Protocol - for Assertions within Genetic Variant Databases



"Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics."

Guidance for Stakeholders and Food and Drug Administration Staff.

Page 11.

Has anyone had any experience in the 'Protocols' mentioned? I'm up to my eyebrows in Bioinfomaticians, and they do some real heavy lifting with scripts. Uh, software scripts. Like, python, json, etc.

In many of my prior lives, a Protocol was analogous to a Recipe, or a Work Instruction, or a Validation Test Plan, or a Job Order.

Here, it is generally solved through a snippet of code, or adding a reference library, or other method. (i.e. Not something written for a common human to read).

Anyone? Shed some light on what they expect in regards to 'Objective Evidence' that these "Protocols" are validated and publicly available?



Protocol: an evidence-based tool (e.g. decision matrix, scoring system, algorithm, etc.) used to guide the evaluation of the genotype-phenotype relationship between variants and diseases or conditions.
(from Page 8 of the same Reference document)

I'm just missing how to show Objective Evidence that the Protocols are validated (especially when the incorporate unique details of the gene/disease or conditions being evaluated).