“The Clinical Genomic Database (CGD) has been constructed to reflect the multisystemic nature of many genetic conditions in order to allow more comprehensive browsing by clinical categories. In the CGD, genes were first categorized into Manifestation categories, or the organ system(s) primarily affected by mutations in the corresponding gene. For many of these organ systems, recognition of the condition’s effects and related supportive care may be clinically beneficial. Conditions not grouped within a specific organ system under the Manifestation categories were included in the General category.
Next, genes were separately categorized under Intervention categories by the organ system(s) for which specific medical interventions were available. In determining the Intervention categories, the following points were considered: 1) the condition must be clinically significant (i.e., at least some manifestations must result in morbidity and mortality); 2) there must be a currently available, potentially beneficial intervention (this intervention may include preventive measures, surveillance, or medical and/or surgical treatments, though experimental/research-based interventions were not included); 3) there should be advantage to early (“genomic”) diagnosis as opposed to discovery of the condition on purely clinical grounds (i.e., without genetic/genomic testing). Regarding this last point, precise diagnosis is challenging for many conditions, and correct recognition based on genetic/genomic diagnosis may allow interventions related to specific manifestations. The efficacy of these interventions would be diminished or lost with later diagnosis, such as might occur based primarily upon clinical presentation.
For the Intervention categories, all genes not meeting the above criteria were included in the General category. As described, for many such conditions, while a more specific intervention may not be currently available, genetic knowledge may be beneficial related to a number of issues, including the selection of optimal supportive care, prognostic considerations related to medical-decision making, informing reproductive decisions, and avoidance of unnecessary testing as part of the diagnostic process.
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.”
Description source: National Human Genome Research Institute, N.H.G.R.I. (2016). NIH.gov. Retrieved 12 November, 2016.