21st Century Cures Act--What’s Next:

The All of Us Research Program

Joni Rutter, PhD

Director of Scientific Programs

All of Us Research Program

Clinical Research Forum

September 25, 2017

THE 21ST CENTURY CURES ACT AND PMI

Sec. 1001. NIH innovation projects

Sec. 2002. EUREKA prize competitions

Sec. 2011. Precision Medicine Initiative

Sec. 2036. High-risk, high-reward research

Sec. 2040. Improving medical rehabilitation research at the National Institutes of Health

Sec. 2061. National neurological conditions surveillance system

Sec. 2062. Tick-borne diseases

Sec. 2071. National pediatric research network

Sec. 2072. Global pediatric clinical study network

Codifies and

authorizes PMI

PMI INITIATIVE

Sec. 2011.

Apply genomics: Whole Genome Sequencing

Establish a diverse cohort

Cross Agency interactions to advance technology

and its applications for the initiative

REACHING THE UNDERSERVED

Sec. 2044. Sense of Congress on increased

inclusion of underrepresented populations

“Catch-all” for provisions on meaningful

inclusion of:

Racial/Ethnic Minorities

Sexual and Gender Minorities

Women and Female Biological Models

Understudied Age Categories

“Other”

Participants in the All of Us Research

Program will be true partners—not patients,

not subjects—in the research process

Involved in:

• What data we collect

• What lab analyses we do

• What research is conducted

• How data gets returned

A Transformational Approach to Participation

Participant advocates involved in: Awards; Governance; Protocol Development; Workshops

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Direct

Volunteers

Health Care Provider

Organizations

(incl EHR)

Top priorities and enrollment paths

⦿ Rich, Longitudinal Resource: Deliver a national

resource of deep clinical, environmental, lifestyle, &

genetic data from one million participants who are

consented & engaged to provide data on an ongoing,

longitudinal basis

⦿ Diversity of Participants: Reflect the broad diversity

of the U.S.—all ages, races/ ethnicities, gender, SES,

geographies, & health status—by over-recruiting those

underrepresented in biomedical research

⦿ Diversity of Researchers: Build the tools &

capabilities that make it easy for researchers,

participants, and citizen scientists to make discoveries

using the data & biosamples and through ancillary

studies with the program

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BIOBANK

Repository for processing, storing,

& sharing biosamples (35+M vials)

Mayo Clinic

HEALTH CARE

PROVIDER ORGS (HPOs)

Clinical & scientific expertise network,

enrollment & retention of participants

20+ regional med centers, FQHCs, VA,

future awards to grow network

DATA AND RESEARCH

CENTER (DRC)

Big data capture, cleaning, curation,

& sharing in secure environment

Vanderbilt, Verily, Broad Institute

PARTICIPANT CENTER

Direct volunteer participant enrollment,

digital engagement innovation, &

consumer health technologies

Scripps Research Institute

(with multiple partners)

Major building blocks of the research program

PARTICIPANT

TECHNOLOGY

SYSTEMS CENTER

Web & phone-based platforms for

participants

Vibrent Health7

COMMUNICATIONS &

ENGAGEMENT

Comms, marketing, & design expertise;

Engagement coordination & community

partners network

Wondros, HCM, future awards to

grow network of community partners

Illinois Precision Medicine Consortium

University of PittsburghPittsburgh, PA

University of Arizona (w/Banner Health)Tucson, AZ

New York City Precision Medicine ConsortiumNew York City, NY

California Precision Medicine ConsortiumSan Diego, CA

New England Precision Medicine ConsortiumBoston, MA

Trans-American Precision Medicine ConsortiumDetroit, MI

FQHC Pilots

Regional

Medical

Centers

Hudson River HealthCare Peekskill, NY

Cherokee Health SystemsKnoxville, TN

Eau Claire Cooperative Health CentersColumbia, SC

San Ysidro

Health CenterSan Ysidro, CA

Jackson-Hinds Comprehensive Health CenterJackson, MS

Community Health Center Middletown, CT

A Growing Network of Health Care Provider Organizations

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Southern ConsortiumMontgomery, AL

SouthEastEnrollment CenterMiami, FL

All of Us WisconsinMarshfield, WI

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Invent Network of Direct Volunteer Partners

⦿ Comparing costs, quality, & capacity during beta

⦿ Potential capacity from these partners

• 30,000+ locations

• Reach 90%+ where all people live, within 20 – 45 minutes

⦿ Initial Recruitment Strategy (spread out from city hubs)

• Random Individuals: Call Center assisted or online self-enrollment, plus “cluster” scheduling of biospecimens capture “tours” that target priority areas & communities; open for 4 to 12 month periods of time

• Fixed Communities: Community Partner Awards + nearby DV Locations = act as a “mini HPO” for sustained recruitment, relationship building

• In Home: Used reactively or proactively for key participants & communities with high frailty, disabilities, safety issues, or other issues

Quest: 2000 locations.

BCBS: 106M members across 36 regions

Once proven, this capability— “to go where the people are”—may prove valuable to all of NIH!

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Current Consortium Members

DV Network

(Direct Volunteers)

HPO Network

(Health Care Provider

Organizations)

Communication & Engagement

RMCs

California PrecisionMedicine Consortium

IllinoisPrecisionMedicineConsortium

New EnglandPrecisionMedicineConsortium

Trans-American Consortium for the Health Care Systems Research Network

New York CityPrecision MedicineConsortium

Platform Development

University of Arizona University of Pittsburgh

Southern All of Us Network

SouthEastEnrollment Center

All of Us, Wisconsin

Community Partners

FQHCs (Federally Qualified Health Centers)

VAMedical Centers

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Summary: IRB-approved version 1 of protocol

• Recruit 18+ years old

initially; plan to

include children in

next iteration

• eConsent or paper

long-form

• Participants complete

additional consent to

share EHR data and

genomic data

Enroll, Consent

(EHR + Genomics)

Surveys Physical

MeasurementsBiosamples

• Three initial

participant provided

information modules:

The Basics, Overall

Health, & Lifestyle

• Blood pressure

• BMI

• Heart rate

• Height

• Hip circumference

• Waist circumference

• Weight

• Blood (or saliva, if

blood draw is

unsuccessful)

• Urine

• 28 aliquots of blood

and 6 of urine stored

in Biobank

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“What’s the genomics plan?”

⦿ Recommendations from the ACD Working Group:

• “…very large investments such as whole genome sequencing for large numbers of individuals need to be keyed to

specific scientific use cases that are compellingly cost-effective at the current time…”

• “…establish a mechanism to obtain ongoing expert advice on when the costs and capabilities of laboratory methods

have achieved a “tipping point” where scientific value justifies whole-cohort sequencing, proteomic, or other omic

assessments…”

⦿ We have started the process of determining AOU’s genomic plans:

• Gathered feedback from potential participants in

different communities on their concerns/hopes

• Held Return of Genetic Results Workshop

with internal and external experts

• Kicked off Genomics Working Group

of the Advisory Panel, in partnership with NHGRI

• Expect to have a “get started” plan this fall/winter

Success will require that health data is portable, and can be easily shared between

providers, researchers, patients, and research participants.

Enabling patients to access their EHR data easily, including to contribute it for research

⦿ OCR guidance clarifying HIPAA right of access:

• Form and format

• Fees, timeliness

• Right to share with research

⦿ ONC collaboration around pilots of standards that support health IT interoperability

for research

• Sync-4-Science: collaboration with leading EHR vendors

• Pilot the use of open, standardized APIs to give individuals the ability to access and contribute their health data to All of Us

A Data and Technology Framework to Accelerate Precision Medicine Research

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14 Sync-4-Science Pilot Sites

SEC. 2012.

PRIVACY PROTECTION FOR HUMAN RESEARCH SUBJECTS

Sec. 2012: Privacy protection for human research subjects. Reinforces the coverage of Certificates of Confidentiality, including:

Mandatory for applicable Federally-funded research

Prohibits disclosure (exceptions apply)

Strengthens their power to protect privacy through limiting lawful disclosure and use of protected information and materials.

Protects relevant information and material ad perpetuum

Sec. 2013: Protection of identifiable and sensitive information. Creates a FOIA exemption 3(b) statute:

prevents disclosure of biomedical information collected or used during research in the possession or guardianship of the federal government that is deemed identifiable or potentially identifiable.

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Protecting PMI Cohort Program Participants’ Data

⦿ Certificates of confidentiality

•allow researchers to refuse to disclose names or other identifying characteristics of

research subjects in response to legal demands.

⦿ Adherence to the PMI Privacy and Trust Principles and Data Security Policy Principles

and Framework

⦿ Federal Information Security Management Act

•Established to protect government information, operations and assets against natural or

man-made threats

•NIH Security Assessment and Authorization process

⦿ Single, central All of Us Research Program IRB

⦿ HIPAA Rights of Access for participants

•to provide individuals, upon request, with access to the protected health information (PHI)

about them in one or more “designated record sets” maintained by or for the covered entity.

⦿ Version 1 protocol tested & IRB approved

⦿ Completed security plan/tests = Authority to Operate

⦿ Call center & command center up & running

⦿ Enrollment website & participant portal up & running

⦿ Direct Volunteer capability & network established

⦿ Completed end-to-end “dress rehearsals” nationally

⦿ Launched beta phase: real people, protocol, platforms

⦿ ~3500 participants registered

⦿ Established scientific engagement and collaboration across the NIH Institutes

⦿ Established community partner awards to help increase diversity

⦿ Kicked off WGs on genomics & enrollment of children

Since November…

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Thank you!

Precision Medicine Initiative, PMI, All of Us, the All of Us logo, and The Future of Health Begins With You are service marks of the U.S. Department of Health and Human Services.

All of Us Research Program Mission and Objectives

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Our missionTo accelerate health

research and medical

breakthroughs, enabling

individualized prevention,

treatment, and care

for all of us

1. Nurture relationshipswith one million or more

participant partners, from all

walks of life, for decades

3. Catalyze a

robust ecosystemof researchers and funders

hungry to use and support it

2. Deliver

largest, richest

biomedical

dataset everthat is easy, safe,

and free to access