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'All of Us' Precision Medicine Initiative Is Getting Underway!

Posted: Tue Mar 27, 2018 11:34 pm
by circular
The Precision Medicine Initiative, launched during the Obama administration, is in beta phase and has enrolled about 30,000 participants in a project to collect big data for use by health researchers from 1 million or more Americans.

I got really excited about this at a talk tonight. Much of the logistics are still in the planning phase, but a lot has also been set up and is underway. They seem to be approaching the whole project with the participants' best interests in mind, calling them 'partners'. Ultimately (2019) participants will have access to their blood, urine, genomic and other results through a portal. They are working out all the issues involved with releasing the genetic information, need for counselors etc, so they're working to enable the participants to own their data in a responsible way. All the labs will be run through credentialed laboratories so that participants' doctors can justify using them clinically.

Mayo is handling all the blood samples. Vanderbilt is managing the big data, which rather than being stored online, will be offline until a given researcher's proposal for use of the data is approved, and then only that data subject to the research project would be released to those researchers. The data will be separated from personal information everywhere except at the participants' portals. Insurance companies and others will not have access to the genomic and other data (according to the presenter I heard). If you consent to your data being included in a research project, and those researchers need more data from you, then you can consent to additional samples, images ... and again, the results go to your portal.

This seems like a great opportunity for us, although the fact is that if they get to 1,000,000 participants, our 'little' forum participating will be dwarfed by all the ApoE4 carriers enrolling who don't know their status, let along about us here. Taking the long view, this is going to be a huge set of big data for researchers to mine, and Alzheimer's researchers will be among them. I spoke with the presenter afterward and he said that one of the big whigs (my words) at the Banner Alzheimer's Institute is on one of the planning committees with him. I'm not sure if ApoE4 will be included in the initial testing, but this video update on the genetics part of the data gathering suggests it will be, since they're preparing for whole genome sequencing, at least for some participants. Do you realize that means, I think (!), that these participants would have access to their whole genome data!? They are literally planning to fund and launch sequencing centers to handle the load.

They also plan to include wearable data, starting with FitBit and then expanding to other brands. They're in talks with FitBit about how they could anonymize the wearable data for the data bank.

One thing that doesn't make sense to me... I was told they are only taking about three tablespoons of blood at the outset. It doesn't seem like you can test much in that!? Heck, I've had 21 tubes drawn at once. So I'd expect the blood biomarkers to be fairly basic unless more is requested down the road. I don't think any imaging is being done, but researchers using the data for a subgroup might request images or other data needed for their research goals.

It will be interesting to watch this unfold. I plan to take part in the beta phase available to people who already have some healthcare connection to one of the first four recruiting centers. More info with lots of short videos here.

Re: Precision Medicine Initiative Is Getting Underway!

Posted: Wed Mar 28, 2018 6:42 am
by NF52
Great info, Circ!
Makes sense that Vanderbilt is handling the 'big data. I read a few days ago that they have used "machine learning" (computers that continuously refine algorithms based on new data to identify patterns that would go undetected by humans) to identify previously undiagnosed genetically-influenced disease from electronic health records.
Study spots undiagnosed genetic diseases in EHR
The authors theorized that many patients currently diagnosed with issues such as heart failure, stroke, infertility or kidney failure might actually be suffering from a rare genetic disease. If that underlying disease could be identified, it may have a specific treatment preventing the symptoms from recurring or getting worse...The research also provides an important insight into the nature of disease inheritance. Until now, physicians have assumed that genetic diseases called “recessive” require two mutations (one from each parent) to become symptomatic. However, the researchers found that only one variant was enough for some diseases to impact a patient’s health.

“In view of our findings, familiar medical categories such as ‘complex’ versus ‘genetic’, or ‘dominant’ versus ‘recessive’ begin to appear more like continuums,” said Bastarache.
{Emphasis added}

Having worked in special education with the children of three sisters who had variable, but significant developmental disabilities that only years later could be identified as the newly discovered Fragile X syndrome, it's always seemed obvious to me that "variations on a theme" doesn't just happen in music. Alzheimer's is likely to be an orchestral suite of variations on a theme, with variable contributions from the genetic wind instruments, brass, strings, percussion etc. It may make sense for now to follow both the amyloid prevention hypothesis and the 36-holes prevention hypothesis. But I suspect in a decade or so, we will see that we are variously blessed with genes whose melodies we can alter as conductor, or replace as music director.

Re: Precision Medicine Initiative Is Getting Underway!

Posted: Wed Mar 28, 2018 7:30 am
by circular
Or, listening to highly sophisticated symphonic music every day will bring everything into alignment and the musicians will have the last laugh! :D

Re: Precision Medicine Initiative Is Getting Underway!

Posted: Wed Mar 28, 2018 7:41 am
by NF52
My husband, who has great musical tastes (and memory) is set then. As for me, I wake up today stuck with the refrain of the Heigh Ho song: "We dig, dig, dig, dig, ,,,"from Snow White that my 5 year old granddaughter was listening to yesterday! Probably an independent and unrecognized biomarker!

Re: Precision Medicine Initiative Is Getting Underway!

Posted: Wed Mar 28, 2018 10:13 am
by MarcR
Thanks for the PMI intro, circular. I'm game to be a "partner" and will join when the time comes.

The large number of tubes of blood taken during regular medical lab testing are all about workflow and legacy standards. Different machines test for different things, and they're designed to process barcode-labelled tubes. And some tubes have anticoagulant or other admixtures designed to support particular test types. For historical reasons, the tubes are large, and you need a critical mass of blood in each to support the automated handling and sampling. The actual analytic components within the test machines each operate on a tiny droplet of blood.

In a project like this one, the workflow will be optimized for performing the same extensive analysis on each sample, so I expect they'll be feeding only one or a few droplets per sample into one or a few machines. Will they be storing samples for possible future reanalysis? If so, small sample size will also support efficient long-term storage.

Re: Precision Medicine Initiative Is Getting Underway!

Posted: Wed Mar 28, 2018 8:34 pm
by circular
Thanks for that explanation Marc! I knew some but not all of that. I wonder how many more of us will do it.

Re: Precision Medicine Initiative Is Getting Underway!

Posted: Thu Mar 29, 2018 8:35 am
by ru442
Lol Marc.... to your point just this week I gave 43 vials for my Bredesen Protocol testing. Had to stick me 3 time cause I clot so fast... I'll post more in my story as time permits.

Re: Precision Medicine Initiative Is Getting Underway!

Posted: Fri Mar 30, 2018 1:13 pm
by LuckyLyndi
Thank you circular for sharing this information, I registered online yesterday. Although I am aware and a bit nervous to share personal information I do believe our contribution to creating Personalized Medicine requires us to be brave and trusting.

I am brave and work hard to be trusting with my data, especially in this current environment.
Being ApoE4/4 - I am excited to participate in research that will pave the way to a cure!!

Thanks to each and every one of you, our community gives me strength and motivation beyond understanding.

Re: Precision Medicine Initiative Is Getting Underway!

Posted: Fri Mar 30, 2018 3:37 pm
by circular
Great LL! Except for the fact there are no guarantees in life, I walked away from the presentation feeling pretty confident in the data protection. So many lessons have been learned in recent years and they seemed to be taking them all on board.

Re: Precision Medicine Initiative Is Getting Underway!

Posted: Thu Apr 05, 2018 5:58 am
by Jordan
This is incredibly interesting and encouraging!

The website for the NIH "All of Us" project is here:, and very informative. The sign-up page to participate is here: