2013 Archived Content
Fourth Annual

Personalized Diagnostics

Getting Ready for Clinical Use


Day 1 | Day 2 | Day 3 

Thursday, February 14

7:00 am Breakfast Presentation (Sponsorship Opportunity Available) or Morning Coffee


8:00 - 9:40 Plenary Keynote Panel: Emerging Technologies & Industry Perspectives
This session features a series of presentations on emerging and hot technologies in diagnostics, drug discovery & development, informatics, and oncology. Interactive Q&A discussion with the audience will be included. - Read more 

Sponsored by


Biocartis  Elsevier  Luminex  RemedyMD  Scientia Advisors  Singulex 

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


Real Data and Practical Challenges
in Implementing NGS

10:40 Chairperson’s Remarks

German Pihan, M.D., Director, Hematopathology Lab, Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School

10:45 Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing

Marcin Imielinski, M.D., Ph.D., Pathology, Brigham and Women’s Hospital; Meyerson Lab, Broad Institute and Dana Farber Cancer Institute

11:15 Fundamental Insight: The Biology and Targeting of Cancer through the Lens of Exome Sequencing

German Pihan, M.D., Director, Hematopathology Lab, Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School

11:45 Translation of the Cancer Genome

Lynda Chin, M.D., Professor & Chair, Department of Genomic Medicine; Scientific Director, Institute for Applied Cancer Science;
M.G. & Lillie A. Johnson Chair for Cancer Treatment and Research, University of Texas MD Anderson Cancer Center


YarcData12:15 pm Luncheon Presentation I: Using Advanced Analytics in Systems Biology to Discover Unknown Relationships and Non-Obvious PatternsDavid Anstey, Global Head, Life Sciences, YarcData
co-authored by: Amar Shan, Director, Product Marketing, YarcData
A case study of a major cancer research organization will demonstrate how by using structured and unstructured data YarcData can deliver solutions to advance research in critical disease areas or rapidly determine possible treatment options for individual patients.

12:45 Luncheon Presentation II (Sponsorship Opportunity Available) or Lunch on Your Own 

1:15 Refreshment Break in the Exhibit Hall with Poster Viewing

1:40 Chairperson’s Remarks

German Pihan, M.D., Director, Hematopathology Lab, Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School

1:45 Computational Programs and Algorithms (Software) for Exome Sequence Analysis

Gaddy Getz, Ph.D., Director, Cancer Genome Computational Analysis, Broad Institute

2:15 Advances in Application of Next-Generation Sequencing to Cancer Diagnostics

Shashikant Kulkarni, M.S. (Medicine), Ph.D., FACMG, Head, Clinical Genomics; Medical Director, Cytogenomics and Molecular Pathology; Associate Professor, Pediatrics, Genetics, Pathology and Immunology, Washington University School of Medicine

Molecular testing is becoming standard-of-care for cancers because certain mutations provide information about prognosis and treatment. Current methods for mutation detection are only capable of interrogating selected regions of individual genes, which is inefficient and cost prohibitive when testing multiple genes is clinically indicated. The challenges that are specific to clinical adaptation of NGS in cancer diagnostics will be discussed. Specific topics include, the importance of tumor enrichment, need for ultra-deep sequence coverage and clinical validation.

2:45 Recent Insights from Next-Generation Sequencing (NGS) of Advanced Prostate Cancer

Akash Kumar, B.Chem.E, M.S., M.D./Ph.D. Candidate, Genome Sciences, University of Washington

This talk will discuss the results of a recent exome sequencing survey of lethal prostate cancers. I also intend to discuss some potential challenges associated with the introduction of NGS into oncology, including standardization of library preparation and intra-patient genomic heterogeneity.

Feeney Law Group3:15 What Everyone Working in the Life Sciences Needs to Know About AIA and the Recent SCOTUS/Federal Circuit DecisionsAlan F. Feeney, Esq., Owner, Feeney Law GroupThere have been several recent important developments effecting the patenting of life science discoveries. The America Invents Act and recent SCOTUS decision in validating patents directed to drug dosing have changed the standard for patenting biological discoveries. In 2013, SCOTUS will address the patentability of genes. Best patent practices, clever licensing strategies and effective prior art searches will be discussed.

Telome Health3:30 TeloTest™: A Transformative Telomere Length Assay in Personalized Medicine for Health Monitoring and Disease InterceptionCalvin B. Harley, Ph.D., CSO, Telome Health, Inc.Short telomeres at chromosome ends signal aging, loss of regenerative capacity, and increased disease and mortality risk. TeloTest™ is an accurate, high throughput, non-invasive qPCR assay to monitor telomere length in saliva, and improve health, and healthspan, by early intervention.

3:45 Valentine’s Day Celebration and Poster Competition Winner Announced in the Exhibit Hall

(Last Chance for Poster Viewing)


Case Studies in Implementation of Genomic Medicine 

4:30 Chairperson’s Remarks

Mark S. Boguski, Ph.D., Associate Professor, Center for Biomedical Informatics, Harvard Medical School

4:35 Genomics and the Personalization of Ovarian Cancer Care

David Huntsman, M.D., FRCPC, FCCMG, Medical Director, Center for Translational & Applied Genomics, British Columbia Cancer Agency

Genomics and the personalization of ovarian cancer care: The approach to ovarian cancer care is changing from generically applied platinum/taxane based regimens to a stratified approach that recognizes the biologic and clinical distinctions between the common histologically defined subtypes. Genomic studies have both added credence to the concept that these subtypes are separate diseases and provided opportunities to further personalize care based on targetable genomic features. As is the case with many cancer the potential impact of intratumoral heterogeneity on diagnostic approaches, treatment decisions and responses to therapy are being studied but are not yet defined. In addition to being used to select treatment options the mutation profiles of ovarian cancer can readily be used to develop patient specific monitoring tools.

5:05 Making a Definitive Diagnosis: Opportunities and Challenges Associated with Clinical Application of Whole Genome Sequencing

Elizabeth Worthey, Ph.D., Assistant Professor, Pediatrics & Bioinformatics Program, Human & Molecular Genetics Center, Medical College of Wisconsin

We recently completed a pilot program aimed at developing a clinically appropriate system for WGS MDx. We defined processes for case selection, education, consent, analysis, data return, and reporting. A permanent WGS based clinic is now in place. I will discuss the types of opportunities and challenges associated with each aspect of this process, and will review details from specific cases.

5:35 Case Study in Autism

Timothy W. Yu, M.D., Ph.D., Instructor in Pediatrics, Children’s Hospital Boston and Department of Neurology, Lurie Center for Autism, Mass General Hospital for Children

6:05 Sponsored Presentations (Opportunities Available)

6:35 Close of Day


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Premier Sponsors

Beckman Coulter Life Sciences 

Boston Healthcare



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Cofactor Genonics


Menarini Silicon Biosystems






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