Over 80% of rare diseases may be genetic in origin, and have a significant impact on our healthcare system.  Children with rare disease often have a long diagnostic journey, taking over 7 years to reach a diagnosis through 8 different physicians and nearly $20,000 invested in the wrong genetic tests. Whole-genome sequencing (WGS) is a comprehensive method for analyzing entire genomes, and rapidly dropping sequencing costs means that clinicians can now cost-effectively use this one comprehensive test to get a critically infant diagnosed and out of the NICU quicker, or end the pediatric rare disease odyssey much sooner, avoiding unnecessary tests and interventions. Join this webinar to learn what WGS is and is not, how it impacts patients, the value for clinicians in optimizing patient care, and learn how to access and use a peer-reviewed economic value model.

Featured Speakers

Austin Larson

Assistant Professor
University of Colorado School of Medicine

Dr. Larson is an Assistant Professor at the University of Colorado School of Medicine in the Department of Pediatrics. He practices at Children’s Hospital Colorado and focuses on mitochondrial diseases, ocular genetics, implementation of broad genetic testing in clinical practice, medical informatics and clinical trials for rare diseases. He also has clinics in western Colorado and uses telemedicine as outreach for rural patients. He is the program director of the medical genetics residency program.

Danny Miller

MEPAN Foundation

Danny is the father of two boys with MEPAN Syndrome – a rare neurodegenerative mitochondrial disease caused by mutations in the MECR gene. Since 2012 he has immersed himself in genetics and rare disease research in an effort to help his sons. They were diagnosed with MEPAN in 2018 via whole genome sequencing through the National Institute of Health’s Undiagnosed Diseases Network. With no proven treatments available, Danny established the MEPAN Foundation to broaden the knowledge and understanding of the condition and fund research to help MEPAN patients and others suffering from similar rare disorders.

Danny has nearly 20 years of experience in marketing and communications, and now works as a consultant helping rare disease companies with patient advocacy communications, clinical trial recruitment and disease education. His background has also helped him create awareness for his son’s condition, and the story of his family’s diagnostic odyssey has appeared in news outlets such as NPR, Stanford Magazine, and CBS Morning News. Danny serves on Global Genes’ RARE Foundation Alliance Leadership Council, and has a B.A. in history from the University of Florida.

Brock Schroeder

Senior Director of Market Access Strategy & HEOR

Brock Schroeder is Senior Director of Market Access Strategy & HEOR at Illumina, where he leads efforts to generate evidence of clinical and economic utility of current and emerging clinical applications of next generation sequencing (NGS) to support health technology assessment (HTA), payer coverage, and patient access to clinical genomic tools. Brock’s industry experience includes multiple therapeutic areas, including oncology, rare diseases, and reproductive health. Brock has authored 25 peer-reviewed manuscripts and >50 scientific congress abstracts. He received his BA in Biology from Washington University, and his PhD in Neuroscience from University of Wisconsin-Madison.

Date:  Thursday, September 24, 2020
Time:  2pm ET / 11am PT
Duration:  1 Hour

Register now for this webinar