astroH

9 ms·

31.
by astroH 7y ago
A service like that is definitely needed! Please feel free to get in touch via the contact address.
32.
by astroH 7y ago
Apologies for not getting to this earlier. Our in-house GC is est fit to answer this; however, as far as I am aware, CLIA only requires that we keep samples until the analysis is complete and results are returned to patients. They recomme
33.
by astroH 7y ago
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
34.
by astroH 7y ago
Ideally, it will be. They have different regulations as you are alluding to which makes it difficult for us at the moment.
35.
by astroH 7y ago
Just to elaborate on this, by analysis I mean understanding which mutation in the genome is pathogenic.
36.
by astroH 7y ago
I think this is really well put and something that we haven't considered (letting users download their data and then re-upload later). As long as we could ensure the data hasn't changed it could work. Unfortunately, we can'
37.
by astroH 7y ago
Thanks so much for the kind words and support!
38.
by astroH 7y ago
Very much appreciate the advice!
39.
by astroH 7y ago
Out of curiosity, would they be preferable because of pricing or simply because it fits your needs better?
40.
by astroH 7y ago
Cheers! :)
41.
by astroH 7y ago
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.
42.
by astroH 7y ago
YC was immensely helpful for us in a lot of ways. Definitely happy to go into more detail offline but two things I really liked were that there are so many companies in the healthcare space now that have come out of YC and regulation is a h
43.
by astroH 7y ago
Really great suggestion. We haven't tried accepting this yet but naively, I would imagine they should be. I wish I could give a more concrete answer but I will further look into the details and ask our in-house GC.
44.
by astroH 7y ago
So it's important to note we don't test for diseases but rather variants which may be the etiology. I'm not an expert in this condition by any means but a quick search says we still don't know the candidate genes for thi
45.
by astroH 7y ago
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
46.
by astroH 7y ago
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
47.
by astroH 7y ago
Invitae is definitely one of the most impressive companies in the entire genetic testing space. There are many companies that can offer exome testing, but as far as we are aware, in almost all other cases, you still need your own physician
48.
by astroH 7y ago
Yes, right now, we offer only in the US in all states except NY.
49.
by astroH 7y ago
Great question. Right now the major difference is the D2C (patient-initiated, physician-ordered) aspect. Invitae is starting to offer this to some extent but they mainly seem focused on cardiovascular and cancer. Unlike those companies,
50.
by astroH 7y ago
Yes, we do allow users to access their raw DNA. We will make VCF, BAM, and FASTQ files available if requested. We map the entire exome at 100x coverage which covers all genes.
51.
by astroH 7y ago
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 t
52.
by astroH 7y ago
I think that's a really good point. In fact, for many lab tests where the results are completely "cut-and-dry", this suggestion totally makes sense. For us, one thing we consider is that the diagnostic yield for these types
53.
by astroH 7y ago
Thanks so much for the comment! In order to offer this testing and give back a result report that can really be used by a doctor, it should be physician-ordered, processed in a CLIA-certified and ideally, a CAP-accredited lab, have the lab
54.
by astroH 7y ago
Great question. We use a CLIA-certified and CAP-accredited lab, and we must keep the specimen through the completion of the testing and result reporting. If there is any sample remaining after testing, we will hold onto it longer in case w
55.
by astroH 7y ago
Thanks for adding the link! Probably forgot the most important thing but just added the website :)
56.
Launch HN: Probably Genetic (YC W19): At-home DNA testing for every gene
109 points by astroH 7y ago|81 comments
57.
by astroH 7y ago
Based on the total flux, and photometry, usually they will assume a model for the star formation history. Sometimes a single burst, a constant star formation rate, an exponentially declining star formation rate, or maybe a combination of m