Dr. Nofsinger has been helping to better understand genomics and to catalyze harnessing the power of genomic technology to advance precision healthcare for more than 20 years. Russell conducted his PhD and postdoctoral training at the University of California, San Diego and the Salk Institute. Following his scientific training, Dr. Nofsinger served in a variety of commercial roles for several genomics technology companies. During this tenure, he developed clinically focused businesses supporting proprietary test development across a wide range of indications. Through his experience creating and expanding applied markets for cutting-edge genomics technologies, Russell developed a passion for driving clinical implementation and broadening access to clinical genomics technologies.
Stephen Kingsmore, Rady Children’s Institute for Genomic Medicine
Kate Kernan, UPMC
The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice.