All of Us project

Digging Deeper into a Promethease Finding Before Accepting It as Truth

Digging Deeper into a Promethease Finding Before Accepting It as Truth

I recently worked with a client who was adopted and had used a raw data file and the Promethease tool as an avenue to obtain some health/medical information for herself.

This case gets a little complicated but please stick with it; it demonstrates a lot of the areas where there is weakness in our understanding and communication of medical genetics data.

The case also highlights the importance of doing deeper investigation of findings that show up on a Promethease report, before accepting the report’s summary at face value. I write about 23andMe and Promethease in the summary, but my conclusion is true for any tool (Genetic Genie, Sequencing.com reports, etc.) run on any raw data file (AncestryDNA, MyHeritage, etc).

How to enroll in "All of Us"

I received a great question through my website today: "How can I enroll in All of Us?"

If you're interested, visit this site: https://www.joinallofus.org and sign up for more details by clicking the "join now” button.

The project is in "beta testing" with 2,500 participants across 50 sites, to get the system up and running. According to this recent Genome Web article, the project will be opening to additional participants in spring 2018.

If you sign up now, expect to receive update emails that will give you more information over time. The All of Us website and Twitter are how I receive my updates, so I don't have any tips or insider info to share. 

Will signing up now lead to an earlier chance at enrollment? Not sure. But if you like to line up early for the best seat in the house, or generally live your life as the early bird going after the worms, I guess there's no harm in trying!

 

An update on "All of Us" - Enrollment Centers have been announced

The National Institutes of Health's "All of Us" study is a project I provide updates about every so often. Initially named the Precision Medicine Initiative when launched, it is a project whose announcement by President Barack Obama received bi-partisan applause and support. And for obvious reasons.

Visit https://allofus.nih.gov to read more about the project.

Visit https://allofus.nih.gov to read more about the project.

Genes are not political. Chromosomes aren't Democratic or Republican or Independent. We all have DNA in the cells of our body, 99.9% of it almost entirely the same as every person we run into in our lives (and even those we don't). But any day, any of us could get sick. And some medicines or treatments may work on us that don't on others (and vice versa). 

Sometimes a single change in the DNA sequence can make all the difference.    

I'm not privy to insider knowledge on the progress of All of Us, I just keep my eyes peeled for updates and pay attention when they appear. I sense things aren't running entirely smoothly (see some Twitter snark below, posted a few weeks ago). But it is a big project with lots of players involved. And in spite of great challenges a big project like this faces, announcements of progress continue.

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The latest news to come out is that the first three enrollment centers have been named for the project. They are three sets of health care provider organizations (in other words, hospital-research networks) based in Wisconsin, Alabama, and Florida.

Enrollment centers are the institutions that receive funding to coordinate the consent and enrollment for volunteers of a study. Sometimes, you'll have only one center for a study (here's a great site for searching for research studies, by the way). But for a project as big as All of Us is planned to be, multiple centers will be necessary.

Participants don't necessarily have to receive any care at these locations to participate. They are simply the enrollment hubs and coordinate the education and consent of participants. In other words, they're the wheels on the bus that make the project go all 'round the town.

From the start, it has been a stated and central goal of All of Us to enable discoveries that will be useful for all Americans. In the past, biomedical research in the U.S. has more often enrolled (and therefore given advantage to) Caucasian and male populations. There ought to be a way, in a project of one million people, for every group - minority and majority - to be represented. Anyone who has criticism for All of Us for trying to do this, well, I am just going to call you Scrooge. Someone needs to try, and they are doing it. Their choice of institutions for enrollment centers is first evidence All of Us is keeping their promise to make sure traditionally under-represented populations will not be under-represented in this project.  

I want to see this project succeed and hope it does. Everyone deserves to benefit.

If you're an early participant in All of Us (or know of someone who is), please reach out to me. I'd love to interview you for a post on my blog and ask what it was like to join, and why you did.   

 

"All of Us" is starting

I wrote about the "All of Us" study once before (here) and plan to continue with the updates.

In only one year since the announcement of its launch, the project has gone from an idea to having already registered Participant #1! Excellent work, those at the NIH and all of the partner centers. I know that was no easy task!

The project is in its "beta" phase, meaning the basic infrastructure is in place and a few people have been let in the door to see how the system is working. Tweaks will continue forever for any big project, but this is Major Tweaking Phase.

Interested in following this project? Learn more details here at the project's website and check back on the Watershed DNA blog.

 

 

 

The NIH "All of Us" Project

A few weeks ago, I had the amazing opportunity to participate on a panel at a workshop for the "All of Us" project. This NIH project (formerly referred to as the Precision Medicine Initiative) is in its early planning stages and aims to engage a million Americans from diverse ethnic backgrounds in large-scale genomics research.

The workshop was live-streamed and recordings are available for public viewing here: https://videocast.nih.gov/summary.asp?Live=21883&bhcp=1. The panel I participated on focused on "non-clinical" DNA results (the DNA findings that aren't directly health related, like ancestry). My presentation shows up around 4:34:59. AncestryDNA's CEO Ken Chahine spoke immediately before me and had some astounding information about the projected growth of their DNA database. There may be 5 million testers in their database by the end of 2017!   

The group of researchers moving the "All of Us" project forward are hard-working experts in their given fields, all with a common goal of making genomic discoveries available to and applicable to all. I can't wait to watch this project develop and hope I get the chance to participate once recruitment begins.