A key barrier to translating the power of genomic sequencing to the clinical setting involves the time and resources required for clinically-relevant analysis. To help address this barrier, we constructed the Clinical Genomic Database (CGD), a manually curated database of conditions with known genetic causes, focusing on medically significant genetic data with available interventions.
All conditions with identified genetic causes are included in the CGD. For each entry, the database includes the gene symbol, condition(s), allelic conditions, inheritance, age (pediatric or adult) in which interventions are indicated, clinical categorization, and a general description of interventions/rationale. The contents are not intended to serve as nor substitute for comprehensive clinical guidelines, but are rather intended to briefly describe the types of interventions that might be considered.
The database includes only single gene alterations (it does not include contiguous gene syndromes, although some conditions with, for example, digenic inheritance are included), and does not include genetic associations or susceptibility factors related to more complex diseases, such as identified through association-based studies. Somatic alterations, such as commonly occur in cancerous processes, are not included unless a germline change in the same gene results in disease.
One goal of this project is to solicit input and feedback from other clinicians and researchers. Please contact us with your input.
The CGD was last updated on April 01, 2016.