Specifically Specialized Treatment: How Precision Medicine is Revolutionizing What’s Possible

For most of our careers as physicians, treatments for genetic-based diseases have been supportive — not curative. Medication recommendations for patients are based on the expected response of the average individual, but these practices are changing rapidly. We’re on the cusp of a revolution for two main reasons. First, the ability to understand one’s unique genetic profile through genetic sequencing has become more accessible to clinical teams. Second, there are now mechanisms for manipulating one’s genetic code to overcome diseases.  

Listen to our pediatric expert discuss precision medicine

In this episode of Charting Pediatrics, Scott Demarest, MD, shares his experience in precision medicine and what he envisions for future of personalized treatments.  

Dr. Demarest is an associate professor of Child Neurology at the University of Colorado School of Medicine and the Clinical Director of the Precision Medicine Institute at Children’s Hospital Colorado. 

In this episode, we discuss:

• An overview of precision medicine 
• Improvements in next-generation genetic sequencing 
• Hematologic conditions, including sickle cell disease 
• Current challenges in precision medicine 
• Implications of the Orphan Drug Act of 1983 
• Pharmacogenomics and drug metabolism 
• The role of ethics in newborn screening and predisposition data 
• Responsibly embracing the genomic era