework for standardization and collaboration. These terms will be used as the recommended set and to map all other terms used across the represented curation efforts in the consortium. Please answer the following questions to help guide the development of the terminology for defining the validity of a gene’s role in monogenic disease. This survey should take 10-15 minutes to complete.
NOTE: We suggest that survey respondents watch a 6 minute optional explanatory video that discusses the purpose of this work before accessing and completing the survey. The video can be found here: https://vimeo.com/306463165