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by ac29 2308 days ago
> The FDA chooses not to strictly regular physician-ordered lab-developed tests and thus the physician-ordering is sort of a key piece.

Does this mean you will be able to offer the sort of "you are X% more likely to get disease Y" information that the FDA prohibited 23andme from providing? If not, what information can you provide?

1 comments

Great question and something that I should have clarified. We look for mutations that are either considered pathogenic or likely pathogenic under the guidelines of the American college of medical genetics and genomics when considered with the other medical history of the patient. This is what we return to patients. This is considerably different than a "risk score" as you have pointed out. Other companies, like Color, use the physician ordered model to offer that sort of information for cancer risk and cardiovascular conditions. We focus on primarily on mutations associated with rare conditions. In principle, we could offer these other things as our test captures much of that information and we are looking to add this to the analysis in case patients are interested.