DCCPS Epidemiology and Genomics

Leidos Biomedical Research, Inc., Frederick MD

Investigators

Abstract

The KP-CHR protocol uses a systematic process to create a binning report that provides information on five domains associated with the gene-phenotype pair (please refer to the KP-CHR Synthesis Protocol for further information): 1. Nature of the genetic disorder: Prevalence, clinical features, natural history 2. Actionability: Patient management, surveillance, family management, circumstances to avoid 3. Likelihood: Prevalence of the associated genetic mutations, penetrance/relative risk, variable expressivity 4. Acceptability of the intervention: risk and burden 5. Chance to escape clinical detection prior to harm in the clinical setting Relevant sources used to complete the binning report include practice guidelines, systematic reviews, and meta-analyses as well as other sources such as GeneReview, OMIM, and OrphaNet entries. Once all sources are identified they will then be Identified sources are then tiered based on the quality of the source.