The Potential Contribution
of Cancer Genomics
Information to Community
Investigations of Unusual
Patterns of Cancer
_____
Marc Meisnere, Anne Johnson, and
Sharyl Nass, Rapporteurs
National Cancer Policy Forum
Board on Health Care Services
Roundtable on Genomics and Precision
Health
Board on Health Sciences Policy
Health and Medicine Division
Proceedings of a Workshop
THE NATIONAL ACADEMIES PRESS 500 Fifth Street, NW Washington, DC 20001
This activity was supported by Contract No.75D30121D11240 (Task Order No. 5D30122F000014) between the National Academies of Sciences, Engineering, and Medicine and the Centers for Disease Control and Prevention.
International Standard Book Number-13: 978-0-309-70808-1
International Standard Book Number-10: 0-309-70808-7
Digital Object Identifier: https://doi.org/10.17226/27201
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Suggested citation: National Academies of Sciences, Engineering, and Medicine. 2023. The potential contribution of cancer genomics information to community investigations of unusual patterns of cancer: Proceedings of a workshop. Washington, DC: The National Academies Press. https://doi.org/10.17226/27201.
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WORKSHOP PLANNING COMMITTEE ON THE POTENTIAL CONTRIBUTION OF CANCER GENOMICS INFORMATION TO COMMUNITY INVESTIGATIONS OF UNUSUAL PATTERNS OF CANCER1
ROBERTA NESS (Chair), University of Texas School of Public Health (Retired)
WEI-TING HWANG, University of Pennsylvania Perelman School of Medicine
CARMEN J. MARSIT, Emory University
KIM E. NICHOLS, St. Jude Children’s Research Hospital
SHARON E. PLON, Texas Children’s Hospital
MARK P. PURDUE, National Institutes of Health
E. ALEJANDRO SWEET-CORDERO, University of California, San Francisco
Project Staff
LORI BENJAMIN BRENIG, Research Associate
CHIDINMA CHUKWURAH, Senior Program Assistant
JENNIFER LALITHA FLAUBERT, Program Officer
MARC MEISNERE, Senior Program Officer
JULIE WILTSHIRE, Senior Finance Business Partner
SARAH BEACHY, Senior Program Officer and Director, Roundtable on Genomics and Precision Health
ERIN BALOGH, Co-Director, National Cancer Policy Forum
SHARYL NASS, Co-Director, National Cancer Policy Forum; Senior Director, Board on Health Care Services
___________________
1 The National Academies of Sciences, Engineering, and Medicine’s planning committees are solely responsible for organizing the workshop, identifying topics, and choosing speakers. The responsibility for the published Proceedings of a Workshop rests with the workshop rapporteurs and the institution.
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NATIONAL CANCER POLICY FORUM1
ROBERT A. WINN (Chair), Virginia Commonwealth University
PETER C. ADAMSON, Sanofi
JUSTIN E. BEKELMAN, University of Pennsylvania
SMITA BHATIA, The University of Alabama at Birmingham
CHRIS BOSHOFF, Pfizer Inc.
OTIS W. BRAWLEY, Johns Hopkins University
ROBERT W. CARLSON, National Comprehensive Cancer Network
CHRISTINA CHAPMAN, Baylor College of Medicine; Michael E. DeBakey VA Medical Center
GWEN DARIEN, National Patient Advocate Foundation
JAMES H. DOROSHOW, National Cancer Institute
SCOT W. EBBINGHAUS, Merck Research Laboratories
S. GAIL ECKHARDT, The University of Texas at Austin
CHRISTOPHER R. FRIESE, University of Michigan
STANTON L. GERSON, Case Western Reserve University
SCARLETT LIN GOMEZ, University of California, San Francisco
JULIE R. GRALOW, American Society of Clinical Oncology
ROY S. HERBST, Yale University
HEDVIG HRICAK, Memorial Sloan Kettering Cancer Center
CHANITA HUGHES-HALBERT, University of Southern California
ROY A. JENSEN, University of Kansas; Association of American Cancer Institutes
RANDY A. JONES, University of Virginia
BETH Y. KARLAN, University of California, Los Angeles
SAMIR N. KHLEIF, Georgetown University; Society for Immunotherapy of Cancer
SCOTT M. LIPPMAN, University of California, San Diego
ELENA MARTINEZ, University of California, San Diego
LARISSA NEKHLYUDOV, Brigham and Women’s Hospital; Dana-Farber Cancer Institute; Harvard Medical School
RANDALL A. OYER, University of Pennsylvania; Penn Medicine Lancaster General Health; Association of Community Cancer Centers
___________________
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.
LISA C. RICHARDSON, Centers for Disease Control and Prevention
CLEO A. RYALS, Flatiron Health
RICHARD L. SCHILSKY, ASCO TAPUR Study; University of Chicago
JULIE SCHNEIDER, Oncology Center of Excellence, Food and Drug Administration
SUSAN M. SCHNEIDER, Duke University
LAWRENCE N. SHULMAN, University of Pennsylvania
HEIDI SMITH, Novartis Pharmaceuticals
ROBIN YABROFF, American Cancer Society
National Cancer Policy Forum Staff
TORRIE BROWN, Program Coordinator
CHIDINMA CHUKWURAH, Senior Program Assistant
JULIE WILTSHIRE, Senior Finance Business Partner
JENNIFER ZHU, Associate Program Officer
ERIN BALOGH, Co-Director, National Cancer Policy Forum
SHARYL NASS, Co-Director, National Cancer Policy Forum; Senior Director, Board on Health Care Services
ROUNDTABLE ON GENOMICS AND PRECISION HEALTH1
GREGORY FEERO (Co-Chair), Professor, Department of Community and Family Medicine, Geisel School of Medicine, Maine Dartmouth Family Medicine Residency Program; representing JAMA
MICHELLE PENNY (Co-Chair), Executive Vice President, Research and Development, Embark Inc.
NAOMI ARONSON, Executive Director, Clinical Effectiveness and Policy, Blue Cross Blue Shield Association
ARIS BARAS, Senior Vice President, Regeneron Pharmaceuticals; General Manager, Regeneron Genetics Center
VENCE BONHAM JR., Acting Deputy Director, National Human Genome Research Institute
BERNICE COLEMAN, Director, Nursing Research Department, Performance Improvement Department, Nurse Practitioner, Heart Transplantation and Mechanical Circulatory Support Programs
ROBERT B. DARNELL, Heilbrunn Professor and Senior Physician Head, Laboratory of Molecular Neuro-Oncology, The Rockefeller University; Investigator, Howard Hughes Medical Institute; Founding Director and CEO Emeritus, New York Genome Center
GEOFFREY GINSBURG, Chief Medical and Science Officer, All of Us Research Program, National Institutes of Health; representing Global Genomic Medicine Consortium
JENNIFER GOLDSACK, Executive Director, Digital Medicine Society
JILL HAGENKORD, Chief Medical Officer, Optum Genomics
CASSIE HAJEK, Medical Director, Helix
RICHARD J. HODES, Director, National Institutes on Aging, National Institutes of Health
GEOFF HOLLETT, Senior Science Policy Analyst, American Medical Association
MIRA IRONS, President and CEO, College of Physicians of Philadelphia
PRADUMAN JAIN, Chief Executive Officer, Vibrent Health
___________________
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.
SEKAR KATHIRESAN, Director, Center for Genomic Medicine, Massachusetts General Hospital; Chief Executive Officer and Founder, Verve Therapeutics
ALISHA KEEHN, Branch Chief, Genetic Services Branch, Division of Services for Children with Special Health Needs, Maternal and Child Health Bureau, Health Resources and Services Administration (from January 2022)
MUIN KHOURY, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention
CHARLES LEE, Scientific Director and Professor, The Jackson Laboratory for Genomic Medicine
CHRISTA LESE MARTIN, Chief Scientific Officer, Director, Autism and Developmental Medicine Institute, Geisinger
MONA MILLER, Chief Executive Officer, American Society of Human Genetics
ADELE MITCHELL, Head of Clinical Genetics, Biogen
JENNIFER MOSER, Genomic Medicine Program, Office of Research and Development, U.S. Department of Veterans Affairs
MAXIMILIAN MUENKE, Chief Executive Officer, American College of Medical Genetics and Genomics
KENNETH OFFIT, Chief of Clinical Genetics Service, Robert and Kate Neihaus Chair in Inherited Cancer Genomics, and Vice Chair of Academic Affairs, Department of Medicine, Memorial Sloan Kettering Cancer Center; representing American Society of Clinical Oncology
KATHRYN PHILLIPS, Professor of Health and Economics and Health Services Research and Founding Director, Center for Translational and Policy Research on Precision Medicine, University of California, San Francisco
VICTORIA PRATT, Vice President, Molecular Diagnostics Quality Assessments, Optum Genomics; representing Association for Molecular Pathology
MURRAY ROSS, Vice President, Kaiser Foundation Health Plan, Inc.
WENDY RUBINSTEIN, Director, Personalized Medicine, Food and Drug Administration
NADEEM SARWAR, President, Eisai AiM Institute
SHERI SCHULLY, Deputy Chief Medical and Scientific Officer, All of Us Research Program, National Institutes of Health
JOAN SCOTT, Director, Division of Services for Children with Special Health Needs, Maternal and Child Health Bureau, Health Resources and Services Administration (until January 2022)
GEETHA SENTHIL, Program Officer, National Institute of Mental Health, National Institutes of Health
NONNIEKAYE SHELBURNE, Program Director, Clinical and Translational Epidemiology Branch, National Cancer Institute
NIKOLETTA SIDIROPOULOS, Medical Director of Genomic Medicine, Associate Professor of Pathology and Laboratory Medicine, University of Vermont Health Network, Larner College of Medicine at the University of Vermont
KATHERINE JOHANSEN TABER, Vice President, Clinical Product Research and Partnerships, Myriad Genetics
RYAN TAFT, Vice President, Scientific Research, Illumina
JACQUELYN TAYLOR, Professor of Nursing, Director, Center for Research on People of Color, Columbia University School of Nursing
SHARON TERRY, President and CEO, Genetic Alliance
JOYCE TUNG, Vice President, Research, 23andMe
JAMESON D. VOSS, Major, USAF, MC, FS, Chief, AFMS Precision Medicine, Air Force Medical Support Agency
KAREN WECK, Professor of Pathology and Laboratory Medicine, Professor of Clinical Genetics, University of North Carolina; representing the College of American Pathologists
CATHERINE A. WICKLUND, Director, Graduate Program in Genetic Counseling; Past President, National Society of Genetic Counselors; Associate Professor, Department of Obstetrics and Gynecology, Feinberg School of Medicine, Center for Genetic Medicine
HUNTINGTON F. WILLARD, Chief Scientific Officer, Genome Medical, Inc.
SARAH WORDSWORTH, Professor and University Lecturer, Health Economics Research Centre, Nuffield Department of Population Health, University of Oxford
SHANNON ZENK, Director, National Institute of Nursing Research
Roundtable on Genomics and Precision Health Staff
SARAH BEACHY, Senior Program Officer and Roundtable Director
KATHRYN ASALONE, Associate Program Officer
MEREDITH HACKMANN, Associate Program Officer
APARNA CHERAN, Senior Program Assistant
LYDIA TEFERRA, Research Assistant
Board on Health Sciences Policy Staff
CLARE STROUD, Senior Board Director
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 report:
LINDA BIRNBAUM, Duke University
JERALD A. FAGLIANO, Drexel University
JINGHUI ZHANG, St. Jude Children’s Research Hospital
Although the reviewers listed above provided many constructive comments and suggestions, they were not asked to endorse the conclusions or recommendations of this report nor did they see the final draft before its release. The review of this proceedings was overseen by DANIEL R. MASYS, University of Washington. He was responsible for making certain that an independent examination of this report was carried out in accordance with the 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 National Academies of Sciences, Engineering, and Medicine are grateful for the support of the Division on Environmental Health Science and Practice at the Centers for Disease Control and Prevention, which sponsored this workshop. Support from the many annual sponsors of the National Academies of Sciences, Engineering, and Medicine’s National Cancer Policy Forum is also crucial to the work of the forum. Federal sponsors include the Centers for Disease Control and Prevention and the National Cancer Institute/National Institutes of Health. Nonfederal sponsors include the American Association for Cancer Research; American Cancer Society; American College of Radiology; American Society of Clinical Oncology; Association of American Cancer Institutes; Association of Community Cancer Centers; Bristol Myers Squibb; Cancer Support Community; Flatiron Health; Merck & Co., Inc.; National Comprehensive Cancer Network; National Patient Advocate Foundation; Novartis Oncology; Oncology Nursing Society; Partners in Health; Pfizer Inc; Sanofi; and Society for Immunotherapy of Cancer.
Federal sponsors of the Roundtable on Genomics and Precision Health are the U.S. Air Force Medical Service, the Health Resources and Services Administration, and the following National Institutes of Health: the National Cancer Institute, the National Human Genome Research Institute, the National Institute on Aging, the National Institute of Mental Health, and the National Institute of Nursing Research, as well as the National Institutes of Health’s All of Us Research Program. Nonfederal sponsorship was provided by 23andMe; American Academy of Nursing; American College of Medical Genetics and Genomics; American Medical Association; Association for Molecular Pathology; Biogen;
Blue Cross Blue Shield Association; College of American Pathologists; Color Genomics; Eisai, Inc.; Geisinger; Genome Medical, Inc.; Helix; Illumina, Inc.; The Jackson Laboratory; Kaiser Foundation Health Plan, Inc.; Myriad Genetics; National Society of Genetic Counselors; Regeneron Pharmaceuticals; University of Vermont Health Network Medical Group; University of California, San Francisco; and Vibrent Health.
The forum and the roundtable wish to express their gratitude to the expert speakers whose presentations and discussions helped inform efforts to understand the potential contribution of cancer genomics information to community investigations of unusual patterns of cancer. The forum and roundtable also wish to thank the members of the planning committee for their work in developing an excellent workshop agenda.
Contents
OVERVIEW OF PEDIATRIC CANCERS AND ENVIRONMENTAL EXPOSURES
DNA Methylation Biomarkers of Environmental Exposures
Genomic Methods to Understand the Genetic Origins of Pediatric Cancers
Using Cancer Mutational Signatures to Explore the Etiology of Pediatric Cancer
Advancing the Identification of Pediatric Mutational Signatures
STATISTICAL AND EPIDEMIOLOGICAL APPROACHES TO IDENTIFY GENOMIC BIOMARKERS IN CANCER CLUSTERS
The Role of Central Cancer Registries in the Investigation of Unusual Patterns of Cancer
Epidemiological Approaches for Assessing Reports of Cancer Clusters and Environmental Exposures
Advancing the Use of Statistical and Epidemiological Tools for Cancer Cluster Assessment
ENVIRONMENTAL EXPOSURES AND PEDIATRIC CANCER
Current Epidemiological Evidence on Environmental Exposures and Pediatric Cancer
Using Molecular Epidemiology to Investigate Environmental Exposures and Pediatric Cancer
The Exposome and Pediatric Cancer
Increasing Evidence-Based Linkages Between Environmental Exposures and Pediatric Cancers
POTENTIAL STRATEGIES FOR COMMUNICATION ABOUT ENVIRONMENTAL EXPOSURES AND CANCER RISK
Enhancing Communication and Engagement with Communities About Cancer Clusters
Communicating What is Known in Community Cancer Investigations
Promoting Culturally Sensitive Risk Communication with Communities
Potential Opportunities to Enhance Community Collaboration in Research
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Acronyms and Abbreviations
AI | artificial intelligence |
ALL | acute lymphoblastic leukemia |
ATSDR | Agency for Toxic Substances and Disease Registry |
CDC | Centers for Disease Control and Prevention |
DERBI | Digital Exposure Report-Back Interface |
ML | machine learning |
NAACCR | North American Association of Central Cancer Registries |
NCEH | National Center for Environmental Health |
NGO | nongovernmental organization |
NIH | National Institutes of Health |
PFAS | per- and polyfluoroalkyl substances |
STLT | state, tribal, local, and territorial |
UV | ultraviolet |
VPR-CLS | Virtual Pooled Registry Cancer Linkage System |
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