June 25-28, 2013
Bio-IT World & Cambridge Healthtech Institute’s Second Annual
TCGC: The Business of Integration and Implementation
Day 1 | Day 2 | Download Brochure
Thursday, June 27
7:30 am Conference Registration and Morning Coffee
8:30 Chairperson’s Opening Remarks
8:40 Keynote Presentation
Regulatory Considerations and Challenges for Ultra-High-Throughput Sequencing-Based Clinical Applications
Živana Težak, Ph.D., Associate Director, Science and Technology, Personalized Medicine, Office of In Vitro Diagnostic Device Evaluation and Safety (OIVD), Center for Devices and Radiological Health (CDRH), FDA
The use of diagnostic tests that determine genetic sequence variation to guide patient care is rapidly expanding. At the same time, this rapid development of genomic sequencing technology and applications is raising new policy and regulatory questions. Some of the questions include efficient approaches for adequate demonstration of analytical performance. While there are no broadly accepted standards or methods to analytically validate ultra-high-throughput sequencing tests yet, there are a number of efforts underway, including establishing reference material that can aid in assessing analytical performance. The additional challenge in informed clinical application of sequencing information is inadequate knowledge about correlations between genomic variations and their clinical significance. Although there is a wealth of data being generated about genetic variation, a lot of it is fragmented and there is a need for concerted efforts to curate and organize this knowledge in a way that can support its clinical use. FDA is taking a number of steps to encourage cross-collaboration in this area, to be able to balance public safety concerns with fostering innovation and enabling the translation of emerging technologies that can improve medical care and benefit public health.
9:25 The Current State of Gene Patents
John Conley, J.D., Ph.D., William Rand Kenan, Jr. Professor of Law, University of North Carolina
This presentation will analyze the current state and likely future of gene patents. A primary focus will be on the ongoing AMP vs. Myriad Genetics case, now before the Supreme Court, which is the first case to raise squarely the question of whether and in what forms DNA sequences can be patented. A decision is possible before the conference, so the presentation may be able to provide a timely report on what the Court has decided. The presentation will also review other, less publicized ways in which gene patents have been effectively challenged, including through the nonobviousness and written description requirements. Moreover, current and future sequencing technologies may be bypassing single-gene patent claims, rendering them less valuable regardless of what the Supreme Court decides, and motivating companies to seek other kinds of commercial advantages. Myriad Genetics’ announced business strategy for Europe will be discussed as a reflection of this new reality.
10:00 Coffee Break in the Exhibit Hall with Poster Viewing
10:45 Privacy and Progress in Whole Genome Sequencing: The Presidential Commission Report
Elizabeth Pike, J.D., LL.M., Senior Policy and Research Analyst, Presidential Commission for the Study of Bioethical Issues
In October 2012, the Presidential Commission for the Study of Bioethical Issues released its report Privacy and Progress in Whole Genome Sequencing. The report concludes that to realize the enormous promise that whole genome sequencing holds for advancing clinical care and the greater public good, individual interests in privacy must be respected and secured. The Commission offers 12 recommendations to help craft policies that are flexible enough to ensure progress and responsive enough to protect privacy. In this session, we will discuss some of the ethical and privacy concerns raised by the increased use of whole genome sequencing and the ways that the Commission chose to address these concerns.
11:20 Mapping the Next-Generation Sequencing Industry
Margaret Curnutte, Ph.D., Research Fellow, Baylor College of Medicine
This presentation provides an overview of the emerging business models within the next-generation sequencing industry. From sequencing to variant calling to annotating and analyzing and data storage, companies in this area of innovation are developing and/or pairing such features in novel ways that challenge policy implications for the clinic. These implications will be discussed with reference to the current regulatory landscape for genetic testing technologies.
11:55 Close of Session
12:00 pm Luncheon Presentation (Sponsorship Opportunity Available) or Lunch on Your Own
1:15 Chairperson’s Remarks
The Clinical Genome Technology Showcase (Sponsorship Opportunities Available)
The success of producing As, Cs, Gs, and Ts at exponentially lower costs, along with longer and more accurate reads, is revolutionizing genomic diagnostic medicine. Thus, the promise of next-generation sequencing has shifted from discovery to clinical utility. Now the question is: how do we best use this sequence information in patient care? Hear first-hand from the companies that continue to drive the genomics revolution.
1:20 - 1:35 Interpreting Molecular Data from Sequencing Platforms with Leading Edge Knowledge for Treatment and Diagnostic Options
Jennifer Carter, Founder & CMO, N-of-One, Inc.
Physicians, labs, institutions and patients can efficiently make the best diagnostic and treatment choices, The PrecisionWorks framework enables experts to translate molecular data specific to each patient and the extensive available knowledge for each cancer type into state-of-the-art, clinically actionable insights and therapeutic options focused at the point of care.
1:35 - 2:05 Clinical Interpretation of Genomes in Healthy Individuals
Tina Hambuch, Ph.D., Staff Scientist, Illumina
2:05 - 2:35 Finally! Easy Access to Whole Human Genomes
Cliff Reid, Ph.D., CEO, Complete Genomics
Complete is developing software to deliver genomic information from any and all sources in an actionable, personalized form. As a first step,Genome Voyager™ is now available as an educational tool that enables researchers and academics to gain first-hand experience analyzing whole human genomes. After joining the Genome Voyager community, users can visualize and explore published whole human genomes. Users also have the opportunity to collaborate with colleagues and discuss their findings.
2:35 - 3:05 Sponsored Technology Presentation
Speaker to be Announced
3:05 - 3:35 Sponsored Technology Presentation
Speaker to be Announced
3:35 Refreshment Break in the Exhibit Hall with Poster Viewing
4:15 The New NIH Genetic Testing Registry: Bringing Together Science, Medicine and Policy
Wendy Rubinstein, M.D., Ph.D., Senior Scientist and Director, NIH Genetic Testing Registry, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health
Dr. Rubinstein will introduce the GTR, a free online resource that provides centralized access to comprehensive genetic test information that is voluntarily submitted by test providers. She will survey the content of GTR including registered laboratories, accessioned tests for heritable conditions, and the quality measures and evidentiary basis of the tests. NCBI’s representation of information about clinically relevant variants will also be discussed.
4:45 Sponsored Presentation (Opportunity Available)
5:15 Evening Reception
6:30 Close of Day
Day 1 | Day 2 | Download Brochure