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

PMWC 2016 Silicon Valley: Scalable Clinical Data Interpretation The Biggest Bottleneck

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This year’s Personalized Medicine World Conference (PMWC 2016 Silicon Valley) was comprised of many exciting sessions and presentations in the area of next-generation sequencing, different diagnostics applications, precision medicine, big data analysis, the microbiome, large cohort studies, biobanking, and data interpretation/knowledge extraction. In addition to providing a great set of overview talks on latest developments and achievements across the health care sector, in pharma, and related to regulatory aspects, this latest rendition of PMWC also featured great government presence with Kathy Hudson (Deputy Director for Science, Outreach, and Policy, NIH) and Elizabeth Baca (Health Advisor to Governor Brown’s Office of Planning and Research) sharing respective updates on Continue reading