CHI Calls Convention of Inherited Disease Diagnostics Teams to Share Cases & Strategies

Discussions will be focused on the discovery, detection and treatment of genetic diseases with next generation sequencing
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Genomic Data
Gene Testing


Needham - Massachusetts - US


NEEDHAM, Mass. - June 16, 2014 - PRLog -- Cambridge Healthtech Institute is pleased to launch its first Inherited Disease Diagnostics Conference, to be held August 19-20, 2014 in Washington, DC, as a response to the increasing opportunities for advancing clinical diagnostics of rare and single-gene Mendelian disorders with next-generation sequencing. The event will bring together a faculty of multidisciplinary researchers to navigate the present challenges in the field, including issues of variant annotation, data interpretation, and incidental findings.

Through presentations, roundtable discussions and networking, attendees of this meeting will compare the pros and cons of single-gene tests and whole genome, whole exome sequencing and examine techniques for identifying a variant as pathological. In addition to strategies for interpreting clinical data and creating a genomic profile, ethical considerations around incidental findings and prenatal screening will be debated. Experts will also weigh in on implementing genetic screening into routine clinical practice. The faculty is comprised of researchers at the center of advancements in genetic testing from Duke University, Medical College of Wisconsin, Children's Hospital of Philadeliphia, Children's Mercy Hospital, Partner's Canter for Personalized Genetic Medicine and UCLA School of Medicine.

The Inherited Disease Diagnostics Meeting will take place at the 2014 Next Generation Dx Summit, alongside a collection of eleven courses and ten conference programs covering the areas of point-of-care; cancer biomarkers; companion diagnostics strategy, partnerships, technologies and reimbursement; genetic and infectious diseases; cell-free DNA; single-cell sequencing; clinical NGS assays; and the commercialization of molecular diagnostics. In addition to focused conference tracks, the event includes a set of plenary presentations: A regulatory review of clinical sequencing assays will be provided by Harry Glorikian and guest speaker Jennifer Dickey of the FDA Division of Immunology and Hematology Devices, and case reports of NGS clinical utility and reimbursement will be discussed.

Full program details can be found at

For a preview of the event, researchers are invited to listen to faculty-recorded podcasts at

About Cambridge Healthtech Institute
Cambridge Healthtech Institute (CHI), founded in 1992, is the industry leader in providing superior-quality scientific information to eminent researchers and business experts from top pharmaceutical, biotech, and academic organizations.  Delivering an assortment of resources such as events, reports, publications and eNewsletters, CHI's portfolio of products include Cambridge Healthtech Institute Conferences, Barnett Educational Services, Insight Pharma Reports, Cambridge Marketing Consultants, Cambridge Meeting Planners, and Cambridge Healthtech Media Group.


Jaime Hodges
Cambridge Healthtech Institute
(781) 972-5400
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Tags:Genetics, Diagnostics, Sequencing, Genomic Data, Gene Testing
Industry:Biotech, Health
Location:Needham - Massachusetts - United States
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Page Updated Last on: Jun 16, 2014
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