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 inagural 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:
- Genetic testing laboratory quality and patient safety;
- Clinical validity, utility, and value assessment at scale;
- Genetic test identification for market tracking, evidence-gathering, billing, and payment;
- Provider education, communication, and support at the point-of-care; and
- 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.
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 stakeholders – 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:
- Frameworks and transparency around test quality and value remain limited
- Data has replaced oil as the world’s most valuable resource
- The promise of precision cures is becoming a reality, but barriers remain
- Providers still need genetics incorporated into their workflow
- Consumers are driving the market and forcing a health system response
- 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.
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, te following key themes emerged:
- Diagnostics is (still) a data business. Genetic data interoperability is vital, yet lacking.
- Security and privacy models are not sufficiently mature to enable clinical care, data sharing, and research.
- Gaps in genetic knowledge are widening between healthcare stakeholders. This mismatch is creating friction in the system.
- Patients and consumers want access to personalized care on their terms. This will require significant advances in system integration.
- As healthcare moves to valuebased 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.
Past Authors & Organizers
CARLOS BUSTAMANTE, PhD
Venture Partner
F-Prime Capital
ROBERT NUSSBAUM, MD
Chief Medical Officer
Invitae
GILLIAN HOOKER, PhD, ScM, LCGC
VP, Clinical Development
Concert Genetics
HENRY GARLICH
Director, Healthcare Value Solutions & Enhanced Clinical Programs
Blue Shield of California
BENJAMIN SOLOMON, MD
Managing Director
GeneDx
JULIE RAMAGE
Director, Precision Medicine Quality Initiatives and Partnerships
AstraZeneca
SHUVAYU SEN, PHD
Executive Director, Center for Observational & Real-World Evidence
Merck
MARA ASPINALL
CEO
Health Catalysts Group
SUZANNE BELINSON, PhD, MPH
VP, Commercial Markets
Tempus
DEE ANNA SMITH
CEO
Sarah Cannon
NICK TAZIK
VP, Growth
Concert Genetics
KARI ASUNCION
Utilization Management and Payer Relations Administrator
Mayo Medical Laboratories
SARAH BLAND, MPH
Project Manager
Vanderbilt Institute for Clinical and Translational Research
ROBERT BURTON, MS, PhD
Co-founder & President
Center for Genomic Interpretation
GEORGE CARDOZA
Senior Vice President, Chief Financial Officer
NeoGenomics
TRENT HAYWOOD, MD, JD
SVP & Chief Medical Officer
Blue Cross Blue Shield Association
LAURIE MCGRAW
SVP, Health Solutions
American Medical Association
PRISCILLA ALFARO, MD
Chief Medical Officer
Zelis
JOSHUA DENNY, MD
Professor of Biomedical Informatics and Medicine
Vanderbilt University
NICK NACLERIO
Founding Partner
Illumina Ventures
BRYCE OLSON
Global Marketing Director, Health & Life Sciences
Intel Corp.
MEGAN DOERR, MS, LGC
Principal Scientist
Sage Bionetworks
JULIE M EGGINGTON, MS, PhD
Co-founder & CEO
Center for Genomic Interpretation
GERALD FELDMAN, MD, PhD
Professor, Molecular Medicine and Genetics Wayne State University School of Medicine
MARY FREIVOGEL, MS, CGC
President
National Society of Genetic Counselors
ERYNN GORDON, MS, LCGC
VP, Clinical Operations
Genome Medical
RAGAN HART, PhD
Entrepreneur in Residence
F-Prime Capital
SEAN HOFHERR, PhD
Chief Scientific Officer
GeneDx
KATIE JOHANSEN TABER, PhD
Sr. Director, Clinical Development
Myriad Women’s Health
MARYANN JONES
Director, Corporate Health Care Policy
CareFirst BlueCross BlueShield
STEVEN KEILES, MS, LCGC
Senior Director, Genomic Services
Quest Diagnostics
HOWARD LEVY, MD, PHD
Associate Professor of Medicine
Johns Hopkins Medicine
JIM JIRJIS, MD
Chief Health Information Officer
HCA Healthcare
DAWN BARRY
Co-Founder & President
LunaDNA
KRISTINE BORDENAVE, MD
Corporate Medical Director
Humana
HANNAH MAMUSZKA
CEO
Alva10
KURT MATTHES
Vice President, Revenue Cycle Management Reengineering and Service
TELCOR
SEAN MCEVOY
Senior Director, Business Development
Blueprint Genetics
BRUCE QUINN, MD, PhD
Principal
Bruce Quinn Associates LLC
ALEX RYDER, MD, PhD
Director of Transfusion Services
Le Bonheur Children’s Hospital
NIKOLETTA SIDIROPOULOS, MD
Medical Director, Genomic Medicine, Department of Pathology and Laboratory Medicine
University of Vermont Health Network
KARI TIMOTHY
Director, Health Plans
Ambry Genetics
SUE TYLER
Principal
Sue Tyler, LLC
BAS VAN DER BAAN
Chief Clinical Officer
Agendia
MARK HARRIS, PhD
Founder & Chief Innovation Officer
Concert Genetics