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Archived Content

Personalized Diagnostics 

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Personalized Diagnostics Promo Video 

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Implementing clinical use of personalized diagnostics can stratify patients, give molecular classification of disease, determine the likelihood of occurrence, and recommend the best course of treatment.  These approaches promise to reduce costs in healthcare, improve treatment, and have the potential to provide consumer-driven access to health information.  Technologies will be evaluated for research and clinical use, and approaches for turning these discoveries into viable business models will be highlighted.

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

Rong Mao, M.D., FACMG, Medical Director, Molecular Genetics and Genomics, ARUP Laboratories; Assistant Professor, Pathology, University of Utah School of Medicine

11:10 Molecular Diagnosis of Mitochondrial Disorders by Next-Generation Sequencing

Rong Mao, M.D., FACMG, Medical Director, Molecular Genetics and Genomics, ARUP Laboratories; Assistant Professor, Pathology, University of Utah School of Medicine

Mitochondrial diseases are a group of disorders affecting organ systems that have high energy requirements and are dependent on aerobic metabolism. The disease is caused by mutations in the mitochondrial genome as well as more than a hundred nuclear genes. These disorders present a diagnostic challenge because of phenotype and genotype heterogeneity. Next-generation sequencing offers the possibility of maximum sequencing of the mitochondrial genome and the nuclear genes.

11:40 Diagnostic Application of Next-Generation Sequencing Using Aortopathy Panel as an Example

Pinar Bayrak-Toydemir, M.D., Ph.D., Medical Director, Molecular Genetics and Genomics, ARUP Laboratories; Assistant Professor, Pathology, University of Utah School of Medicine

This presentation will focus on the development, validation and implementation of a NGS based gene panel for aortopathies, which includes Marfan syndrome and Marfan-like syndromes. In particular, I will focus on comparison of different enrichment methods.

12:10 pm How to Translate Next-Generation Sequencing Data into Clinically Useful Information

Fuad Gwadry, Bioinformatics Consultant

One of the main challenges facing the implementation of next-generation sequencing in clinical practice is the bioinformatic data analysis. This talk will illustrate bioinformatic strategies used to identify the novel variants that may be clinically relevant.

Sponsored by 

12:40 Luncheon Presentation
Perfecting Medicine: Sequence Driven Individualized Care

Paul R. Billings, M.D., Ph.D., Chief Medical Officer, Life Technologies

"4P" medicine has been proposed. Really the goal is "1P Medicine"--"p"erfecting the diagnosis and management of illness and the maintenance of health. Rapid progress has been made in delivering reliable, accurate genomic sequencing to translational and clinical research settings. Novel protocols are making the benefits of research medicine more accessible. In this talk, I will review Life Technologies initiatives, product developments and trial results that place us in a key role in fostering truly individualized care.

1:10 Luncheon Presentation (Sponsorship Opportunity Available) or Lunch on Your Own

1:45 Dessert in the Exhibit Hall with Poster Viewing



2:15 Chairperson’s Remarks

Rakesh Sindhi, M.D., FACS, Co-Director, Pediatric Transplantation, University of Pittsburgh

2:20 Analytic and Regulatory Considerations for Cellular Biomarkers (of Disease and Therapy)

Brandon W. Higgs, Ph.D., Senior Scientist, Translational Sciences, MedImmune

This talk discusses best practices for biomarker development, and misconceptions regarding use of biomarkers to measure disease activity, treatment response, or biological processes. Topics will include hypothesis-driven versus best predictor approaches and the evaluation of robustness. Molecular and cellular examples will be presented.

2:50 Impacting Disease Mechanisms with Target Saturation

Robert M. Townsend, Ph.D., Director, Clinical Biomarkers, Bristol-Myers Squibb

Studying target saturation can provide insights into a drug’s mechanism of action and guide dose selection during clinical development. Linking the extent of receptor saturation to a complex biological effect can provide a useful surrogate tool for measuring otherwise challenging functional effects of a drug on target tissues. Flow cytometry-based studies evaluating the saturation of CD80 and CD86 by belatacept on antigen presenting cells have enhanced our understanding of this new drug’s mechanism of action and informed the dose rationale.

3:20 Cellular Assays Linking Disease with Mechanisms

Rakesh Sindhi, M.D., FACS, Co-Director, Pediatric Transplantation, University of Pittsburgh

Cellular assays localize molecular mechanisms of disease to effector cells, thus allowing a visual and measurable link to disease and severity. Clinical and drug development uses as prognostic/companion diagnostic/surrogate endpoint will be illustrated for transplantation as a prototypical immunological disease.

Sponsored by 
Sony DADC 

3:50 Enabling Smart Consumable Devices for Biosciences & IVD - Cost Drivers and Technologies

Jessica Melin, Ph.D., M.B.A., Senior Manager, Business Development & Sales North America, Sony DADC, BioSciences

Providing high quality consumable devices at application compliant cost  is critical for diagnostic platforms. Such devices increasingly demand mass manufactured polymer microstructures. This talk discusses the important interplay between device mass manufacturability, cost drivers, and detection principles.

4:05 Sponsored Presentation (Opportunity 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.

Maximizing Results Despite Small Sample Size 

Moderator: David A. Eberhard, M.D., Ph.D., Associate Professor, Comprehensive Cancer Center and Research Associate Professor, Pathology & Lab Medicine, University of North Carolina, Chapel Hill 

  • Sample quantity and quality: fit-for-purpose, tradeoffs, QC
  • Aligning sample, assay and intended result
  • Sample preparation to maximize results
  • Assay techniques/platforms that maximize results

From Data to Diagnosis: NGS in the Clinic 

Moderator: Fuad Gwadry, Bioinformatics Consultant 

  • Whole-genome sequencing
  • Case for exome sequencing
  • Genomic profiling of FFPE samples
  • Detecting genome alterations
  • Clinical utility

Adoption of WGS in the Clinic: Hurdles and Potential Solutions 

Moderator: Katherine Tynan, Business Development & Strategic Consulting, Tynan Consulting LLC 

  • Reimbursement
  • Regulatory
  • Physician education
  • Biological understanding
  • Ethics, privacy, and technology

Developments in Diagnostics Enabling Personalized Medicine

Moderator: Harald Kraushaar, Ph.D., Vice President & Head of Business Development, BioSciences, Sony DADC

  • Genomic testing: LDTs and IVD diagnostics
  • Microarrays vs. whole genome sequencing
  • Is sensitivity a driver for new diagnostics for PM?
  • Unmet needs and upcoming solutions

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

6:20 Close of Day

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