8:30–8:35 a.m.

Welcoming Remarks

Sharon F. Terry, Roundtable Co-Chair

President and Chief Executive Officer

Genetic Alliance

Geoffrey Ginsburg, Roundtable Co-Chair

Director, Genomic Medicine, Duke Institute for Genome Sciences & Policy

Executive Director, Center for Personalized Medicine, Duke Medicine

Professor of Medicine and Pathology, Duke University Medical Center

8:35–8:45 a.m.

Charge to Workshop Speakers and Participants

David Veenstra

Professor, Pharmaceutical Outcomes Research and Policy Program

University of Washington

8:45–10:15 a.m.

Systematic Evidence Gathering and Actionability Determination

•   What process do you use to identify studies and data?

•   How are you selecting tests/variants for full evidence review and assessment?

•   How do you critically assess the data and synthesize for conclusion?

•   How do you present the results of the evidence review and evaluation to policy makers?

•   How do you determine if clinical action is recommended or taken for specific genomic variants?

•   How do you define actionability?

•   What are the challenges you have encountered?

•   What have you done to overcome these challenges?

Jonathan Berg

Assistant Professor

Department of Genetics

University of North Carolina School of Medicine

Katrina Goddard

Senior Investigator

Kaiser Permanente Center for Health Research

Shashikant Kulkarni

Director of Cytogenomics and Molecular Pathology

Genomics and Pathology Services

Washington University School of Medicine

Heidi Rehm

Associate Professor of Pathology, Brigham and Women’s Hospital and Harvard Medical School

Director, Laboratory for Molecular Medicine

Partners Healthcare Center for Personalized Genetic Medicine

Madhuri Hegde

Executive Director, Emory Genetics Laboratory

Professor, Department of Human Genetics

Emory University School of Medicine

Mark Robson

Clinic Director, Clinical Genetics Service

Department of Human Genetics

Memorial Sloan–Kettering Cancer Center

10:15–10:30 a.m.

BREAK

10:30–11:30 a.m.

Discussion with Speakers and Attendees

11:30 a.m.–12:30 p.m.

WORKING LUNCH

12:30–1:00 p.m.

Reimbursement Decisions

•   Under what process (existing or novel) would genome or multi-gene panel sequencing be evaluated? Describe the process.

•   What are your criteria for coverage?

•   Does the extent to which information is reported in the electronic health record affect your decision?

•   Under what circumstances are high-throughput sequencing tests covered by payers?

Robert McDonough

Head of Clinical Policy and Research Aetna

Louis Jacques

Director, Coverage and Analysis Group

Office of Clinical Standards and Quality

Centers for Medicare & Medicaid Services

1:00–1:35 p.m.

Discussion with Speakers and Attendees

1:35–2:20 p.m.

Guideline Development

•   How are you applying your guideline development process to next-generation sequencing?

•   What do you think are the top three challenges to developing guidelines in the era of next-generation sequencing?

•   Do you consider the Institute of Medicine recommendations for developing clinical practice guidelines in your process?

Robert C. Green

Director, Genomes to People (G2P) Research Program

Associate Director for Research, Partners Center for Personalized Genetic Medicine

Division of Genetics, Department of Medicine

Brigham and Women’s Hospital and Harvard Medical School

Howard M. Saal

Director, Clinical Genetics

Division of Human Genetics

Cincinnati Children’s Hospital Medical Center

Gary Lyman

Co-Director, Hutchinson Institute for Cancer Outcomes Research

Fred Hutchinson Cancer Research Center

University of Washington

2:20–2:55 p.m.

Discussion with Speakers and Attendees

2:55–3:10 p.m.

BREAK

3:10–4:10 p.m.

Patient Care and Health Decisions

•   Upon what evidence is the decision made to use large-scale sequencing over a more targeted approach?

•   Does reimbursement play a role in ordering a whole genome test?

•   How do you see the role of patient preferences in what testing is done and what information is disclosed?

•   How well do patients understand discussions about genomic testing? And, what is the patient response to reports of incidental findings?

Kathleen Hickey

Assistant Professor of Nursing

Columbia University School of Nursing

Jessica Everett

Clinical Instructor, Internal Medicine

Certified Genetic Counselor

Cancer Genetics Clinic

University of Michigan

Amy Hower

Neuroscientist and Patient

Michael Gambello

Associate Professor of Human Genetics and Pediatrics

Section Chief, Division of Medical Genetics

Emory University School of Medicine

4:10–4:45 p.m.

Discussion with Speakers and Attendees

4:45–5:30 p.m.

Developing Transparent and Pragmatic Frameworks for Evidence Evaluation and Policy Development in the Absence of an Ideal Evidence Base

•   What are the top three challenges to developing clinical and reimbursement policies in the era of genomic testing?

•   What approaches do you think can help address these challenges?

•   To what extent does clinical context matter?

•   How do risk–benefit tradeoffs influence evidentiary requirements?

Jonathan Berg

Assistant Professor

Department of Genetics

University of North Carolina School of Medicine

Jessica Everett

Clinical Instructor, Internal Medicine

Certified Genetic Counselor

Cancer Genetics Clinic

University of Michigan

Katrina Goddard

Senior Investigator

Kaiser Permanente Center for Health Research

Robert C. Green

Director, Genomes to People (G2P) Research Program

Associate Director for Research

Partners Center for Personalized Genetic Medicine

Division of Genetics, Department of Medicine

Brigham and Women’s Hospital and Harvard Medical School

Shashikant Kulkarni

Director of Cytogenomics and Molecular Pathology

Genomics and Pathology Services

Washington University School of Medicine

Robert McDonough

Head of Clinical Policy and Research

Aetna

5:30–5:45 p.m.

Summary and Concluding Remarks

5:45 p.m.

ADJOURN