WHITEPAPERS

KEY TAKEAWAYS FROM MULTI-STAKEHOLDER SUMMITS TO ADVANCE PRECISION MEDICINE (2017-2023)

2023 WHITEPAPER

SYNOPSIS

At this Summit, sessions dove deep into the changing paradigm of cancer screening and surveillance, the state of rare disease drug discovery, and precision medicine in adults beyond oncology. The continuation of the “case study” format enabled participants to share successes in multi-stakeholder collaboration. Finally, individuals shared powerful stories of their personal journey with precision medicine as patients and advocates. 

Three impactful themes emerged that differentiated the discussion from previous meetings:

  1. While diagnostic testing provides an unprecedented number of useful applications, the frameworks for understanding the benefits and outcomes across the care continuum are insufficient.

  2. The technology for precision health has largely arrived, but the patient experience has not.

  3. Precision health will be more than genomic; it will be multi-omic.


Download the whitepaper to read more.

2022 WHITEPAPER

SYNOPSIS

At this Summit, sessions dove deep into prevention and population screening, rare disease diagnostics, and molecular oncology. In addition, a new “case study” format enabled participants to share successes in multi-stakeholder collaboration fostered among organizations and individuals who have participated in previous Summits over the years.

Five impactful themes emerged that differentiated the discussion from previous meetings.

  1. A new paradigm of recurring testing is taking hold, raising many challenges and opportunities.

  2. A “genome for everyone” is not coming soon despite the growing evidence of the benefit of whole genome sequencing (WGS).

  3. Leading electronic health record (EHR) vendors have released genomics modules, but transmission of structured test results remains infrequent.

  4. Automation in prior authorization is happening on a pilot basis.

  5. Direct patient engagement is driving valuable genomics use cases.


Download the whitepaper to read more.

2021 WHITEPAPER

SYNOPSIS

Uniquely this year, the group took stock of the enormous impact of the COVID-19 pandemic on science, technology, policy, consumer expectations, and the healthcare system as a whole. In addition, sessions dug deep into precision oncology, data and learning systems, and evidence development in the genetic testing space.

In particular, three impactful themes emerged that differentiated the discussion from previous meetings.

  1. The COVID-19 pandemic sent clinical diagnostics and digital health infrastructure trends into overdrive.

  2. Evidence development is undergoing a radical and irrevocable change in response to a growing appetite for rapid, targeted, distributed clinical trials and real world evidence.

  3. Democratization of healthcare through access to technology is accelerating.


Each of these is unpacked in the paper, and a call for case studies at the upcoming Summit is issued.

2019 WHITEPAPER

SYNOPSIS

As genetics extends into clinical and consumer marketplaces, healthcare stakeholders face a growing set of challenges. In order to meet expectations and deliver on the promise of precision medicine, an effective cross-stakeholder information network for genetics is needed. Operationalizing such a network requires active collaboration.

At the 2019 Summit, the following key themes emerged:

  1. Diagnostics is (still) a data business. Genetic data interoperability is vital, yet lacking.

  2. Security and privacy models are not sufficiently mature to enable clinical care, data sharing, and research.

  3. Gaps in genetic knowledge are widening between healthcare stakeholders. This mismatch is creating friction in the system.

  4. Patients and consumers want access to personalized care on their terms. This will require significant advances in system integration.

  5. As healthcare moves to value-based care, the importance of genetics must be understood alongside other factors, such as social determinants of health.


The substance of this discussion was documented for this Whitepaper, which includes key implications important topics of discussion for the 2020 Genetic Health Information Network Summit.

2018 WHITEPAPER

SYNOPSIS

Despite concerted efforts from stakeholders across the healthcare system, challenges persist in delivering precision medicine reliably, efficiently, and cost-effectively. Because critical challenges manifest at the intersections between stakeholder—or are inherent to the information systems that connect them—no individual stakeholder can solve them alone. Instead, active collaboration is required.

At the 2018, the following key themes emerged:

  1. Frameworks and transparency around test quality and value remain limited

  2. Data has replaced oil as the world’s most valuable resource

  3. The promise of precision cures is becoming a reality, but barriers remain

  4. Providers still need genetics incorporated into their workflow

  5. Consumers are driving the market and forcing a health system response

  6. Disruptors are coming from outside of healthcare


The key implications of this discussion were documented for this Whitepaper, which include important topics of discussion for future events.

2017 WHITEPAPER

SYNOPSIS

Genetics offers enormous promise for human health, and for enabling our healthcare system to deliver better outcomes and greater value. However, the practical barriers to integrating genetics into clinical care delivery are undeniable. Because genetics is inherently data-intensive, critical challenges relate to the data and digital infrastructure that span across research, care delivery, and payment.

At the inaugural Genetic Health Information Network Summit, a group of leaders from across the healthcare ecosystem came together to discuss the shortcomings and potential improvements to the infrastructure connecting genetic information in healthcare. The group surfaced five core issues:

  1. Genetic testing laboratory quality and patient safety;

  2. Clinical validity, utility, and value assessment at scale;

  3. Genetic test identification for market tracking, evidence-gathering, billing, and payment;

  4. Provider education, communication, and support at the point-of-care; and

  5. Patient access and control of genetic data.


The substance of this discussion was documented for this Whitepaper, which includes key observations and most promising potential solutions.

PAST AUTHORS & ORGANIZERS

Titles and organizational affiliations are reflective of the time of the previous Summit and may have since changed.

  • FRANCIS COLLINS, MD, PhD

    Acting Science Advisor to the President of the United States
    White House

  • CARLOS BUSTAMANTE, PhD

    Founder & CEO
    Galatea Bio

  • TRISH BROWN, MS, CGC

    Genomics and Precision Medicine Program Director
    Aetna

  • GILLIAN HOOKER, PhD, ScM, CGC

    Chief Scientific Officer
    Concert Genetics

  • SUZANNE BELINSON, PhD, MPH

    VP, Commercial Markets
    Tempus

  • PRISCILLA ALFARO, MD

    VP, Payment Integrity
    BCBS North Carolina

  • VINCENT NELSON, MD

    SVP & Deputy CMO
    Centene

  • ROBERT NUSSBAUM, MD

    Chief Medical Officer
    Invitae

  • ANDY CORTS

    SVP, Research & Analytics
    SignalPath, a Verily company

  • BEN HO PARK, MD, PHD

    Professor & Director, Division of Hematology and Oncology
    Vanderbilt University Medical Center

  • ESTEBAN LÓPEZ

    Chief Medical Officer, Clinical Strategy Innovation
    HCSC (BCBS of IL, MT, NM, OK & TX)

  • SIMON BARNETT

    Genomics Analyst
    ARK Invest

  • DEE ANNA SMITH

    CEO
    Sarah Cannon

  • GEORGE CARDOZA

    Senior Vice President, Chief Financial Officer
    NeoGenomics

  • SEAN HOFHERR, PhD

    Chief Scientific Officer
    GeneDx, Inc.

  • JULIE M EGGINGTON, MS, PhD

    Co-founder & CEO
    Center for Genomic Interpretation

  • ERYNN GORDON, MS, LCGC

    VP, Clinical Operations
    Genome Medical

  • NIKOLETTA SIDIROPOULOS, MD

    Medical Director, Genomic Medicine, Department of Pathology and Laboratory Medicine
    University of Vermont Health Network

  • PHILLIP FEBBO, MD

    SVP & Chief Medical Officer
    Illumina

  • HOWARD LEVY, MD, PhD

    Associate Professor of Medicine
    Johns Hopkins Medicine

  • KATE DONIGAN, PHD

    Deputy Director, Personalized Medicine & Molecular Genetics (acting)
    FDA

  • JILL HAGENKORD, MD

    Chief Medical Officer
    Optum Genomics

  • JIM JIRJIS, MD

    Chief Health Information Officer
    HCA Healthcare

  • BENJAMIN SOLOMON, MD

    Clinical Director, National Human Genome Research Institute (NHGRI)
    NIH

  • HOLLI DILKS, MD

    Senior Director, Global Head of Field Medical
    Foundation Medicine

  • ROBERT C. GREEN, MD, MPH

    Director, Genomes2People
    Division of Genetics at Brigham and Women’s Hospital, the Broad Institute and Harvard Medical School

  • JEFF EMCH

    VP, Diagnostics Strategy, Global Oncology Marketing
    GSK

  • NICOLE BOICE

    Founder & CEO
    Global Genes

  • DAVID MCCALLIE, MD

    SVP, Medical Informatics
    Cerner

  • EDWARD ABRAHAMS, PhD

    President
    Personalized Medicine Coalition

  • TAHA KASS-HOUT, MD

    Former 1st Chief Health Informatics Officer
    U.S. Food and Drug Administration (FDA)

  • GIL ALTEROVITZ, PhD

    Director, Biomedical Cybernetics Laboratory
    Harvard Medical School

  • KRISTINE BORDENAVE, MD

    Corporate Medical Director
    Humana

  • JOSHUA DENNY, MD

    Professor of Biomedical Informatics and Medicine
    Vanderbilt University

  • JAMES O’LEARY

    Chief Innovation Officer
    Genetic Alliance

  • HENRY GARLICH

    Director, Healthcare Value Solutions & Enhanced Clinical Programs
    Blue Shield of California

  • JIM ALMAS, MD

    VP & National Medical Director for Clinical Effectiveness
    LabCorp

  • MARA ASPINALL

    Managing Director and Co-Founder
    BlueStone Venture Partners

  • TRENT HAYWOOD, MD, JD

    SVP & Chief Medical Officer
    Blue Cross Blue Shield Association

  • STEPHANIE DEVANEY, PHD

    Deputy Director, All of Us
    NIH

  • EDMUND JACKSON, PHD

    Chief Data Officer
    HCA Healthcare

  • LISA ALDERSON

    Co-founder & CEO
    Genome Medical

  • DEBRA ESSER, MD

    Chief Medical Officer
    Blue Cross and Blue Shield of Nebraska

  • LAURIE MCGRAW

    SVP, Health Solutions
    American Medical Association

  • KATHRYN LANG, MD

    Global Medical Strategy Head of Data Science
    Pfizer

  • MATT MIGHT, PhD

    Director, Hugh Kaul Personalized Medicine Institute
    University of Alabama at Birmingham

  • VICTORIA PRATT, PhD

    President
    Association for Molecular Pathology

  • DAWN BARRY

    Co-Founder and President
    Luna DNA

  • ELI CASDIN

    Chief Investment Officer
    Casdin Capital

  • ELLEN MATLOFF, MS, CGC

    President & CEO
    My Gene Counsel

  • JULIE RAMAGE

    National Accounts Director, Diagnostics
    Pfizer

  • ALEX DE WINTER

    Managing Director
    GE Ventures

  • NICK NACLERIO, PhD

    Founding Partner
    Illumina Ventures

  • BRYCE OLSON

    Global Marketing Director, Health and Life Sciences
    Intel