President and Fellows of Harvard College

Scaling the Personal Genome Project to One Million Diverse Participants

Genetics

With genomes, health data and cells from openly consented and diverse participants, we are building a global resource so that everyone can access precision medicine.

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To learn more about – or provide significant funding to – this project, please contact Lever for Change.

Project Summary

The Personal Genome Project (PGP) aims to advance and democratize medicine for everyone—even people with currently intractable diseases or outside wealthy health systems. To do this we need to generate and harmonize complex individual datasets—including genomic, phenotypic, and medical data—representative of all humanity. This will help us understand why we get—or don't get—diseases and how best to prevent and treat them. Current and proposed efforts to address this (e.g. All of Us, Million Veterans Project, UK Biobank) are hampered by access restrictions and are country specific. Our unique approach is both public and global. Our resource is donated by openly consented participants who can be recontacted. Because data, software, cells and methods are open, anyone can assist the project without barriers—significantly facilitating volunteer contributions. With help from 100&Change, we will grow this invaluable open resource to a million diverse participants and revolutionize healthcare for all.

Problem Statement

The future of healthcare is precision medicine—healthcare based on you: your genetics, your environment, and health history. However, this future remains fuzzy—and seemingly futuristic—even with remarkable advances in sequencing technologies. How can we spark this next revolution in medicine? What if we could invest $100,000,000 to accelerate a biomedical breakthrough with comparable impact to sanitation, antibiotics, or vaccines? We believe the issue comes down to data, in particular the lack of access to integrated datasets of trait, health, and genomic data. Even highly qualified researchers face access challenges that keep them from making breakthroughs. Billions of dollars have been bet on the idea that the next wave of healthcare innovation will come from genomics. This investment, however, has poured into private, fragmented resources with insufficient investment in public domain resources that allow everyone to benefit. In large part, this is due to an unfounded belief that participants could not be ethically asked to consent to disclosure. Numerous silos have formed by government, company, or research institutions. Instead, public resources could allow volunteers and researchers who otherwise wouldn’t have access to this type of data to contribute to research including unprofitable/neglected areas such as rare or "orphan" diseases. Additionally, current genomic studies are heavily skewed to European Ancestry participants, and results often cannot be successfully applied to other populations. If the next wave of biomedical innovation will come from genomics, we should invest in a completely public resource that is representative of all humanity and available to the entire world.

Solution Overview

We will sequence and phenotype 250,000+ diverse participants from at least six countries through the global network of Personal Genome Project (PGP) organizations as well as provide free and open source software to integrate, manage and interpret these data. With our “open consent” approach participant data and samples are placed in the public domain without any use restrictions (Church). Fundamentally, this eliminates the access problems that are a necessary feature of existing “restricted access” cohorts. The PGP will make semi-annual, curated and harmonized “releases” which include: genomic data (Salzberg), phenotypic data (Haendel), educational and training materials (Teal), software (Zaranek). Participants can also be recontacted in cases of incidental findings or other follow-up. Participant recontact can be arranged via partnership with the PGP or, for participants that choose this option, via the Open Humans (Ball) platform—from there participants can self-enroll in numerous studies A catalog of biobanked cells and data generated from these cells will be maintained with the community (Salit). The value of this resource can be amplified by combining it with other public and private studies. Efforts including local student run events will educate the public about genomics and personalized medicine and perform projects with PGP data. Growing community awareness of the project will result in increased enrollment. Open consent benefits standardization efforts (e.g. GA4GH) by providing public data to develop against and enables a wide variety of biomedical research. Rare and complex disease “driver projects” (which are independently funded) will ensure the resource has high impact and utility.

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Project Funders

  • Google Inc.
  • BGI (previously Complete Genomics) 2015

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