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Add technical documentation about discordances
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# Discordances | ||
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Discordances are only currently enabled in the Shariant environment. The definition of a discordance follows the one used by ClinVar - by dividing clinical significances into 3 buckets: | ||
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Bucket 1: Benign, Likely Benign | ||
Bucket 2: VUS, VUS-A, VUS-B, VUS-C | ||
Bucket 3: Likely Pathogenic, Pathogenic | ||
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If for any given allele with multiple classifications, if they fall into two or more buckets, a discordance is raised. | ||
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## Clinical Groupings | ||
_formerly clinical contexts_ | ||
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While not heavily exposed in the interface currently, published classifications are assigned to a clinical grouping, and the clinical groupings are assigned to an allele. | ||
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This will allow us to sub-divide classifications within the same allele by condition, if the conditions were significantly different. | ||
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## Discordance Report | ||
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A DiscordanceReport marks the start, and optionally the end, of a discordant state for a clinical grouping. | ||
The general hope is, when the relevant labs are presented with a discordance report, they will discuss between themselves how to solve it. | ||
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## Review | ||
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VariantGrid can support many kinds of Reviews, though as of this writing (July-2023) the only review type supported is for DiscordanceReports. This gives the users a template where they can record why they believe a discordance occurred in the first place and how it was (or wasn't solved). | ||
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## Future Development | ||
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A DiscordanceReport is opened when a discordance is first detected, and closed when it's resolved - or when users agree that it can't be solved. Determining if a DiscordanceReport is at "pending concordance" is a live calculation rather than stored in the database. | ||
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These can result in some messy edge cases - we would prefer it if a DiscordnaceReport is marked as "can't be solved", it technically doesn't close but is marked as a certain status. |