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

enlightenbio Customer Spotlight: Lab7 Systems Product Definition, Strategy, and Positioning

Lab7 Systems Enterprise Platform Product Roadmapping and Feature Definition

In this series of “Customer Spotlight” blog posts, we profile some of our valued customer companies to give our readers a sense of what specific projects we are doing to advance their goals towards building solutions that are embraced by their customers and the scientific community.

This month we’re focusing on Lab7 Systems, a leader in developing an enterprise Lab7 logoscience platform (ESP) for the management of next-generation genome sequencing (NGS) samples, data, and workflows. Their comprehensive sample-to-answer data management software is designed for the researcher and the clinician: besides enabling sample and genomic workflow management, there is an established need to visualize and annotate identified variants with clinically relevant information, and to allow creating sharable, actionable reports achieved via a configurable Analysis Pipeline Manager. Lab7’s ESP platform is built with a vision to reduce the level of
hands-on data management by lab technicians, research scientists, bioinformaticians, and IT teams who are in many instances struggling with the massive amounts of next generation sequencing data that are being generated and processed. As such, Lab7’s Continue reading