2012 ACMG Annual Clinical Genetics Meeting

Description: Genetic evaluation is now an essential element of medical care for individuals with cancer or with a family history of cancer, as management strategies are increasingly dependent upon the results of genetic tests. The exciting and emerging themes in the field of cancer genetics are the novel genetic and genomic mechanisms of diseases, use of next generation sequencing to identify inherited or somatic mutations in cancer the genetic architecture of rarer phenotypes that alter testing and management strategies, and emerging data about modifier genes and risk modeling/analysis.

Keeping abreast of important developments in cancer genetics can be daunting for the general geneticist as well as the specialist. This course follows and extends the successful 2009 ACMG workshop on the essentials of cancer genetics and is intended for medical geneticists, genetic counselors and other healthcare providers with varying levels of experience with cancer genetics. The workshop will be particularly beneficial for clinicians who would like an up-date on current approaches in clinical cancer genetics. Participants will be encouraged to participate by submitting current cases and pedigrees for discussion by the faculty panel.

After attending this course, participants will gain a deeper understanding of the new discoveries in the genetic causes of cancer, an appreciation of the differing phenotypes seen in cancer susceptibility syndromes and practical experience in the interpretation of unusual pedigrees.

Objectives: After attending this session, participants should be able to:

Define and discuss the current genetic and genomic models of cancer development, including genetic and epigenetic mechanisms, and novel therapies based on personalized genomics.
Recognize the major familial cancer syndromes associated with an increased risk for breast and colon cancer and list the current guidelines for the genetic evaluation of these kindreds.
Discuss the influence of multiple genes and modifier genes on cancer susceptibility phenotypes.
Describe phenotypic characteristics of paragangliomas and bone marrow failure phenotypes.
Improve skills in the interpretation and risk assessment of family cancer pedigrees.

Course Director:
Georgia Wiesner, MD,MS,FACMG, Case Western Reserve University

Faculty:

David Euhus, MD, UT Southwestern Medical Center

James P. Evans, MD, PhD, FACMG, University of North Carolina at Chapel Hill

Stephen B. Gruber, MD, PhD, MPH, University of Michigan

Katherine L. Nathanson, MD, FACMG, University of Pennsylvania School of Medicine

Sharon Savage, MD, National Cancer Institute

Next Generation Sequencing: Clinical Utility, Laboratory Implementation and Bioinformatics Analysis

Day: Tuesday, March 27
Time: 12:00 pm - 7:00 pm (7 hour Course)

Description: Next generation sequencing (NGS) has revolutionized genomics and is being rapidly adopted in research and clinical testing in medical genetics. In the last few years tremendous improvements have taken place in sequencing chemistries, instrumentation and bioinformatics analysis. Many clinical laboratories are now using these new technologies for targeted gene panels, for whole exome sequencing and for whole genome sequencing. The dramatic improvements in NGS technologies deliver large data sets at low cost. Sequence analysis and data interpretation, however, has become increasingly complex.

It is also necessary to understand the appropriate use of NGS in clinical diagnosis as a guide to treatment and disease prognosis. This CME course will focus on the use of NGS in clinical diagnosis, in the practical implementation of NGS in clinical laboratories, and in the analysis of large data sets using bioinformatics tools to parse and interpret data in relation to the clinical phenotype. Lastly, models for effective communication of these complex results to healthcare providers, patients and families will also presented.

After attending this course, participants will understand how to utilize NGS in the clinic, how to implement NGS in a clinical laboratory, and how to carry out bioinformatics analysis and interpretation of NGS sequence data.

Objectives: After attending this session, participants should be able to:

Review NGS technologies including different types of chemistries, assay limitations and practical applications to clinical diagnostics.
Identify requirements for laboratory infrastructure, assay validation, implementation, data analysis and interpretation using bioinformatics tools.
Identify necessary components for test validation and proper controls for NGS testing.
Discuss clinical indications for NGS testing including the use of confirmatory testing, functional analysis of variants and delivery of results to clinicians.

Course Director:
Madhuri Hegde, PhD., FACMG, Emory University

Faculty:
Birgit Funke PhD, FACMG, Laboratory for Molecular Medicine at PCPGM Harvard Medical School

David Dimmock, MBBS, MS, Children’s Hospital of Wisconsin; Medical College of Wisconsin

David Bick, MD, FACMG, Medical College of Wisconsin

Shashikant Kulkarni, PhD, FACMG, Washington University School of Medicine

Regan Veith, MS, CGC, Children’s Hospital of Wisconsin