Broadcast Date: October 8, 2020
Time: 9:00 am PT, 12:00 pm ET, 18:00 CET
In 2010, a team of geneticists and bioinformaticians at Medical College Wisconsin embarked on an ambitious clinical genome sequencing project to end the diagnostic odyssey of a young boy, Nicholas Volker. That project, led by Howard Jacob and Liz Worthey, successfully identified the single-base mutation responsible for Volker’s mystery autoimmune disease, resulting in a successful medical procedure. It became one of the signature events that signaled the potential of clinical genome sequencing.
Since then, clinical genome sequencing has benefited from continued improvements in DNA sequencing accuracy and throughput and genome interpretation software. Those improvements have made whole-genome sequencing an increasingly viable approach for precision diagnosis in clinical care (compared to exome sequencing).
In this Clinical OMICs KEYNOTE webinar, we are delighted to host two true pioneers of clinical genome sequencing, bioinformatician Dr. Liz Worthey and geneticist Dr. Howard Jacob, who will reflect on a decade of progress in clinical genome analysis and discuss the future challenges confronting the field. The former colleagues will offer complementary perspectives – Worthey as Associate Director of the Hugh Kaul Precision Medicine Institute at UAB, and Jacob as VP of Genomics Research at AbbVie, developing targeted therapeutics.
Following the presentations, there was an extended live Q&A on the future of newborn screening and genomic medicine with both presenters.
Produced with support from:
Liz Worthey, PhD
Director Ctr Genomic Data Sciences
Dept Pediatrics/Pathology, UAB
Howard Jacob, PhD
VP Genomics Research &
VP Data Integration/Convergence
Distinguished Research Fellow
AbbVie, North Chicago, IL