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Bio-IT World and Cambridge Healthtech Institute’s Inaugural

Clinical Exome Sequencing
Changing the Nature of Genetic Diagnosis
4-5 December 2013 | Sheraton Lisbon Hotel & Spa | Lisbon, Portugal

Exome sequencing (or targeted exome capture) is an efficient, cost-effective strategy to selectively sequence the coding regions of the genome. This developing approach to sequencing the complete coding region (exome) is becoming clinically relevant in genetic diagnosis, and will be compared and contrasted with whole-genome sequencing and targeted next-generation sequencing. The goal of implementing genetic variants as part of the treatment pathway will be reviewed, and remaining challenges will be examined.

Day 1 | Day 2 | Download Brochure | Biographies 

Recommended Pre-Conference Symposia*

Clinical Epigenetics
Quantitative Digital Detection Technologies 

*Separate Registration Required


07:30 Registration and Morning Coffee


08:30 Chairperson’s Opening Remarks

Hans-Hilger Ropers, M. D., Ph.D., Board Certified Clinical Geneticist, Professor of Human Genetics, Humboldt University and Director, Max Planck Institute for Molecular Genetics, Berlin, Germany


08:40 New Sequencing Techniques: Why They are Indispensable for Health Care, and What We Can Do to Speed Up Their Clinical Implementation

Hilger RopersHans-Hilger Ropers, M. D., Ph.D., Board Certified Clinical Geneticist, Professor of Human Genetics, Humboldt University and Director, Max Planck Institute for Molecular Genetics, Berlin, Germany

While there is no doubt that the new sequencing techniques will revolutionize genetic diagnosis and health care, their clinical implementation still lags behind. Major reasons for this delay are i. public unawareness of the opportunities of genome sequencing; ii. misconceptions about its dangers, which are related to the failed ‘common disease-common variant’ paradigm; iii. budgetary concerns and in many countries, iv. suboptimal organization of genetic health care which requires a minimum of centralization. However, none of these obstacles are unsurmountable.

09:10 External Quality Assessment for NGS

David E. BartonDavid E. Barton, Ph.D., Chief Scientist, National Centre for Medical Genetics, Our Lady’s Children’s Hospital, Crumlin, Ireland, United Kingdom

The European Molecular Genetics Quality Network (EMQN) provides external quality assessment to genetic testing laboratories world-wide. Experience shows that the introduction of new technologies into clinical diagnostics carries risks. Thorough validation and quality assessment are essential. EMQN, in collaboration with UK NEQAS, ran a pilot EQA for Next-Gen DNA sequencing in 2013. Results of this pilot study will be reported.

09:40 Replacing Established Molecular Genetic Testing Methods with Next-Generation Sequencing (Enrichment) Technologies; Opportunities and Challenges of Panel-Based, Exome and Genome NGS in Clinical Diagnostics

Jan D. H. JongbloedJan D. H. Jongbloed, Ph.D., Department of Genetics, Genome Diagnostics Section, University of Groningen, University Medical Centre Groningen, The Netherlands

We recently demonstrated that the quality of targeted NGS of a disease-specific subset of genes is equal to Sanger Sequencing and can be reliably implemented as a diagnostic test. However, although currently not fully developed for this, exome or genome sequencing would be the more preferred techniques for genetic testing as these methods will guarantee maximized mutation detection. Using inherited cardiomyopathies as the disease model, the pros and cons of applying gene panel-based, exome or genome sequencing in clinical diagnostics will be discussed.

10:10 Coffee Break in the Exhibit Hall with Poster Viewing



10:40 Chairperson’s Remarks

Gholson J. Lyon, M.D., Ph.D., Assistant Professor, Human Genetics, Cold Spring Harbor Laboratory and Research Scientist, Utah Foundation for Biomedical Research, United States

10:45 Comparing Exome vs. Genome Sequencing for Genetic Component of Diseases

Han G. BrunnerHan G. Brunner, Ph.D., Medical Geneticist, Radboud University Nijmegen Medical Centre, The Netherlands

Given that a considerable proportion of rare diseases are based in genetics, patients with complex clinical presentation may soon be included in a program for undiagnosed diseases where the first step is exome sequencing. Such a strategy would provide many accurate diagnoses, thereby reducing doctor’s delay, unnecessary invasive, costly and burdensome procedures.

11:15 Comparing Clinical v. Whole Exome Sequencing for Monogenic Diseases and Undiagnosed Patients

Pascal JosetPascal Joset, Ph.D., Research Associate, Institute of Medical Genetics, University of Zurich, Switzerland

The advent of NGS techniques is paving the way for novel large scale approaches with an unforeseen diagnostic power. While whole exome sequencing may provide theoretically the highest cost-efficient power, it may miss mutations due to incomplete coverage. We therefore evaluated the power of a “clinical exome” limited to about 2700 genes with currently known monogenic mutations.

11:45 Sponsored Presentation (Sponsorship Opportunity Available)

12:15 Luncheon Presentation (Sponsorship Opportunity Available) or Lunch on Your Own

13:15 Session Break

14:05 Increasing Accuracy for Exome and Whole Genome Sequencing

Gholson J. LyonGholson J. Lyon, M.D., Ph.D., Assistant Professor, Human Genetics, Cold Spring Harbor Laboratory and Research Scientist, Utah Foundation for Biomedical Research, United States

Our recent results suggest that more caution should be exercised in genomic medicine settings when analyzing individual exomes and genomes, including interpreting positive and negative findings with scrutiny, especially for indels. We advocate for renewed collection and sequencing of multi-generational families to increase the overall accuracy of whole genomes.

14:35 Changing the Clinical Genetic Testing Paradigm: Reducing Cost and Increasing Utility

Steve LincolnSteve Lincoln, Senior Vice President, Scientific Applications, InVitae, United States



15:05 Experiences from our Integrated Genomics Clinic; Rapid Identification and Clinical Reporting of Causative Mutations through WGS and WES

Elizabeth WortheyElizabeth Worthey, Ph.D., Human and Molecular Genetics Center, The Medical College of Wisconsin, United States

MCW’s Genomic Medicine Clinic has been operational for more than 18 months. As the first genomics based integrated genetics clinic of its kind its development required definition of appropriate: patient counseling, analysis, interpretation, and reporting. I will discuss how to incorporate genomic data to support diagnosis with a particular focus on the informatics as well as providing discussion of the discoveries, challenges and lessons learned applying NGS in the clinic.

15:35 Sponsored Presentation (Sponsorship Opportunity Available)

16:05 Refreshment Break in the Exhibit Hall with Poster Viewing

16:45 Exome Sequencing in Complex Disease: Data Quality and Clinical Heterogeneity

Sarah EnnisSarah Ennis, Ph.D., Associate Professor, Head, Genomic Informatics, Genomic Informatics, University of Southampton Human Genetics & Genomic Medicine, United Kingdom

This talk will present key aspects in the exome analysis of a cohort of paediatric patients diagnosed with severe inflammatory bowel disease. The talk will outline some key issues with regard to data management and quality and go on to present approaches to pathway analysis in complex disease and present key findings that underpin disease in individual patients.

17:15 Panel Discussion with Day’s Speakers

17:45 Welcome Reception in the Exhibit Hall with Poster Viewing

19:15 Close of Day

Day 1 | Day 2 | Download Brochure | Biographies  

Final Agenda 

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Clinical Exome Sequencing 



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Pre-Conference Symposia:

Clinical Epigenetics 

Digital Detection 

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