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WEDNESDAY, AUGUST 20
7:15 am Registration
7:30 – 8:25 Problem-Solving Breakout Discussions with Continental Breakfast
These interactive discussion groups are open to all attendees, speakers, sponsors, & exhibitors. Participants choose a specific breakout discussion group to join. Each group has a moderator to ensure focused discussions around key issues within the topic. This format allows participants to meet potential collaborators, share examples from their work, vet ideas with peers, and be part of a group problem-solving endeavor. The discussions provide an informal exchange of ideas and are not meant to be a corporate or specific product discussion.
Strategies for Accurate Variant Annotation
Moderator: Carol Saunders, Ph.D., FACMG, Director, Molecular Genetics Laboratory, Department of Pathology & Laboratory Medicine; Associate Professor, Department of Pathology, UMKC School of Medicine, Children’s Mercy Hospital
- Data sharing--what, if anything, are people doing to help further this cause?
- The ACMG draft guidelines for variant interpretation. Are people using these?
- Handling the incidentalome
Policy and Ethics Considerations in Genetic Testing
Moderator: Robert Cook-Deegan, M.D., Research Professor, Institute for Genome Sciences & Policy, Sanford School of Public Policy, Duke University
- Who will be getting genetic tests in the future?
- Will they even be considered "genetic tests," or will genomic data be part of everyone's medical record or personal data?
- How will we access our DNA records, and who will have access to the underlying data?
- Do we have a right to access data about ourselves?
- How will we make sense of genomic variants when such understanding requires sharing not just genomic data, but also health outcomes, demographics, geographic, socioeconomic and other data?
- When we find genomic variants, what do we tell people about them? Do we tell everyone everything that might affect their health? Their life? Or just the items we are sure we know are highly predictive and "actionable?"
- Is there a right "not to know?"
Additional Breakout Discussions to be Announced
8:25 Chairperson’s Opening Remarks
Sami S. Amr, Ph.D., Harvard Medical School; Partners Center for Personalized Genetic Medicine
8:30 Integration of Genomics into Medical Practice: Educational Challenges
Bruce Korf, M.D., Ph.D., Wayne H. and Sara Crews Finley Chair, Medical Genetics; Professor and Chair,Genetics; Director, Heflin Center for Genomic Sciences, University of Alabama at Birmingham
Genomic approaches offer new possibilities to improve the approach to maintaining health as well as diagnosing and treating disease. Most practicing health providers were educated prior to the genomics era, however, and the pace of progress in genomics is very rapid. New paradigms are therefore needed to help providers gain competency in the use of genomics in their practice. This talk will discuss some of the educational challenges and possible approaches to improve health professional education in genomics.
9:00 The Implementation of Clinical Genome-Wide Sequencing into Practice: Where We Are Coming From and Where We Are Going
David P. Dimmock, M.D., Associate Professor, Pediatrics, Medical College of Wisconsin
9:30 CLOSING PANEL: Examining the Future of Genomic Medicine
Moderator: David P. Dimmock, M.D., Associate Professor, Pediatrics, Medical College of Wisconsin
Panelists: Bruce Korf, M.D., Ph.D., Wayne H. and Sara Crews Finley Chair, Medical Genetics; Professor and Chair,Genetics; Director, Heflin Center for Genomic Sciences, University of Alabama at Birmingham
Peter Nagy, Ph.D., Director, Clinical Next-Generation Sequencing Lab; Assistant Professor, Pathology and Cell Biology, Columbia University
10:30 Coffee Break in Exhibit Hall with Poster Viewing
11:00 Chairperson’s Opening Remarks
Harry Glorikian, Healthcare Consultant
11:10 Discussion: Regulatory Review of Clinical Sequencing Assays
Moderator: Harry Glorikian, Healthcare Consultant
Guest Speaker: Jennifer Dickey, RAC, Ph.D., Office of In Vitro Diagnostics, DIHD, US Food and Drug Administration
In November of 2013, the FDA issued the first clearances of Next Gen Sequencing- (NGS) based assays. There have additionally been a number of clinical trials approved recently that utilize NGS-based assays for patient enrollment or stratification. In light of the expanding roles that new sequencing technologies are playing in clinical decision making, this talk will focus on critical elements that FDA considers when evaluating NGS validation using the recent clearances/approvals as examples. There will also be a discussion of any new communications that FDA has issued in regard to the regulatory review of NGS- based assays. Following the discussion there will be a Q&A with the audience.
11:55 Next-Generation Sequencing in Clinical Practice: Case Reports of Clinical Utility and Reimbursement
Moderator: Elaine Lyon, Ph.D., Medical Director, Molecular Genetics, ARUP
Andrea Ferreira-Gonzalez, Ph.D., Professor, Pathology; Director, Molecular Diagnostics Lab, Virginia Commonwealth University
Madhuri Hegde, Ph.D., FACMG, Professor, Human Genetics; Executive Director, Emory Genetics Laboratory, Emory University School of Medicine
The landscape of next-generation sequencing diagnostics is changing rapidly. Clinical laboratories are offering highly complex tests using new technologies, but face challenges in reimbursement. To be reimbursed for these tests, laboratories will need to address clinical utility as well as clinical validity. Clinical cases that demonstrate the utility of genomic oncological and inherited disease testing will be presented. Experiences with reimbursement of these tests will be discussed.
12:40 pm Close of Conference
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