Hacker News Reader

Comment by astroH | Hacker News Reader

It sort of determines how the FDA chooses to regulate. This was one of the issues that came up with 23andme in the beginning. The FDA chooses not to strictly regular physician-ordered lab-developed tests and thus the physician-ordering is sort of a key piece. Right now, we only accept saliva (and soon a cheek swab) that's sent in via one of our kits. Unfortunately, at the moment, we are not exploring doing sequencing on other samples.

View on HN

That makes sense. I don't know if you're expecting customers to find a doc that will be willing to order or if you're curating a list of docs that customers can select from, but in my experience the latter is much simpler to navigate.

My wife was in a situation where she was in the ragged edges of a common disease that made her eligibility for various trials and therapies suspect. She had a somatic mutation that would be nice to be able to fully catalog. There is a trial going on right now (MATCH [0]) that does selective testing for mutations and deficiencies in cancer patients that have some associated trial therapy. This is fine but outcomes are of course going to vary and developing a catalog that can be mined after the fact might help identify other areas to focus on.

Best of luck to you and your company!

[0] - https://www.cancer.gov/about-cancer/treatment/clinical-trial...

Really appreciate it! As a quick comment, we work with a physician network that has physicians licensed in all 50 states and they review the medical information of all of our patients. This way we don't put the burden on our users.

Nice. That's way better. Especially in the situation with rare maladies (or a combination of them) it doesn't take long for the layperson to know more about it than their local GP will. Trying to convince them to order a $900 lab for you would be an uphill battle in many cases.

> 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?

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.

Reply on news.ycombinator.com