The National Cancer Institute (NCI) convened a Workshop on February 22–23, 2017, in Rockville, Maryland, to discuss issues related to cancer genetic testing approaches, current practices, and resources for case and family ascertainment in hereditary cancers, using Lynch syndrome as an example.
Lynch syndrome is a genetically inherited disorder that increases the risk of colorectal and endometrial cancers and several other malignancies. It is estimated that in the United States, up to 1 million people live with Lynch syndrome, but many are unaware of it. One approach recommended by the Cancer Moonshot℠ Blue Ribbon Panel for identifying those with Lynch syndrome is testing of colorectal and endometrial cancers for specific markers. When the tumor test is abnormal, additional genetic testing and counseling is indicated to determine whether an individual has Lynch syndrome. If Lynch syndrome is diagnosed, then other family members could be tested.
During the Workshop, the Cancer Moonshot℠ Blue Ribbon Panel Report recommendations on cancer prevention and early detection in individuals at high risk for cancer were reviewed, and discussion topics included health care delivery, gaps in current knowledge, and identification of resources needed to inform implementation.
The one-and-a-half-day Workshop included presentations and discussions on the following topics:
- an overview of the Cancer Moonshot℠ Blue Ribbon Panel recommendations
- the patient/family perspective on living with Lynch syndrome
- opportunities and challenges in various settings related to cancer registries and universal screening
- Lynch syndrome testing approaches
- health care delivery approaches to development, implementation, and evaluation
The Workshop took place from 8:00 a.m. to 5:00 p.m. ET on February 22, 2017, and from 8:00 a.m. to noon ET on February 23, 2017.
Day 1: February 22, 2017
| Time | Topic and Speakers |
|---|---|
| 7:30–8:25 a.m. | Registration |
| 8:25–8:30 a.m. | Welcome Kathy J. Helzlsouer, M.D., M.H.S. Associate Director, Epidemiology and Genomics Research Program (EGRP), Division of Cancer Control and Population Sciences (DCCPS), NCI |
| 8:30–8:50 a.m. | Opening Remarks Douglas R. Lowy, M.D. Acting Director, National Cancer Institute (NCI) Lisa C. Richardson, M.D., M.P.H. Director, Division of Cancer Prevention and Control (DCPC), Centers for Disease Control and Prevention (CDC) |
| 8:50–9:50 a.m. | Session 1: Perspectives on Hereditary Susceptibility to Cancer Moderator: Kathy J. Helzlsouer, M.D., M.H.S. Associate Director, Epidemiology and Genomics Research Program (EGRP), Division of Cancer Control and Population Sciences (DCCPS), NCI |
| 8:50-9:10 | Lynch Syndrome Overview Patrick M. Lynch, J.D., M.D. Professor, Department of Gastroenterology, Hepat & Nutr, MD Anderson Cancer Center |
| 9:10-9:25 | Patient / Family Perspective on Living with Lynch Syndrome Andi Dwyer Director of Health Promotion, Fight Colorectal Cancer |
| 9:25-9:50 | Discussion and Audience Response Discussant: C. Richard Boland, M.D. Professor of Medicine, University of California San Diego School of Medicine |
| 9:50-10:10 a.m. | Break |
| 10:10 a.m.–12:10 p.m. | Session 2: Registries and Universal Screenings: Opportunities and Challenges in Various Settings Moderator: Juan Rodriguez, M.P.H., M.S. Epidemiologist, DCPC, CDC |
| 10:10-10:30 | International Experience Nancy Baxter, M.D., Ph.D., F.R.C.S.C., F.A.C.R.S. Professor of Surgery, University of Toronto |
| 10:30-10:45 | Colon Cancer Family Registry Noralane M. Lindor, M.D. Professor, Mayo Clinic Mark A. Jenkins, Ph.D. Director and Professor, Centre for Epidemiology & Biostatistics, The University of Melbourne |
| 10:45-11:00 | Lynch Syndrome Screening Network Debra Duquette, M.S., C.G.C. Adult Genetics/Genomics Coordinator, Michigan Department of Health and Human Services |
| 11:00-11:15 | Ohio CRC Universal Screening for Lynch Syndrome Results Heather Hampel,M.S., L.G.C. Licensed Genetic Counselor, Clinical Cancer Genetics Program and Professor, Division of Human Genetics, Department of Internal Medicine, The Ohio State University |
| 11:15-11:30 | Integrating Genetic Testing for Lynch Syndrome into Managed Care Jessica Ezzell Hunter, Ph.D. Assistant Investigator, Center for Health Research, Kaiser Permanente Northwest |
| 11:30-12:10 | Discussion and Audience Response Discussant: Karen H. Lu, M.D. Professor, Department of Gynecologic Oncology, MD Anderson Cancer Center |
| 12:10–1:10 p.m. | Lunch on Your Own (cafeteria on site) |
| 1:10–3:10 p.m. | Session 3: Lynch Syndrome Testing Approaches Moderator: Asad Umar, D.V.M., Ph.D. Chief, Gastrointestinal and Other Cancers Research Group, Division of Cancer Prevention (DCP), NCI |
| 1:10-1:40 | Germline and Tumor-based Testing–MSI/IHC/sequencing Stanley R. Hamilton, M.D. Head, Division of Pathology and Laboratory, MD Anderson Cancer Center |
| 1:40-1:55 | Panel Tests and Variants of Uncertain Significance Zsofia Stadler, M.D. Medical Oncologist, Memorial Sloan Kettering Cancer Center |
| 1:55-2:10 | Chemoprevention Trials in Lynch Syndrome Sir John Burn, M.D., F.R.C.P., F.R.C.P.E., F.R.C.P.C.H., F.R.C.O.G., F.Med.Sci. Professor of Clinical Genetics and Chief Investigator, Cancer Prevention Project 3, Institute of Genetic Medicine, Newcastle University; Non-Executive Director, National Health Service England |
| 2:10-2:30 | Ethical Considerations in Screening for Hereditary Cancers Lawrence Brody, Ph.D. Director, Division of Genomics and Society, National Human Genome Research Institute |
| 2:30-3:10 | Discussion and Audience Response Discussants: Zsofia Stadler, M.D., Medical Oncologist, Memorial Sloan Kettering Cancer Center Stanley R. Hamilton, M.D. Head, Division of Pathology and Laboratory, MD Anderson Cancer Center |
| 3:10–3:30 p.m. | Break |
| 3:30–4:55 p.m. | Session 4: Health Care Delivery: Approaches to Development, Implementation and Evaluation Moderator: David Chambers, D.Phil Deputy Director, Implementation Science, DCCPS, NCI |
| 3:30-3:50 | Implementation Science David Chambers, D.Phil Deputy Director, Implementation Science, DCCPS, NCI |
| 3:50-4:05 | Public Health Perspective and Approach: State and SEER Registries Juan Rodriguez, M.P.H., M.S. Epidemiologist, DCPC, CDC |
| 4:05-4:20 | Meeting the Needs of Care Delivery (Workforce Availability) Joy Larsen-Haidle, M.S., C.G.C. Past President, National Society of Genetic Counselors |
| 4:20-4:40 | Discussion and Audience Response Discussants: Muin J. Khoury, M.D., Ph.D. Director, Office of Public Health Genomics, CDC David Ransohoff, M.D. Professor, Medicine; Clinical Professor, Epidemiology, University of North Carolina-Chapel Hill |
| 5:00 p.m. | Adjourn |
Day 2: February 23, 2017
| Time | Topic and Speakers |
|---|---|
| 8:00–8:05 a.m. | Day 2 Welcome and Summary of Day 1 Asad Umar, D.V.M., Ph.D. Chief, Gastrointestinal and Other Cancers Research Group, DCP, NCI |
| 8:05–10:35 a.m. | Session 4: Health Care Delivery: Approaches to Development, Implementation and Evaluation (continued from Day 1) Moderator: Erica Breslau, Ph.D., M.P.H. Program Director, Health Systems and Interventions Research Branch, Healthcare Delivery Research Program, DCCPS, NCI |
| 8:05–9:05 a.m. | CISNET Comparative Modeling Iris Landsdorp-Vogelaar, Ph.D. Assistant Professor, Department of Public Health, Erasmus MC |
| 9:05–9:35 a.m. | Challenges in Diverse Care Settings Greg Feero, M.D., Ph.D. Faculty and Research Director, Maine Dartmouth Family Medicine Residency |
| 9:35–10:05 a.m. | Payer / Economic / CER Perspective Uri Ladabaum, M.D., M.S. Professor of Medicine, Senior Vice Chief Director, Gastrointestinal Cancer Prevention Program, Division of Gastroenterology and Hepatology, Stanford University School of Medicine |
| 10:05–10:35 a.m. | Discussion and Audience Response Discussants: Ned Calonge, M.D., M.P.H. President and CEO, The Colorado Trust and Associate Professor of Family Medicine, Colorado School of Medicine, University of Colorado, Denver and Associate Professor of Epidemiology, Colorado School of Public Health Ravi Sharaf, M.D., M.S. Associate Director of Clinical Cancer Genetics and Assistant Professor of Medicine, Northwell Health/Hofstra University School of Medicine |
| 10:35–10:50 a.m. | Break |
| 10:50–11:50 a.m. | Session 5: Setting Short- and Long-term Goals Moderators: Kathy J. Helzlsouer, M.D., M.H.S. Associate Director, Epidemiology and Genomics Research Program (EGRP), DCCPS, NCI Asad Umar, D.V.M., Ph.D. Chief, Gastrointestinal and Other Cancers Research Group, DCP, NCI |
| 11:50 a.m.–12:00 p.m. | Meeting Summary & Next Steps |
| 12:00 p.m. | Adjourn |
National Cancer Institute
Shady Grove Campus
9609 Medical Center Drive
Joseph F. Fraumeni, Jr., M.D. Conference Room (Room TE406/408/410)
Rockville, MD 20850
View map with nearby hotels, driving directions and public transportation options.
Kathy Helzlsouer, M.D., M.H.S
Division of Cancer Control and Population Sciences (DCCPS), NCI (Co-Chair)
Asad Umar, D.V.M., Ph.D.
Division of Cancer Prevention (DCP), NCI (Co-Chair)
Maria Isabel Achatz, M.D., Ph.D.
Division of Cancer Epidemiology and Genetics, NCI
Carmen Allegra, M.D.
Division of Cancer Treatment and Diagnosis, NCI
Erica Breslau, Ph.D., M.P.H.
DCCPS, NCI
Laura Brockway-Lunardi, Ph.D.
Center for Research Strategy (CRS), NCI
David Chambers, D.Phil
DCCPS, NCI
Barbara Dunn, M.D., Ph.D.
DCP, NCI
Emily Greenspan, Ph.D.
Center for Strategic Scientific Initiatives, NCI
Amy Kennedy, Ph.D., M.P.H.
CRS, NCI
Muin Khoury, M.D., Ph.D.
Office of Public Health Genomics, Centers for Disease Control and Prevention, and DCCPS, NCI
Juan Rodriguez, M.P.H., M.S.
Division of Cancer Prevention and Control, CDC
Nonniekaye Shelburne, C.R.N.P., M.S., A.O.C.N.
DCCPS, NCI
Elizabeth Woodhouse, Ph.D.
Division of Cancer Biology, NCI
Questions about this Workshop can be directed to NCILynchSyndrome@mail.nih.gov.