Japan-Flag Korea-Flag China-Simplified-Flag China-Traditional-Flag  

Premier Sponsors:  

Beckman Coulter Life Sciences 

Boston Healthcare


Charles River Discovery




Silicon Biosystems   




  View All Sponsors 

Archived Content

Genetic Screening and Diagnosis 

View Program Video  

Genomic Screening and Diagnosis Promo Video 

Day 1 | Day 2 | Day 3 | Download Brochure 

Tuesday, February 21

7:00 am Registration

Sponsored by
Hologic Molecular Diagnostics - small logo 

9:40 Grand Opening Refreshment Break in the Exhibit Hall with Poster Viewing



11:00 Chairperson’s Opening Remarks

Stephen Kingsmore, M.B., Ch.B., BAO, D.Sc., FRCPath, Director, Center for Pediatric Genomic Medicine, Children’s Mercy Hospital


11:10 Genetic Testing in the Genomic Era: The Emerging Sea Change in the Genetic Testing Landscape

Bruce KorfBruce R. Korf, M.D., Ph.D., Wayne H. and Sara Crews Finley Chair in Medical Genetics; Professor and Chair, Department of Genetics; Director, Heflin Center for Genomic Sciences, University of Alabama at Birmingham

Genetic testing has been possible for several decades, but until recently high resolution analysis was only possible at the level of single genes, whereas genome-scale testing could provide only a high level view of major genomic rearrangements.  Genomic analysis is now possible at a very high level of resolution and the cost of whole genome analysis is plummeting.  These developments will catalyze wide scale change in how genetic testing is performed and used, which in turn will require innovations in clinical and laboratory practice, regulation, intellectual property management, health care reimbursement, medical informatics, and many other areas both in the healthcare industry and in society as a whole.

11:40 Genetic Screening: Evolving Science, Evolving Ethics

John Lantos, Director, Bioethics Center, Children’s Mercy Hospital

This presentation will review recent debates about the ethics of genetic screening in children. I will argue that recent changes in the technology of screening, the goals of screening programs, and the public understanding of genetics lead to a shifting bioethical paradigm in which there is less need for cautionary public policies and more room for informed parental decisions.

12:10 pm Research Advances in Translational Genomics and Health Outcomes

Robert C. Green, M.D., MPH, 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

Technical advances in genomic sequencing are providing unprecedented opportunities to apply genomics to human health.  However, little is known about the impact of disclosing genetic risk information to individuals.  Drawing upon experimental studies in genetic risk disclosure and evidence from the study of direct-to-consumer genetic testing services, this presentation will summarize current research and look forward to the integration of whole genome sequencing in the practice of medicine.

12:40 - 1:40 Luncheon Presentations Sponsored by Covance and Affymetrix:

Sponsored by
Covance LARGE logo 
High-Throughput DMET Profiling for Drug DevelopmentMark Parrish, Sr. Manager, Assay Development, Covance Genomics LaboratoryLaboratory An important aspect of personalized medicine is understanding how genotypic factors influence drug metabolism.  To this end, the Covance Genomics Laboratory has implemented the Affymetrix DMET Plus assay for use in clinical research This talk will describe how CGL implemented the DMET Plus assay to produce high throughput and high quality data.

Sponsored by
Moving Pharmacogenetics from the Laboratory to the ClinicWilliam Douglas Figg Sr., Pharm. D., M.B.A., Head of the Clinical Pharmacology Program and Molecular Pharmacology Section, National Cancer Institute, National Institutes of HealthThe field of pharmacogenetics is rapidly expanding though we are still in the early stages of characterizing how genetics affects pharmacotherapy and applying that information in the clinic.  In the face of accumulating evidence, the NIH Clinical Center has instituted pharmacogenetics-based approaches.

1:45 Dessert in the Exhibit Hall with Poster Viewing



2:15 Chairperson’s Remarks

Charles Cantor, Ph.D., CSO, Sequenom, Inc.

2:20 Non-Invasive Personalized Genomics

Charles Cantor, Ph.D., CSO, Sequenom, Inc.

Second generation DNA sequencing and DNA mass spectrometry provide complementary, synergistic ways of analyzing nucleic acids in patient samples like blood plasma that can be obtained non-invasively. Sequencing is best where large genomic regions or even the entire genome must be scanned and where the analytes of interest exist in a relatively narrow concentration range. Mass spectrometry is best where at most a few hundred loci need to be examined but high sensitivity or high dynamic range are required. Examples will be shown in a number of areas including non-invasive prenatal diagnostics by plasma analysis and detection of somatic oncogene mutations in plasma. A pilot study in which an entire fetal genome was sequenced from maternal plasma will also be described. The implications of this study are that once sequencing costs are inevitably reduced; there is almost no limit to the amount of personal genomic information that can be obtained non-invasively.

2:50 Adventures in Personal Genomics and Whole Omics Profiling

Michael Snyder, Ph.D., Professor & Chair, Genetics, Cardiovascular Medicine, Stanford University School of Medicine

Genomic medicine will require the integrated analysis of genomic information and omics information.  We have determined the genome sequence of an individual at high accuracy and performed an integrated analysis of omics profiles during normal and virally infected states. Omics profiling of transcriptomes, proteomes, cytokines, metabolomes and autoantibody omes have revealed dynamic and broad changes in molecular components occur during infection. Analysis of heteroallelic expression suggests significant changes in differential allele expression in healthy and disease states.  Our study relates personal genomic information to global functional omics activity for physiological and medical interpretation of healthy and disease states.

3:20 Q&A with Day One Speakers

3:50 Sponsored Presentations (Opportunities Available)

4:20 Reception in the Exhibit Hall (Sponsorship Available)

5:20 Breakout Discussions in the Exhibit Hall

Concurrent problem solving breakout discussions, open to all attendees, speakers, sponsors, and exhibitors, provide a forum for discussing key issues and meeting potential collaborators. Plan to take part and explore these topics in-depth. Please pick a topic of your choice, find your table and join in.

Integrative Genomics Approaches for Personalized Medicine 

Moderator: Ilya Kupershmidt, Co-founder and Vice President of Products, NextBio

  • Strategic integration of NGS in translational research and the clinic
  • Genomic biomarkers in drug development: optimizing patient stratification in clinical trials
  • When to seq- a cure: clinical indications for targeted or whole genome sequencing

Integration of Sequencing Technologies to the Clinic

Moderator: Stephen Kingsmore, M.B., Ch.B., BAO, D.Sc., FRCPath, Director, Center for Pediatric Genomic Medicine, Children’s Mercy Hospital 

DTC Genetic Tests for Common Complex Diseases 

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

  • Are there any downsides to Direct to Consumer genetic testing?
  • Are we over promising and under delivering?
  • How does complexity in disease predisposition markers impact consumers?
  • Would DTC genetic tests lead to overburdening the health care system, overuse of screening and probing? Could this lead to more problems than benefit?
  • Is there too many privacy concerns keeping us from using this wealth of data?
  • Ethical concerns: In case of identical twins, would one need the informed consent from brother?

Advances in Non Invasive Genetic Testing 

Moderator: Charles Cantor, Ph.D., CSO, Sequenom, Inc. 

  • Should diagnostic sequencing report all mutations detected or just those where the resulting phenotype is reasonably understood?
  • Is there value in reporting disease associations with small odds ratios if no established integrative risk model exists?
  • Should clinical diagnostic sequencing be limited to clinically actionable diagnostic results?
  • Is there a path forward to mirror, in more complex phenotypes, the tremendous strides that have been made in personalized pharmacogenetics?

6:20 Close of Day

Day 1 | Day 2 | Day 3 | Download Brochure