Roads to Regulation & Certification 

8:30 Chairperson's Remarks

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

8:35 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.

9:05 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 

9:35 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.

10:05 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

8:35 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.

9:05 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.

10:05 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.

Moderator:

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

Panelists:

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.
 

»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.

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.

2:05 The Clinical Exome: Diagnosing Genetic Disease Today

 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. 

2:35 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.

3:05 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.