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Wednesday, June 13

Myraqa7:30 am Breakfast Presentation: FDA Regulation for NGS Innovators

Mya Thomae, CEO, Myraqa

Regulation poses a tricky set of challenges for early-stage technologies, but innovators who plan ahead for the potential requirements can get a leg up on the commercialization process. Come learn how to reduce and mitigate regulatory risks by developing a deeper understanding of FDA logic and requirements.

Concurrent Breakout Sessions 

Roads to Regulation & Certification 

8:30 Chairperson's Remarks

Nazneen Aziz, Ph.D., Director of Molecular Medicine, Transformation Program Office, College of American Pathologists

Nazneen_Aziz8:35 Implementation of Next-Generation Sequencing as a Clinical Test

Nazneen Aziz, Ph.D., Director of Molecular Medicine, Transformation Program Office, College of American Pathologists

The technological advancements in next-generation sequencing have been astounding. The cost of sequencing is now at a price-point where it is conceivable that the tests for genome, exome and targeted gene panel analysis will be offered in many diagnostic laboratories. The College of American Pathologists has convened a group of its member experts including representatives from the Association of Molecular Pathology and the American College of Medical Genetics to develop standards for next generation sequencing as a clinical test. Dr. Aziz will address some of the standards that are being considered by the workgroup for the wet bench workflow and bioinformatics pipeline and the approach that CAP is taking for implementing these standards for this rapidly evolving technology.

Tezak_Zivana9:05 Translating Ultra High-Throughput Sequencing into Clinical Applications – Impacts, Challenges, and Regulatory Considerations

Živana Težak, Ph.D., Associate Director for Science and Technology, Personalized Medicine, Office of In Vitro Diagnostic Device Evaluation and Safety (OIVD), Center for Devices and Radiological Health (CDRH), FDA

Enormous growth in sequencing platform development, in parallel with new iterations of sample preparation and bioinformatics tools, has fueled translation of genomic sequencing into clinical applications. With the emergence of novel sequencing technologies, the FDA needs to prepare for new regulatory challenges while continuing to apply scientific evidence-based oversight. Towards this goal, the FDA is proactively participating with other Federal partners in building the regulatory path for these technologies. Ultimately, the FDA has to balance public safety concerns with the goal of fostering innovation and enabling the translation of emerging technologies that can improve medical care and benefit public health.

Prepare Now for Reimbursement 

Moradian_Mike9:35 Operational Challenges of Implementing Clinical Genomics in Genetics Laboratories

Mike M. Moradian, Ph.D., Director of Operations / Molecular Genetics Scientist, Kaiser Permanente Southern California Regional Genetics Laboratory

Clinical Genomics is a recent concept in today's complex and dynamic Molecular Pathology laboratory set up, which requires detailed operational evaluation. Laboratories could face many challenges when decide to implement Clinical Genomics. These challenges may include: instrumentation, testing platforms, technologist training, assay validation, result generation, bioinformatics expertise in result interpretation, and preparation of an appropriate report for physician/clinic use. Of course regulatory, compliance, and billing/reimbursement issues obligate comparable and necessary action. A brief description of these operational challenges and possible solutions will be discussed.

Owens_Gary10:05 Reimbursement: How Health Plans Evaluate New Technology

Gary M. Owens, M.D., Gary Owens Associates

Health plans are faced with reimbursement issues regarding new and emerging technology on a regular basis. Because plans must manage their client's resources wisely, they must balance allowing appropriate access to effective new technology with the potential to waste resources on technologies that are either an inefficient use of resources or clinically ineffective.  Plans have developed rigorous evidence-based processes to evaluate new technology.  Failure to understand the evidentiary requirements of a health plan can lead to delays in reimbursement or failure to obtain reimbursement at all for new technologies. This session will provide insight into the technology evaluation process and how plans look at clinical evidence, comparative effectiveness and cost when they review new technologies.

10:35 Coffee Break, with Exhibit and Poster Viewing

Impact of Direct-to-Consumer Tests 

8:30 Chairperson's Remarks

West_John8:35 Sequencing in the Family

John West, CEO, Personalis, Inc.

The cost of DNA sequencing has dropped dramatically in recent years but accuracy and interpretation remain challenges.  Sequencing families can help.  I report our experience as the first family of four sequenced by Illumina (in late 2009).  I will also outline advances in genome interpretation technology at our new company, Personalis, Inc.  In our experience, genome sequencing is useful today, but much work remains to be done.

Bloss_Cinnamon9:05 Impact of DTC Genomic Testing at Long-Term Follow-Up

Cinnamon S. Bloss, Ph.D., Assistant Professor, Scripps Translational Science Institute, Scripps Genomic Medicine

Direct-to-Consumer (DTC) genome-wide disease risk profiling is currently available to individuals and provides information about one's genetic risk for a range of common polygenic diseases. The Scripps Genomic Health Initiative (SGHI) was launched in 2008 with the aim of evaluating the psychological, behavioral, and clinical impacts of DTC genomic testing on consumers. In a recently published study of over 2,000 individuals who underwent genomic profiling with the Navigenics Health Compass, we found minimal psychological, behavioral, or clinical impacts of testing at short-term follow-up. In this presentation, we will present new data based on long-term follow-up of the same group of consumers. Overall, findings from these new data are similar to those from short-term follow-up and suggest a general lack of impact of testing with respect to the outcomes assessed. Analyses evaluating the impact of disease risk testing for relevant subgroups of individuals, including those with or without a family history of disease, as well as younger versus older individuals will also be presented. Preliminary data on the impact of DTC pharmacogenomic testing, as well as genetic ancestry testing will also be presented. Finally, new directions for research in consumer genomic testing will be discussed.

Issues with Returning WGS Results  

9:35 Ethical, Legal, and Practical Challenges in Clinical Practice

Hank Greely, J.D., Deane F. and Kate Edelman Johnson Professor of Law, Director, Center for Law and the Biosciences; Professor (by courtesy) of Genetics, Stanford School of Medicine; Chair, Steering Committee of the Center for Biomedical Ethics; and Director, Stanford Interdisciplinary Group on Neuroscience and Society

The sequencing and analysis of patients' whole genome will present substantial technical and scientific challenges. More difficult, however, will be the ethical, legal, and practical challenges, in sequencing, in interpretation, and, most troubling, in returning the results in a useful way to patients. This talk will discuss those issues.

Lyon_Gholson10:05 Clinical Issues with the Return of Next-Generation Sequencing Results

Gholson J. Lyon, M.D., Ph.D., Assistant Professor, Human Genetics, Cold Spring Harbor Laboratory; Research Scientist, Utah Foundation for Biomedical Research; Adjunct Assistant Professor, Psychiatry, New York University Child Study Center

I would like to present here two real-world sequencing scenarios that I have encountered during my research, which I believe highlight some major issues facing the research community currently engaged in the sequencing of human genomes. I believe that it is imperative that exome and whole genome sequencing of humans be performed in environments that allow ready dissemination of these data back to the people donating their samples. This means performing the collection of samples and the subsequent sequencing as rigorously as with any other clinical lab test, so that all data can be returned easily to research participants. I will discuss the clinical, ethical and practical aspects of trying to achieve this.

10:35 Coffee Break, with Exhibit and Poster Viewing

»11:15 Plenary Panel Discussion 

Genomic Medicine: The Road Ahead

There is sharply growing momentum for the introduction of genome sequencing and analysis in clinical medicine, especially with the much hyped '$1,000 genome' poised to arrive in 2013. But while there have been some gratifying case reports of the diagnostic and therapeutic potential of clinical genome sequencing, they only serve to emphasize the daunting challenges that must be tackled for genomic medicine to reach its potential, including issues surrounding interpretation and education, counseling and consent, regulation and reimbursement. In this open, interactive roundtable, a group of speakers frankly debate the road ahead for genomic medicine.


Kevin Davies, Ph.D., Chief Editor, Bio-IT World


Hank Greely, J.D., Deane F. and Kate Edelman Johnson Professor of Law, Director, Center for Law and the Biosciences; Professor (by courtesy) of Genetics, Stanford School of Medicine; Chair, Steering Committee of the Center for Biomedical Ethics; and Director, Stanford Interdisciplinary Group on Neuroscience and Society
Grant Campany, Senior Director, Prize Lead, X Prize Foundation

Linda Avey, Co-Founder and CEO, Curious, Inc.
Stefan Roever, CEO & Founder, Genia Technologies
Andy Watson, Chief Marketing Officer, RainDance Technologies, Inc.

Richard Resnick, CEO, GenomeQuest, Inc.

12:15 pm Close of Morning Session


Stefan Roevergenia 12:30 Luncheon Presentation: Solving the Challenges of DNA Sequencing for Personal Diagnostics

Stefan Roever, CEO & Founder, Genia Technologies

There is no debate that genetic information is needed to truly realize the promise of personalized medicine.  The problem is that today's DNA sequencers cost anywhere from $50K - $1M, rely on complicated optics,  and utilize a complex workflow that does not lend itself to clinical utility. Genia is using standard semiconductor technology to enable massively parallel, single molecule DNA sequencing.  The company has developed a versatile nanopore-based platform which allows for single molecule, electrical, real-time analysis.

»Plenary Session 

Trends in Genetic Diagnostic Platforms 

1:30 Chairperson's Remarks

Kevin Davies, Ph.D., Chief Editor, Bio-IT World

The Clinical Genome Technology Showcase (Sponsorship Opportunities Available)

The success of producing A's,C's,G's, and T's 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 best to use this sequence information in patient care? Hear first hand from the companies that continue to drive the genomics revolution.

Jill HagenkordComplete Genomics 1:35 Whole Genome Sequencing as a Clinical Tool

Jill Hagenkord, M.D., Chief Medical Officer, Complete Genomics

Whole genome sequencing has the potential to impact healthcare in the near future. This talk will highlight examples of cost-effective utilization of this powerful tool in cancer and constitutional diagnostics, as well as foreshadow the impact of WGS in wellness and disease applications.

Ambry Genetics2:05 The Clinical Exome: Diagnosing Genetic Disease Today

Elizabeth Chao Elizabeth Chao, Ph.D., M.D., Director of Translational Medicine at Ambry Genetics
The Clinical Diagnostic Exome™ has expanded the landscape of medical genetics and rapidly translated into a clinically useful tool. Nearly all known disease-causing mutations in humans today are found within exons or protein-coding regions the exome captures, the best understood and most functionally relevant (to date) regions of the genome. This session will focus on the success as well as future challenges of clinical exome testing, from the first company to launch exome testing into the clinical space. 

Paul BillingsLife_Technologies2:35 Speed Cures:  Genomic Information Enters Clinical Medicine

Paul R. Billings M.D., Ph.D., CMO, Life Technologies

Except in dire emergencies, medicine has been historically slow and deliberative.  The physician, striving to be a compassionate healer, was not hurried.  The resulting system of care was for many ineffective, costly, slow, error prone and an "odyssey".  The rapid availability of basic, high quality genomic information is transforming healthcare provision and will alter many practices.  This talk will highlight clinical care issues that are evolving as democratized comprehensive genetic analysis enters medical care.

Illumnia logo3:05 Defining the Complete Solution for Clinical Interpretation of a Whole Genome Sequence

Tina Hambuch, Ph.D., Senior Scientist, Illumina Clinical Services Laboratory, Illumina, Inc.

Platform advances have enabled greater access to whole genome sequencing by the clinical community however extracting the full medical value of this information remains a community challenge.  Certified since 2009, the Illumina Clinical Laboratory is the only CLIA/CAP service for whole genome sequencing.  In this talk, Illumina will discuss a workflow for clinical interpretation and reporting, the need for a clinical grade database, and introduce the MyGenome app for visualization and communication of clinical intepretations.


3:35 Refreshment Break, Last Chance for Exhibit and Poster Viewing

Steven Shak4:00 Progress in Building a Comprehensive Information and Technology Infrastructure for Whole Transcriptome RNA-Seq and Targeted Mutation Analysis across Large Populations of Cancer Patients

Steven Shak, M.D., Chief Medical Officer, Genomic Health

As a society, we spend billions of dollars treating diseases we don't understand -- resulting in large misallocations of resources and poor outcomes. Massively parallel sequencing is a powerful new tool for re-defining disease at the molecular level and transforming the way medicine is practiced. This talk will center around the ability to scale whole transcriptome RNA-seq and targeted mutation analysis on fixed paraffin-embedded tissues across large populations of cancer patients with the goal of merging the healthcare system and the clinical trial system to accelerate our understanding of disease and facilitate cures.

Grupe_Andrew4:30 Where the Rubber Meets the Road – Translating Next-Generation Sequencing from a Research Application to a Standardized Lab-Developed Test in a CLIA Lab

Andrew Grupe, Ph.D., Senior Director Pharmacogenomics, Celera/Quest Diagnostics

Next-generation sequencing (NGS) has transformed the research sequencing landscape. These technologies have enabled a plethora of new discoveries by allowing us to answer questions more cost-effectively than in past and ask questions that were impossible to address by capillary electrophoresis sequencing or high density chip platforms. Translating NGS applications from a research environment to a standardized test offering in a clinical reference laboratory presents multiple challenges. These range from identifying NGS tests that provide clinical value beyond existing tests on traditional platforms, increased need for a bioinformatics infrastructure to interpret and report results, genome sequence versioning and subscription access to permit revisiting a prior sequence because of the identification of new indications, to consequences of updates to the technology hardware and software as well as reagents of the rapidly changing NGS field. Changes in the regulatory landscape that may impact the use of these technologies are also being contemplated. This presentation will offer a users perspective of these issues.

5:00 Panel Discussion with Afternoon Speakers

5:30 Close of Conference

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