Countdown to ACMG 2015!


If you’ll be heading to Salt Lake City next week, we hope to see you there! The QIAGEN Bioinformatics team is gearing up for the ACMG Annual Clinical Genetics Meeting to be held March 24-28 at the Salt Palace Convention Center. This is one of the best clinical meetings we attend each year, and we can’t wait to see what’s in store this year.

The organization that hosts the event, the American College of Medical Genetics and Genomics, got attention recently with its revamped guidelines for reporting incidental findings. We’re grateful that a group as reputable as ACMG has waded into this area — as next-gen sequencing becomes more commonplace in the clinic, incidental findings are a growing challenge for physicians and clinical geneticists.

There are a number of sessions we’re particularly looking forward to at this event. The presidential plenary session will include a presentation from ACMG President Gail Herman as well as talks from Kevin Flanigan and Dan MacArthur, all focused on recent advances in clinical genomics. Another session will focus on genotype-phenotype correlations, with some speakers talking about the importance of understanding allele penetrance. The topic is really important to us as co-founders of the Allele Frequency Community, which aims to provide broader access to this kind of data. Two sessions on using NGS data for diagnostic purposes look really interesting: one hosted by Deanna Church, Heidi Rehm, and Robert Nussbaum on improving diagnostic yield with exome sequencing, and another focused on metabolic disease that includes a talk from NIH’s Bill Gahl about the Undiagnosed Disease Program. Finally, we’re delighted to see big data on the agenda this year, representing a critical trend as clinical labs learn new methods to interpret the huge amounts of data being generated by NGS technologies.

Our team has a number of tools to help this audience make sense of their data. You can learn more about Ingenuity Variant Analysis, particularly handy for solving diagnostic odysseys, from our users: check out abstract 230 (Devaney et al.) and 570 (Wang et al.) to see how these teams implemented the application. We’ll also be in the exhibit hall — booth #614 — if you want to learn more about the Allele Frequency Community, HGMD, or our newest application, the Ingenuity Clinical Decision Support platform.