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 most recent 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, which included health insurers, clinicians, hospital systems, researchers, policymakers, patient advocates, clinical laboratories, technology vendors, and drug developers, focused on 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, most promising potential solutions, and most important next steps for the 2018 Genetic Health Information Network Summit (Oct 1-3, Nashville) and beyond.
Authors
CARLOS BUSTAMANTE, PhD
Chair, Department of Biomedical Data Science
Stanford University
MARA ASPINALL
CEO
Health Catalysts Group
GILLIAN HOOKER, PhD, ScM, LCGC
VP, Clinical Development
Concert Genetics
SUZANNE BELINSON, PhD, MPH
Executive Director, Clinical Markets
Blue Cross Blue Shield Association
ROBERT NUSSBAUM, MD
Chief Medical Officer
Invitae
DEE ANNA SMITH
CEO
Sarah Cannon
NICK TAZIK
Director of Marketing
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
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
Division of Medical Genetics
University of Washington
SEAN HOFHERR, PhD
Chief Scientific Officer
GeneDx, Inc.
KATIE JOHANSEN TABER, PhD
Director, Medical Communications
Counsyl
MARYANN JONES
Director, Corporate Health Care Policy
CareFirst BlueCross BlueShield
STEVEN KEILES, MS, LCGC
Senior Director
Genetic Counselor Organization, Advanced Diagnostics, Quest Diagnostics
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
Counsyl
SUE TYLER
Principal
Sue Tyler, LLC
BAS VAN DER BAAN
Chief Clinical Officer
Agendia
MARK HARRIS, PhD
Founder & Chief Innovation Officer
Concert Genetics