Sunday, August 25, 2019

My Thoughts on Offering Genetic Counseling for "All of Us" from Color

I was initially not certain what to think when I saw that the NIH made a 4.6 million color deal with Color of genetic counseling support for the "All of Us" program (and perhaps there are still some things that I don't completely understand).

I was previously OK with DNAnexus providing support for the precisionFDA program (although I much more strongly support the on-going benchmarks that can be provided for free, versus the original competition).  However, I believe my feelings are a little different for Color supporting All of Us.

First, participation in the All of Us program is not completely without barriers to entry.  For example, I haven't been selected for sequencing, but I was selected for specimen and data collection (blood, urine, height/weight, Fitbit measurements, survey questions, etc.).  In order to do that, I went to USC to have my samples collected (even though I work at City of Hope), although it looks like the list of partner centers may have expanded.

If you were just collecting spit, connecting with the Patient Initiated Testing companies (including but not limited to Color) would help people be involved.  However, as I note for some at-home blood collection tests, I actually prefer having a professional draw my blood.  Most importantly, if you did go to a partner center to collect your biological samples, it seems to me that you probably have a somewhat close way to have a face-to-face meeting with a genetic counselor.  So, in that sense, I wonder why they didn't choose to create infrastructure internally and help provide way to find independent genetic counselors.  I believe Aenta only covered talking to a genetic counselor on the phone (through one genetic counseling company), but I didn't have to worry about insurance coverage for my All of Us sample collection (I actually got a small gift card for my donation).  In other words, if the US government is helping cover the salaries of local genetic counselors (in addition to insurance), that seems like something I might prefer to support over Color.  Or, even without direct funding, helping people find genetic counselors (kind of like you can do on the National Society of Genetic Counselors website) and/or get a better feel for what can or cannot be robustly predicted with genetics seems like a good fit for the All of Us program.

Plus, I believe I had to wait about a month to be able to talk to a clinical pharmacist through Color (with their current set of customers, and with somebody who essentially had enough time to verbally describe the current content of the reports); so, I wonder if you may be able to talk to a different genetic counselor more quickly (and/or find a counselor with more specialized knowledge).

My second possible concern is about what exactly is meant by "technical backbone" (in a different article).  Even though I don't mention Color very much in my recent collection of posts on personal genomics experiences, I did have a subfolder for Color in my GitHub repository.  While I appreciate that they considered genomic data as PHI (meaning you had to be able to get access to your genomics data, under HIPPA), I wasn't really satisfied with the current return of raw data from Color (and I still don't have all of my raw data).  If I am just talking to Color, this isn't a huge deal (I realize they are busy with a lot of stuff).  However, if the US government is funding Color (at least in part) for infrastructure in returning raw data, then this could bother me.  On the other hand, if the plan is to return raw data through the All of Us participant portal (separate from this deal with Color), then I am OK with that.

I also found a 2018 story about a Color supporting All of Us along with two other centers.  However, I am confused why the All of Us website lists a different set of 3 centers (not including Color) on their website on that same date (9/25/2018).  So, perhaps there is something else that I am missing.

That said, the entire reason why I first ordered a test from Color is that I really liked their free public portal for finding more information about variants.  So, if this is what was meant by technical support, then I think that was good.

My third point may be less important, but I have another blog post that considers if the All of Us program can help with more directly providing patients with generic diagnostics (among other topics).  In this respect, I have mostly positive opinions about the connection with Color.  For example, the GenomeWeb article mentions the return of pharmacogenomics results (which I also mention in my GitHub notes); while that GenomeWeb article was emphasizing interactions between the FDA and the NIH, my GitHub notes talk about Color removing the mental health medication information (even though you can still see in that in my earlier uploaded PDF) when the Myriad GeneSight test is still available (even though I'm not entirely clear if those results have FDA approval).  So, if I could only choose between supporting Color or Myriad, I completely agree with the choice to support Color.  However, there are additional options and the situation is more complicated.  So, I thought it may be important to provide this post with my ideas (as a way to encourage further discussion).

Change Log:

8/25/2019 - public post date

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