Causal Variants Front and Center at ASHG 2013

The analysis and interpretation of pathogenic variants was front and center at ASHG this year, with many talks and posters focused on findings from large-scale exome or genome studies for particular diseases. In a sign that times really are changing, there was plenty of discussion on the clinical reporting of these variants — not just one gene at a time, as many clinical labs have been doing for years, but accurately conveying the results of a gene-panel, exome, or even genome test ordered by a physician.

Our own Nathan Pearson gave a talk introducing attendees to our Empowered Genome Community, which allows people to explore their genome sequences and collaboratively interpret that data, as well as share the scientifically useful information it contains, with researchers in the field. Pearson estimated that some 300 people have had their genome fully sequenced so far, and noted in his talk that this number will grow quickly in the coming years. The talk generated quite a bit of interest; attendees lined up with questions after the presentation and came by our exhibit hall booth for more details.

We noticed a number of trends at the conference that really stood out:

  • Advances in gene expression: There have been huge strides this year on eQTLs, and the first analytic fruits of ENCODE, plus ever more precise data on gene expression itself
  • Data sharing: Lots of discussion on data sharing which is happening in very real, concrete ways
  • Continued rise of clinical discussions: It was striking how ASHG’s clinical sessions now feel like a fully mainstream part of the meeting, with much cross-attendance by folks who in past years might have just attended their own side of the clinical-vs-basic research divide.

We want to thank the many people who showed up for our workshops on IPA and Ingenuity Variant Analysis. There were lots of terrific workshops to choose from, so we’re honored to have had packed rooms for both sessions. Also, a special thanks to our partners who joined us, particularly Dr. Milan Radovich from the Indiana University School of Medicine; Dr. Tracy Brandt from the Icahn School of Medicine at Mount Sinai; and Dr. Phil Tsao from Stanford University. Their perspective was an invaluable component in our workshops.







As always, the best part about ASHG is connecting with colleagues old and new. Thanks to everyone who took the time to chat with us — we look forward to seeing you again soon!