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Pre-Conference Short Courses*  

Tuesday, September 24, 2013


Join your colleagues for more in-depth, focused learning at an informational and interactive Short Course. Choose one of the Short Courses below for three hours of instruction and discussion in a small group setting. Get your questions answered, network with colleagues, and share ideas.


Afternoon Courses | 1:30 – 4:30 pm

Short Course 1: Data Analysis/Management 

Shawn C. Baker, Ph.D., CSO, BlueSEQ

Caleb J Kennedy, Ph.D., Lead Scientist, Good Start Genetics, Inc.
Vasisht Tadigotla, Ph.D., Bioinformatics Scientist, Courtagen Life Sciences, Inc.

For genetics to become truly consumer-oriented, individuals with different levels of domain expertise and personal motivation must inform their own healthcare decisions. While answers are abundant, thanks to low-cost, highly scalable resources such as next generation DNA sequencing, it is often difficult for experts and non-experts alike to ask the right questions. Cognitive and technical intricacies present challenges, but they also offer solutions. In this course you will explore genetic data science, an emergent discipline that seeks to deliver better answers (the data) so that patients and their healthcare providers can ask more meaningful questions (the science). Interactive discussion groups will also be included. Delve deeper into some of the concepts discussed and learn how to apply them within your organization. Topics include:
-Specific methods for accessing more human genetic variation with short sequencing reads.
-Turning high-volume, low-value DNA sequence data into clinically actionable results by combining multiple open source tools into commercial grade software; complexities of even simple diseases.
-Multi-sample models, which leverage data redundancy to reduce storage complexity and cost.
-Semantic parsers for standard data specifications, which limit software verification risk, provide critical error checking, automate validation, and facilitate human consumption of voluminous genetic information.
-Use of enterprise-ready relational databases to enable operational (clinical) query as well as non-relational databases, which are better suited for general (scientific) inquiry.
-Cloud computing as a means to reduce information technology requirements, focus instead on clinical application and ensure that cost reductions for data analysis keep pace with those observed for data acquisition.
-Rapid technological disruption and convergence will continue to drive broader accessibility to genetic information although nobody can predict exactly how.

-Next-gen sequencing and driving the transition from genetics to genomics  


Short Course 2: Clinical Translation of Genetic Advances  

Elicia Estrella, MS, CGC, LGC, Genetic Counselor and Study Coordinator, Program in Genomics/Harvard Neuromuscular Disease Project, Children’s Hospital, Boston

Amanda Gammon, MS, CGC, Licensed Genetic Counselor, Huntsman Cancer Institute, University of Utah                          

Wendy Kohlmann, MS, CGC, Licensed Genetic Counselor, Huntsman Cancer Institute, University of Utah

Ellen T. Matloff, MS, Research Scientist, Department of Genetics and Director, Cancer Genetic Counseling, Yale Cancer Center   

Tina Pesaran, MA, MS, CGC, Certified Genetic Counselor, Ambry Genetics  

Erica Ramos, MS, CGC, Clinical Genomics Specialist, Illumina, Inc.  

Tricia See, ScM, CGC, Genetic Counselor, Informed Medical Decisions          

New genetic testing technologies (SNP risk allele testing, gene panels, whole exome/genome sequencing) are altering the face of clinical genetics care. We will explore new research looking at what patients want from genetic testing and how clinicians are incorporating new genetic testing technologies into medical management and behavioral counseling. Topics to cover include: behavioral research on patient responses to genetic test results; cases and discussion of clinical utilization of DTC and next gen sequencing results (cancer, pediatric, prenatal, and DTC examples), and DTC and next generation sequencing - expanding roles for genetic counselors.    


Genetic Counselor CEUs: This event has been submitted to the National Society of Genetic Counselors (NSGC) for approval of Category 1 CEUs. The American Board of Genetic Counseling (ABGC) accepts CEUs approved by NSGC for purposes of recertification. Approval for the requested CEUs and Contact Hours is currently pending. 








Dinner Courses | 5:00 – 8:00 pm

Short Course 4: NGS for Clinical Testing 

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

Birgit Funke, Ph.D., FACMG, Assistant Molecular Pathologist and Director, Clinical Research and Development, Laboratory for Molecular Medicine, Massachusetts General Hospital; Assistant Professor in Pathology, Harvard Medical School

The higher throughput and lowered costs of NGS sequencing are some of the reason for its rapid adoption in clinical testing despite many other features of high complexities such as the acquisition of voluminous data and downstream computational challenges. These complexities necessitate the lab to consider specific operational changes and the introduction of regulatory standards that are specific for NGS. This session will discuss the nuts and bolts of NGS-based test validation, ethical issues surrounding reporting and interpretation of novel variants, and regulatory consideration.  

*Separate Registration Required for Short Courses


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Preliminary Agenda 2013