ENABLING PRECISION MEDICINE
The Role of Genetics in
Clinical Drug Development
PROCEEDINGS OF A WORKSHOP
Morgan L. Boname, Amanda Wagner Gee, Theresa Wizemann,
Siobhan Addie, and Sarah H. Beachy, Rapporteurs
Forum on Drug Discovery, Development, and Translation
Roundtable on Genomics and Precision Health
Board on Health Sciences Policy
Health and Medicine Division
THE NATIONAL ACADEMIES PRESS
Washington, DC
www.nap.edu
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This project was supported by contracts between the National Academy of Sciences and 23andMe; AbbVie Inc.; American Academy of Nursing; American College of Medical Genetics and Genomics; American Diabetes Association; American Heart Association; American Medical Association; American Society of Human Genetics; American Society of Microbiology; Amgen Inc. (Contract No. GHCCOPS-CSARF-96212); Association for Molecular Pathology; Association of American Medical Colleges; AstraZeneca; Biogen; Blue Cross and Blue Shield Association; Burroughs Wellcome Fund (Contract No. 1017664); College of American Pathologists; Color Genomics; Critical Path Institute; Eisai Inc.; Eli Lilly and Company; FasterCures; Friends of Cancer Research; GeneDx; GlaxoSmithKline (Contract No. 016084); Health Resources and Services Administration (HHSH250201500001I, Order No. HHSH250); Illumina, Inc.; Janssen Research & Development, LLC; Johnson & Johnson (unnumbered contract); Kaiser Permanente; Marc Grodman; Merck & Co., Inc. (Contract No. CMO-160219-001271 and Contract No. CMO170215-0001573); National Institutes of Health (Contract No. HHSN263201200074I; Task Order No. HHSN26300093 and Task Order No. HHSN26300066): National Cancer Institute, National Center for Advancing Translational Sciences, National Human Genome Research Institute, National Institute of Allergy and Infectious Diseases, National Institute of Mental Health, National Institute of Neurological Disorders and Stroke, National Institute of Nursing Research, National Institute on Aging, and the Office of Disease Prevention; National Society of Genetic Counselors; New England Journal of Medicine; Northrop Grumman Health IT; Pfizer Inc.; PhRMA; Sanofi (Contract No. 33215505); Takeda Pharmaceuticals (Contract No. 53108); U.S. Air Force; U.S. Department of Veterans Affairs (Contract No. VA240-14-C-0037); and U.S. Food and Drug Administration (Contract No. 1R13FD005496-01). Any opinions, findings, conclusions, or recommendations expressed in this publication do not necessarily reflect the views of any organization or agency that provided support for the project.
International Standard Book Number-13: 978-0-309-46263-1
International Standard Book Number-10: 0-309-46263-0
Digital Object Identifier: https://doi.org/10.17226/24829
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Suggested citation: National Academies of Sciences, Engineering, and Medicine. 2017. Enabling precision medicine: The role of genetics in clinical drug development: Proceedings of a workshop. Washington, DC: The National Academies Press. doi: https://doi.org/10.17226/24829.
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PLANNING COMMITTEE ON ENABLING PRECISION MEDICINE: THE ROLE OF GENETICS IN CLINICAL DRUG DEVELOPMENT1,2
ESTEBAN BURCHARD (Co-Chair), Professor, Bioengineering and Therapeutic Sciences and Medicine, University of California, San Francisco
LAURA K. NISENBAUM (Co-Chair), Advisor, Chorus Clinical Development, Eli Lilly and Company
REBECCA BLANCHARD, Head of Clinical Pharmacogenomics and Operations, Merck & Co., Inc.
P. J. BROOKS, Program Director, National Center for Advancing Translational Sciences, National Institutes of Health
JOHN CARULLI, Director, Computational Biology and Genomics, Biogen
ELIZABETH COHN, Associate Director, Community Engagement Core Resource, Irving Institute for Clinical and Translational Science, Columbia University
DAVID DEMETS, Max Halperin Professor of Biostatistics, University of Wisconsin–Madison
JOSHUA GALANTER, Senior Safety Scientist, Genentech
LYNN HUDSON, Chief Science Officer, Critical Path Institute
JOHN ORLOFF, Executive Vice President, Head of R&D, Novelion
BRAY PATRICK-LAKE, Director of Stakeholder Engagement, Duke University Clinical and Translational Science Institute
RICHARD SCHILSKY, Senior Vice President and Chief Medical Officer, American Society of Clinical Oncology
JANET WOODCOCK, Director, Center for Drug Evaluation and Research, U.S. Food and Drug Administration
Forum on Drug Discovery, Development, and Translation Staff
ANNE CLAIBORNE, Forum Director (until August 2017)
CAROLYN SHORE, Forum Director (as of August 2017)
REBECCA A. ENGLISH, Program Officer
AMANDA WAGNER GEE, Program Officer
MORGAN L. BONAME, Associate Program Officer
___________________
1 The planning committee’s role was limited to planning the workshop, and the Proceedings of a Workshop was prepared by the workshop rapporteurs as a factual summary of what occurred at the workshop. Statements, recommendations, and opinions expressed are those of individual presenters and participants, and have not been endorsed or verified by the National Academies of Sciences, Engineering, and Medicine, and they should not be construed as reflecting any group consensus.
2 Affiliation listed at the time of the workshop.
MICHAEL BERRIOS, Senior Program Assistant (until July 2017)
OLIVIA YOST, Senior Program Assistant (until March 2017)
Roundtable on Genomics and Precision Health Staff
SARAH H. BEACHY, Roundtable Director
SIOBHAN ADDIE, Associate Program Officer
MEREDITH HACKMANN, Research Associate
REBECCA RAY, Senior Program Assistant (as of August 2017)
Board on Health Sciences Policy Staff
ANDREW M. POPE, Director
HILARY BRAGG, Program Coordinator (until August 2017)
FORUM ON DRUG DISCOVERY, DEVELOPMENT, AND TRANSLATION1,2
RUSS ALTMAN (Co-Chair), Stanford University, CA
STEVEN GALSON (Co-Chair), Amgen Inc., Thousand Oaks, CA
MARGARET ANDERSON, FasterCures, Washington, DC (until June 2017)
HUGH AUCHINCLOSS, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD
CHRISTOPHER AUSTIN, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD
LINDA BRADY, National Institute of Mental Health, National Institutes of Health, Bethesda, MD
ROBERT CALIFF, Duke University, Durham, NC, and Verily Life Sciences, San Francisco, CA
GAIL CASSELL, Harvard Medical School Department of Social and Global Medicine (Visiting), Carmel, IN
ANDREW DAHLEM, Eli Lilly and Company, Indianapolis, IN
TAMARA DARSOW, American Diabetes Association, Alexandria, VA
JAMES DOROSHOW, National Cancer Institute, National Institutes of Health, Bethesda, MD
JEFFREY DRAZEN, New England Journal of Medicine, Boston, MA
JULIE GERBERDING, Merck & Co., Inc., North Wales, PA
JODIE GILLON, Achillion Pharmaceuticals, New Haven, CT
LYNN HUDSON, Critical Path Institute, Tucson, AZ
S. CLAIBORNE JOHNSTON, Dell Medical School at The University of Texas at Austin
GREGORY KEENAN, AstraZeneca, Gaithersburg, MD
RUSTY KELLEY, Burroughs Wellcome Fund, Research Triangle Park, NC
KATE KNOBIL, GlaxoSmithKline, Collegeville, PA
FREDA LEWIS-HALL, Pfizer Inc., New York, NY
ROSS MCKINNEY, Association of American Medical Colleges, Washington, DC
BERNARD MUNOS, InnoThink, Indianapolis, IN
JOHN ORLOFF, Executive Vice President, Head of R&D, Novelion, Vancouver, British Columbia, Canada
MICHAEL ROSENBLATT, Flagship Pioneering, Cambridge, MA
MICHAEL SEVERINO, AbbVie Inc., North Chicago, IL
___________________
1 The National Academies of Sciences, Engineering, and Medicine’s forums and roundtables do not issue, review, or approve individual documents. The responsibility for the published Proceedings of a Workshop rests with the workshop rapporteurs and the institution.
2 Affiliation listed at the time of the workshop.
RACHEL SHERMAN, Office of the Commissioner, U.S. Food and Drug Administration, Silver Spring, MD
ELLEN SIGAL, Friends of Cancer Research, Washington, DC
LANA SKIRBOLL, Sanofi, Washington, DC
BRIAN STROM, Rutgers, State University of New Jersey, Newark
AMIR TAMIZ, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD
JOHN WAGNER, Takeda Pharmaceuticals, Cambridge, MA
JOANNE WALDSTREICHER, Johnson & Johnson, New Brunswick, NJ
CARRIE WOLINETZ, Office of the Director, National Institutes of Health, Bethesda, MD
JANET WOODCOCK, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, MD
Forum on Drug Discovery, Development, and Translation Staff
ANNE B. CLAIBORNE, Director (until August 2017)
CAROLYN SHORE, Director (as of August 2017)
REBECCA A. ENGLISH, Program Officer
AMANDA WAGNER GEE, Program Officer
MORGAN L. BONAME, Associate Program Officer
OLIVIA YOST, Senior Program Assistant (until March 2017)
MICHAEL BERRIOS, Senior Program Assistant (until July 2017)
ROUNDTABLE ON GENOMICS AND PRECISION HEALTH1,2
GEOFFREY GINSBURG (Co-Chair), Director, Center for Applied Genomics and Precision Medicine, Duke University, Durham, NC
SHARON TERRY (Co-Chair), President and Chief Executive Officer, Genetic Alliance, Washington, DC
NAOMI ARONSON, Executive Director, Technology Evaluation Center, Blue Cross and Blue Shield Association, Chicago, IL
NAZNEEN AZIZ, Executive Director, Kaiser Permanente Research Bank, Oakland, CA
REBECCA BLANCHARD, Executive Director, Genetics and Pharmacogenomics, Head of Clinical Pharmacogenomics, Merck & Co., Inc., West Point, PA
LT. COL. RUTH BRENNER, Chief, AFMS Personalized Medicine, Air Force Medical Support Agency
JOHN CARULLI, Director, Translational Genomics, Biogen, Cambridge, MA
ANN CASHION, Scientific Director, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD
ROBERT B. DARNELL, President and Scientific Director, New York Genome Center; Investigator, Howard Hughes Medical Institute, Heilbrunn Cancer Professor and Senior Physician, Head, Laboratory of Molecular Neuro-Oncology, The Rockefeller University, New York, NY
JOSEPH DONAHUE, Senior Vice President, Commerical Collaborations, GeneDx, Elmwood, NJ
MICHAEL J. DOUGHERTY, Director of Education, American Society of Human Genetics, Bethesda, MD
W. GREGORY FEERO, Representative of the Journal of the American Medical Association; Faculty, Maine Dartmouth Family Medicine Residency Program, Fairfield
ANDREW N. FREEDMAN, Branch Chief, Clinical and Translational Epidemiology Branch, Epidemiology and Genetics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health, Rockville, MD
MARC GRODMAN, Assistant Professor of Clinical Medicine, Columbia University, New York, NY
JILL M. HAGENKORD, Chief Medical Officer, Color Genomics, Mountain View, CA (from April 2017)
___________________
1 The National Academies of Sciences, Engineering, and Medicine’s forums and roundtables do not issue, review, or approve individual documents. The responsibility for the published Proceedings of a Workshop rests with the workshop rapporteurs and the institution.
2 Affiliation listed at the time of the workshop.
RICHARD J. HODES, Director, National Institute on Aging, National Institutes of Health, Bethesda, MD
MUIN KHOURY, Director, National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA
DAVID LANFEAR, Representative of the American Heart Association; Head, Advanced Heart Failure and Cardiac Transplant Section, Henry Ford Hospital, Detroit, MI
THOMAS LEHNER, Director, Office of Genomics Research Coordination, National Institute of Mental Health, National Institutes of Health, Bethesda, MD
DEBRA LEONARD, Representative of the College of American Pathologists; Professor and Chair of Pathology at the University of Vermont College of Medicine; Physician Leader of Pathology and Laboratory Medicine at Fletcher Allen Health Care, University of Vermont College of Medicine, Burlington
DAVID LITWACK, Staff Fellow, U.S. Food and Drug Administration, Silver Spring, MD (from March 2017)
ELIZABETH MANSFIELD, Deputy Office Director for Personalized Medicine, Office of In Vitro Diagnostics and Radiological Health, Center for Devices and Radiological Health, U.S. Food and Drug Administration, Silver Spring, MD (until March 2017)
ROBERT MCCORMACK, Head, Biomarker Translation, Disease Interceptor Accelerator, Janssen Research & Development, LLC, Raritan, NJ
JENNIFER MOSER, Health Science Specialist, Genomic Medicine Program, Office of Research and Development, U.S. Department of Veterans Affairs, Washington, DC
LAURA K. NISENBAUM, Advisor, Chorus Clinical Development, Eli Lilly and Company, Indianapolis, IN
VICTORIA M. PRATT, Representative of the Association for Molecular Pathology; Associate Professor of Clinical Medical and Molecular Genetics and Director, Pharmacogenomics Diagnostic Laboratory, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis
MARY V. RELLING, Member and Chair, Department of Pharmaceutical Sciences, St. Jude Children’s Research Hospital, Memphis, TN
LAURA LYMAN RODRIGUEZ, Director, Division of Policy, Communications, and Education, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
NADEEM SARWAR, President, Andover Product Creation Innovation System, Eisai Inc., Cambridge, MA
SHERI SCHULLY, Senior Advisor for Disease Prevention, Office of the Director, National Institutes of Health, Rockville, MD
JOAN A. SCOTT, Chief, Genetic Services Branch, Division of Services for Children with Special Health Needs, Maternal and Child Health Bureau, Rockville, MD
SAM SHEKAR, Chief Medical Officer, Health Information Technology Program, Northrop Grumman Information Systems, McLean, VA
KATHERINE JOHANSEN TABER, Director, Personalized Medicine, American Medical Association, Chicago, IL
RYAN TAFT, Senior Director, Population and Medical Genomics, Illumina, Inc., San Diego, CA (from April 2017)
JOYCE TUNG, Vice President, Research, 23andMe, Mountain View, CA (from April 2017)
DAVID VEENSTRA, Professor, Pharmaceutical Outcomes Research and Policy Program, Department of Pharmacy, University of Washington, Seattle
MICHAEL S. WATSON, Executive Director, American College of Medical Genetics and Genomics, Bethesda, MD
CATHERINE A. WICKLUND, Past President, National Society of Genetic Counselors; Director, Graduate Program in Genetic Counseling; Associate Professor, Department of Obstetrics and Gynecology, Northwestern University, Chicago, IL
ROBERT WILDIN, Chief, Genomic Healthcare Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD (until June 2017)
JANET K. WILLIAMS, Representative of the American Academy of Nursing; Professor of Nursing, University of Iowa, College of Nursing, Chair of Behavioral and Social Science, Iowa City
Roundtable on Genomics and Precision Health Staff
SARAH H. BEACHY, Director
SIOBHAN ADDIE, Associate Program Officer
MEREDITH HACKMANN, Research Associate
REBECCA RAY, Senior Program Assistant (as of August 2017)
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Reviewers
This Proceedings of a Workshop was reviewed in draft form by individuals chosen for their diverse perspectives and technical expertise. The purpose of this independent review is to provide candid and critical comments that will assist the National Academies of Sciences, Engineering, and Medicine in making each published proceedings as sound as possible and to ensure that it meets the institutional standards for quality, objectivity, evidence, and responsiveness to the charge. The review comments and draft manuscript remain confidential to protect the integrity of the process.
We thank the following individuals for their review of this proceedings:
Christine Cole Johnson, Henry Ford Health System Research
Christine Colvis, National Center for Advancing Translational Sciences, National Institutes of Health
Matthew Nelson, GlaxoSmithKline
Jane Perlmutter, Gemini Group
Although the reviewers listed above provided many constructive comments and suggestions, they were not asked to endorse the content of the proceedings nor did they see the final draft before its release. The review of this proceedings was overseen by Leslie Z. Benet, University of California, San Francisco. He was responsible for making certain that an independent examination of this proceedings was carried out in accordance with standards of the National Academies and that all review comments were carefully considered. Responsibility for the final content rests entirely with the rapporteurs and the National Academies.
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Acknowledgments
The support of the sponsors of the Forum on Drug Discovery, Development, and Translation was crucial to the planning and conduct of the workshop Enabling Precision Medicine: The Role of Genetics in Clinical Drug Development and for the development of the workshop proceedings. Federal sponsors are the National Institutes of Health’s (NIH’s) National Cancer Institute, National Center for Advancing Translational Sciences, National Institute of Allergy and Infectious Diseases, National Institute of Mental Health, National Institute of Neurological Disorders and Stroke, and Office of the Director and the U.S. Food and Drug Administration. Nonfederal sponsorship was provided by AbbVie Inc.; American Diabetes Association; American Society of Microbiology; Amgen Inc.; Association of American Medical Colleges; AstraZeneca; Burroughs Wellcome Fund; Critical Path Institute; Eli Lilly and Company; FasterCures; Friends of Cancer Research; GlaxoSmithKline; Johnson & Johnson; Merck & Co., Inc.; New England Journal of Medicine; Pfizer Inc.; Sanofi; and Takeda Pharmaceuticals.
The support of the Roundtable on Genomics and Precision Health was also very important for the workshop. Federal sponsors are the Health Resources and Services Administration; NIH’s National Cancer Institute, National Human Genome Research Institute, National Institute of Mental Health, National Institute of Nursing Research, National Institute on Aging, and the Office of Disease Prevention; the U.S. Air Force; and the U.S. Department of Veterans Affairs. Nonfederal sponsorship was provided by 23andMe; American Academy of Nursing; American College of Medical Genetics and Genomics; American Heart Association; American
Medical Association; American Society of Human Genetics; Association for Molecular Pathology; Biogen; Blue Cross and Blue Shield Association; College of American Pathologists; Color Genomics; Eisai Inc.; Eli Lilly and Company; GeneDx; Illumina, Inc.; Janssen Research & Development, LLC; Kaiser Permanente; Marc Grodman; Merck & Co., Inc.; National Society of Genetic Counselors; Northrop Grumman Health IT; and PhRMA.
The Forum on Drug Discovery, Development, and Translation and the Roundtable on Genomics and Precision Health wish to express gratitude to the members of the planning committee for their work in developing an excellent workshop agenda and to the expert speakers who explored how progress could be made by using genetics research to accelerate and improve drug development. The project directors would like to thank project staff who worked diligently to develop both the workshop and the resulting proceedings.
Contents
Overview of Cross-Cutting Topics Highlighted During Presentations and Discussions
Organization of the Workshop and Proceedings
2 OVERARCHING CONSIDERATIONS FOR IMPLEMENTING SUCCESSFUL GENETICS-ENABLED DRUG DEVELOPMENT
Perspective of a Patient and Patient Advocate
3 CASE STUDIES IN PRECISION DRUG DEVELOPMENT
Lung-MAP: A Biomarker-Driven Umbrella Trial for Squamous Cell Lung Cancer
Clinical Drug Development for Spinal Muscular Atrophy
Using Genetics in Clinical Trials for Mitochondrial Diseases
4 INTEGRATING GENETICS INTO THE DRUG DEVELOPMENT PATHWAY FOR COMPLEX DISEASES
Clopidogrel Pharmacogenetics in Coronary Artery Disease: The TAILOR-PCI Trial
5 FINDING INNOVATIVE WAYS TO INTEGRATE GENETIC RESEARCH INTO THE DRUG DEVELOPMENT PROCESS
New Targets, Modalities, and Challenges: The Inconvenient Path of Human Genetics in Drug Discovery
Grouping Rare Disease Patients by Shared Molecular Etiology to Accelerate Clinical Trials
Return on Investment from Patient Input in Drug Development: Lessons from CTTI and Pfizer
Patient-Centered Approaches to Genetics-Enabled Drug Development
Including Diverse Populations in Genetics-Enabled Research
Implementing Innovative Methods for Genetics-Enabled Research
Collaboration to Advance Precision Medicine
B Statement of Task and Workshop Agenda
Boxes, Figures, and Table
BOXES
2-1 Clinical Trial Participant “Bill of Rights”
3-1 Example of the Rapid Execution of the “Just-in-Time” Trial Process
5-1 Drivers and Risk Factors Impacting Net Present Value
FIGURES
1-1 Enabling precision medicine with human genetics
2-2 Molecular diversity of genetic diseases
2-3 Possible outcomes for the use of biomarkers in targeted development
3-1 Design of Lung-MAP clinical trial
3-2 Strategies to enhance accrual for Lung-MAP
4-2 Routine genetic/genomic studies in clinical trials at Merck
4-3 Design of the TAILOR-PCI trial
5-1 Using genetics to identify new targets for the screening of drug candidates
5-2 Modeling expected net present value of a drug development program
5-3 Estimated impact of patient engagement activities on NPV and ENPV
TABLE
Acronyms and Abbreviations
| ACC | American College of Cardiology |
| ADME | absorption, distribution, metabolism, and excretion |
| AHA | American Heart Association |
| ALK | anaplastic lymphoma kinase |
| API | Alzheimer’s Prevention Initiative |
| APOE | apolipoprotein E gene |
| CAD | coronary artery disease |
| CAP | College of American Pathologists |
| CLIA | Clinical Laboratory Improvement Amendments |
| CNS | central nervous system |
| CSDD | Center for the Study of Drug Development, Tufts University |
| CTSA | Clinical and Translational Science Award |
| CTTI | Clinical Trials Transformation Initiative |
| EGFR | epidermal growth factor receptor |
| EHR | electronic health record |
| EMA | European Medicines Agency |
| ENPV | expected net present value |
| FDA | U.S. Food and Drug Administration |
| GSK | GlaxoSmithKline |
| GWAS | genome-wide association study |
| HLA | human leukocyte antigen |
| IOM | Institute of Medicine |
| IRB | institutional review board |
| IVD | in vitro diagnostic |
| Lung-MAP | Lung Master Protocol |
| NCATS | National Center for Advancing Translational Sciences |
| NCI | National Cancer Institute |
| NDA | new drug application |
| NGS | next-generation sequencing |
| NIH | National Institutes of Health |
| NPV | net present value |
| NSCLC | non-small cell lung cancer |
| PCI | percutaneous coronary intervention |
| PGCT | Patient Groups and Clinical Trials Project |
| PMA | premarket approval |
| PMI | Precision Medicine Initiative |
| PWS | Prader-Willi syndrome |
| ROS1 | c-ros oncogene 1 |
| SAPPHIRE | Study for Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity |
| SMA | spinal muscular atrophy |
| SME | shared molecular etiology |
| SNP | single nucleotide polymorphism |
| STARTRK | Studies of Tumor Alterations Responsive to Targeting Receptor Kinases Trial |
| TAILOR-PCI | Tailored Antiplatelet Therapy Following Percutaneous Coronary Intervention |
| TRK | tyrosine receptor kinase |
| UMDF | United Mitochondrial Disease Foundation |
