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Is the use of genomic information in the clinic improving patient outcomes? The ability to sequence individual genomes has the potential to transform medicine and offer immense benefits to patients, clinicians, and researchers. The Inaugural Genomics in Medicine symposium will showcase quantifiable data on the benefits of genome sequencing in individual patients in the areas of genomic profiling, rare disease diagnostics, and predictive and preventative medicine.  Adoption hurdles such as clinical utility, cost economics and regulatory oversight will be discussed. This symposium will focus on practical considerations for widespread implementation and solutions for continued advancement in personal genomics.

Here are just some of the leading organizations that are attending Genomics in Medicine. Should your company be on this list? 

23andMe Abbott Molecular About dot com AdvaMedDx Affymetrix Agensys Agilent Technologies Inc. American Genomics American Society for Microbiology Arpeggi Inc. Astellas Pharma Europe BV AstraZeneca Pharmaceuticals Inc Asuragen Bayer HealthCare AG Baylor College of Medicine BD Beckman Coulter Genomics Inc. Biocartis NV BioReliance Corp. Boehringer Ingelheim Pharma GmbH Bonei Olam Brigham & Womens Hospital Bright Computing Inc. Broad Institute Canon US Life Sciences Canterbury District Heath Board Catholic Health Initiatives Celgene Corp. Childrens Cancer Institute Australia Childrens Hospital Boston Childrens Hospital of Philadelphia Cincinnati Childrens Hospital Medical Center     Cleveland Clinic Foundation ClinicalRM College of American Pathologists Conemaugh Memorial Medical Center Cypher Genomics Daiichi Sankyo Co. Ltd. Eli Lilly & Co. Elsevier Emory University Foundation Medicine Inc. Genentech Genomatix Software GmbH Genomic Health Inc. GlaxoSmithKline Good Samaritan Hospital Handok Pharmaceuticals IGNYTA Illumina

Illumina Cambridge IMS Govt Solutions Incyte Corp. Ingenuity Systems Inc. Institute of Biochemistry IPSEN Pharma Johns Hopkins University Karolinska Institute LABCORP Launchpad Venture Group Life Technologies Lockheed Martin Massachusetts General Hospital MDxHealth Inc. Medical College of Wisconsin Medical Prognosis Institute AS MedImmune Merck KGaA National Jewish Health Natural Molecular Testing Corp. Nature Publishing San Francisco New England BioLabs Inc. NIH NCI Onyx Pharmaceuticals Parthys Reverse Informatics Pathology Associates Medical Labs PAML Philips Research Roche Diagnostics Roche Molecular Systems Samsung Medical Center Sanford Burnham Medical Research Institute sanofi aventis Semmelweis University SEQUENOM Shire Human Genetic Therapies Shizuoka Cancer Center St. Johns Health System SurModics Inc. Techonomy TGen Translational Genomics Research Institute     University Autonoma Baja California Mexico University of Alabama Birmingham University of California San Francisco University of Minnesota Twin Cities University of Rostock University of Washington Vanderbilt University Ventac Partners World Anti-Doping Agency Yuma Regional Medical Center

 

Monday, February 11

7:30 am Registration and Morning Coffee

8:25 Chairperson’s Opening Remarks

 

Screening for Rare and Difficult to Diagnose Diseases 

8:30 KEYNOTE PRESENTATION: Genomically-Supported Diagnostic and Drug Reposition Strategies out of Academia

Hakon Hakonarson, M.D., Ph.D., Director, Center for Applied Genomics, Children’s Hospital of Philadelphia

This talk will discuss genomic strategies applied in academia to identify subsets of patients who, based on their genetic make-up, are predicted to have a favorable response profile to drugs that come from reposition opportunities. A few different diseases at various developmental stages will be presented as representative examples together with their accompanying diagnostics.

9:00 Evolving Approaches to Mutation Detection in Rare Diseases

Tom Scholl, Vice President, Research & Development, Integrated Genetics, LabCorp

The detection of genetic mutations is an essential to the diagnosis of many diseases with additional established clinical utility in determining carrier status. Emerging trends in this field that include the expansion of content in clinical tests to include many loci and increased clinical sensitivity by expanding numbers mutations detected or whole gene sequencing will be presented.

9:30 From Raw Sequencing Data to Functional Interpretation

Daniel MacArthur, Ph.D., Group Leader, Analytic and Translational Genetics Unit, Massachusetts General Hospital

Recent advances in DNA sequencing technology have enabled the generation of massive volumes of data on human genetic variation, but our ability to translate these data into clinically useful information remains immature. Here I discuss the key lessons learned from large-scale sequencing studies in both common and rare diseases with a particular focus on finding mutations underlying severe muscle diseases.

10:00 Coffee Break with Exhibit and Poster Viewing

10:30 Providing Whole Genome Sequencing in the Clinic

David Dimmock, M.D., Assistant Professor, Pediatrics, Medical College of Wisconsin

This presentation will focus on advances in the implementation of genome wide sequencing in clinical practice.
It will address counseling and consent issues specific to testing children. Specifically it will highlight the challenges of execution in the acute care setting. The talk will discuss WGS analysis and a suggested framework for defining disease causing mutations for both the primary test indication and secondary results. We will also outline our successful deployment of rapid WGS (2 weeks from blood draw to results) in to the ICU setting.

11:00 Clinical Utility of Whole Exome Sequencing

Christine M. Eng, M.D., Professor, Department of Molecular and Human Genetics, Baylor College of Medicine

This presentation will discuss the role of whole exome sequencing in the diagnostic evaluation of patients with challenging phenotypes of genetic etiology.  Examples of clinical utility, directed medical care, and cost-effectiveness of the whole exome approach to clinical diagnostics will be presented. 

11:30 A Neuronal Carnitine Deficiency Hypothesis for Autism

Arthur L. Beaudet, M.D., Henry and Emma Meyer Professor and Chair, Department of Molecular and Human Genetics, Baylor College of Medicine

We have published a paper entitled “A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism” (PMID: 22566635).  This disorder is present in ~1 in 350 healthy adult males.  We propose a neuronal carnitine deficiency hypothesis as one risk factor or cause for autism whereby 10-20 percent of autism might be preventable. 

12:00 pm Luncheon Presentation (Sponsorship Opportunity Available) or Lunch on Your Own

 

Predictive Tests for Improved Patient Outcomes 

1:25 Chairperson’s Remarks

Christine M. Eng, M.D., Professor, Department of Molecular and Human Genetics, Baylor College of Medicine

1:30 Implementation of Personalized Healthcare into Clinical Practice: Lessons Learned

Kathryn Teng, M.D., FACP, Director, Center for Personalized Healthcare, Cleveland Clinic

Integrating a pharmacogenetics program into clinical practice requires a vision for the future of healthcare and a roadmap to reach that vision.  Our vision is to improve the value of healthcare delivery with personalized care.  Pioneering the road to achieving this vision has brought to light challenges and has allowed for the creation of solutions that might be applied universally.

2:00 Molecular Profiling of Tumors to Select Therapy in Patients with Advanced Refractory Tumors

Ramesh Ramanathan, M.D., Medical Director, The Virginia G. Piper Cancer Center Clinical Trials

This presentation will discuss molecular profiling of tumors using IHC, CGH and whole genome/exome sequencing of tumors to find actionable targets for therapy. Clinical trials and case reports of patients treated by this approach will be presented.

2:30 Sponsored Presentations (Opportunities Available)

3:00 Refreshment Break with Exhibit and Poster Viewing

3:30 Gene Panels vs. Whole Exome Sequencing in Cancer Molecular Testing

Madhuri Hegde, Ph.D., FACMG, Associate Professor, Senior Director, Emory Genetics Laboratory, Department of Human Genetics, Emory University School of Medicine

4:00 Next Generation Sequencing and Cancer Diagnostics

Phil Stephens, Ph.D., Vice President, Cancer Genomics, Foundation Medicine

Characterization of genomic changes that drive an individual patient’s disease informs rationally targeted therapies and treatment planning for patients with cancer and often expands treatment options. Foundation Medicine has developed FoundationOne™, a CLIA-certified, comprehensive cancer genomic test that analyzes routine clinical specimens for somatic alterations in 189 relevant cancer genes. Experience with the initial 1,000 consecutive patients will be presented.

4:30 KEYNOTE PRESENTATION: Clinical Cancer Genotyping – Snapshot

John Iafrate, M.D., Ph.D., Assistant Professor, Pathology, Harvard Medical School; Assistant Pathologist, Massachusetts General Hospital

The challenges and opportunities of implementing a broad genotyping assay in routine clinical management of cancer patients will be discussed. Snapshot was launched over 3 years ago at the Massachusetts General Hospital, with the goal of providing all cancer patients with a genetic fingerprint to guide therapeutic decisions. Lessons learned will be outlined, and a roadmap to effectively move testing forward into the Next Gen sequencing era.

5:00 Breakout Discussions

Finding Answers in Sequence Data

Moderator: Mark A. DePristo, Ph.D., Associate Director, Medical and Population Genetics Analysis, Broad Institute of MIT and Harvard

Characterizing Genomic Changes in Cancer

Moderator: Phil Stephens, Ph.D., Vice President, Cancer Genomics, Foundation Medicine

Implementing Clinical Genome Sequencing

Moderator: Darrell Dinwiddie, Ph.D., Director, Lab Operations, Center for Pediatric Genomic Medicine, Children’s Mercy Hospitals and Clinics

6:00 Close of Day

Featuring Our Corporate Support Sponsor: 

 

 

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