Comment by astroH | Hacker News Reader

Comment by astroH | Hacker News Reader

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Thanks so much for the comment. That's a really great way to describe the distinction! In terms of genetic counseling, for post-test purposes, we won't release positive results until the patient has booked a session with one of the genetic counselors where the results are released. In the case of negative results, we give the patient the option to discuss with a counselor but do not make it mandatory. In both cases, the counseling is included in the cost of the service. For pre-test counseling, the way it currently works in our service is that when users request a test, they have to fill out a detailed medical intake questionnaire which is then reviewed by both a genetic counselor and a physician. Right now, it is up to the discretion of the genetic counselor that reviews the information whether they feel like they should reach out to the patient and discuss how this may impact them or whether they have requested the appropriate test. If demand increases significantly for pre-test counseling, this is definitely something we will able to add moving forward.

That all makes sense. My question was more from a business logistics perspective - are you employing the counselors, or outsourcing to a third party? There is a lack of supply in that market and depending on growth, you may find it difficult to hire a large group of counselors. If you are outsourcing, be cognizant of who you are using as a vendor.

My fund's investment is in the genetic counseling space so I'm biased, but one of the issues to consider is using a lab-affiliated counseling group vs. truly independent counseling group. Another issue is, some counseling companies are focused on physician authorization (pre-test approvals to increase test volume) while others are focused on return of results, ongoing counseling etc. (the latter being more expensive).

Anyway, all things to think about. I also echo some of the other comments here around competing vs Invitae, Color, etc. They are all-in-one shops with scale and can be formidable - but also a potential exit opportunity if you've developed any unique/defensible IP.

Happy to chat more over email if you'd like.

At the moment, we are currently outsourcing genetic counseling. We simply don't have the capacity at the moment to bring that in-house. Very happy to discuss further over email (harley@probablygenetic.com). One thing to consider is that for many of these other companies that are doing genotyping or panels, a lot of the analysis can be automated. For exome and genome testing, this is not currently the case and there is plenty of space to develop IP in that regard.

Can you expand a little bit on the physician-ordered aspect then? Was this purely a policy decision that your team made or did you arrive at it through regulation or related externalities? If the former, was there any particular concern that drove the decision?

Sorry, one additional question. Is your company willing to do testing on pathology samples (i.e. from a biopsy) as well or just from the collection method that you ship to the customer?

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.

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.

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