Description

Retrieves genetic diagnostic implications for variants.

Generally, the operation will be called with 'subject' and 'ranges' parameters, which will return diagnostic implications for patient variants in supplied ranges. Another common pattern is to call the operation with just 'subject' and 'conditions' to do a broad sweep of the patient's variants for any associated with the supplied conditions; or with 'subject', 'ranges', and 'conditions' parameters, which will limit the return to diagnostic implications for the supplied conditions in supplied ranges - this is useful, for instance, to see if a patient has any variants in a given gene that are associated with a given disease. For other combinations of input parameters, the operation returns diagnostic implications satisfying all parameters.

Where no variants, ranges, or conditions are provided, the operation returns no implications.

As shown in the following picture, this operation can return previously instantiated implications and/or dynamically computed implications. Specific implementations can indicate their capabilities using a FHIR Capability Statement. Rules around the retention of dynamically computed implications are outside the scope of this operation, but a server could potentially instantiate those results based on the Therapeutic Implication, Diagnostic Implication, or Molecular Consequence FHIR profiles.

The committee is actively seeking feedback on the feasibility of using this operation to return dynamically computed implications of structural variants.