ACMG 2018 – “There is Still So Much We Have to Learn”

This year’s ACMG conference in Charlotte, North Carolina, included a very well received first installment of TED-style talks which reflected on the evolution and impact of healthcare. All three talks delivered by Kaylene Ready (Director of Inherited Cancer and a Genetics Counselor, Counsyl), Christian Schaaf (Professor Clinical Genomics, University of Cologne), and Wendy Chung (Associate Professor of Pediatrics, Columbia University Irving Medical Center) were inspirational, and were considered a great addition to ACMG 2018. Takeaways and key messages included: “treat every patient like patient No. 1, always keeping them at the center of the work, and us working as mediators rather than as a barrier”. Image credit: @DeniseCalvert13

Some statistical numbers were eye-opening and challenging as it comes as no surprise that the community currently lacks genetic counselors (GCs), with fewer than 4,000 GCs and 2,000s medical geneticists in the US which translates to one geneticist per ~60,000 people. With new genetic tests generated every day, GCs need to take on the role of mediators. New operational solutions were discussed to address this shortcoming, and as such Kaylene Ready proposed the exploration of chatbots as alternatives to GC service delivery. While certainly an interesting suggestion, we will have to see whether the field with its customers (i.e. patients) is ready to discuss challenging genetics findings with a computer. As a result, it was suggested to decouple Continue reading

The JP Morgan Healthcare Conference from Afar

This being an invitation-only conference, I had to follow the JP Morgan Healthcare conference from a distance. As we have witnessed in the past, exciting announcements happen here in San Francisco around or just before this annual conference and some of the news spark what eventually will become the big trends throughout the year. One could say it is a window to what is just around the corner in 2016.

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Obviously, Illumina made quite the splash with two separate announcements: (1) launch of the new company Grail – major co-investors include Bill Gates, Jeff Bezos, and others – focusing on pre-symptomatic cancer testing based on the hot liquid biopsy-based Continue reading

Looking back at AGBT 2015

This year’s meeting was in every way very much what was expected: a great set of science talks, a never ending networking event, and last but not least a product launch point. Instead of summarizing what has been written up by many other great writers and bloggers on a daily basis, here just a few highlights accompanied by the announcements that went hand-in-hand with this event. For convenience purpose, and to have it all in one place, I listed the different blog posts reflecting on AGBT 2015.AGBT_2015

A great resource of the different AGBT activities and highlights can be found in the following blog posts written by Genohub, Pacific Biosciences, Golden Helix, DeciBio bloggers, Bio-IT World, and NextGeneSeq Report. Continue reading

At ASHG 2014 genomics was everywhere, with big data and variant analysis/interpretation

AHSG Last week the annual gathering of human geneticists happened at the convention center in sunny San Diego. This year this engaging conference was dominated by genomics, and in particular the topics of big data, variant analysis and interpretation. This emphasis was clearly reflected in the scientific talks, but also in the commercial sector with many companies focusing on providing new solutions on variant analysis, reaching even into the clinical space.

Besides the scientific and commercial aspect of ASHG, which I will summarize later in this blog post, this year the conferences had a strong human side associated with it. For the first time two movies were presented – Genetics in Motion Movies – that were engaging and spot on considering recent news and announcements about the benefits and/or conflicts of knowing and understanding genetic diseases. The first movie [Twitch with Kristen Powers] explored the impact of genetic testing on a young person whose mother had Huntington’s disease. While the movie follows Kristen Powers as she undergoes testing for the disease, it also examines the basic science of the disease itself. The second movie [On Beauty with Rick Guidotti] nicely addresses the need of first recognizing the person before the disease. Rick Guidotti achieves this phenomenally by capturing the beauty of an individual person and not focusing primarily on the disease – his pictures are indeed amazing. Of special interest in this context is

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