Precision Genomic Medicine

Recent advances in high-throughput genomics such as “next-generation” DNA sequencing have revolutionized and opened the world of Precision Genomic Medicine to new possibilities. With declining cost and greatly increased speed of sequencing, the next generation of sequencers provide a highly efficient and accurate approach leading to a huge shift in accelerating the pace of whole human genome sequencing. A decade ago, it cost about $10,000 to sequence a human genome. Today it is approximately $600 and going to get cheaper and faster allowing for more frequent use of this technology.  Sequencing technology continues to improve, and the Institute for Precision Medicine remains active in its evolution within the technologically advanced healthcare ecosystem – not only in acquisition of hardware and construction of facilities but enabling researchers and clinicians’ access to use the tremendous available resources.

Precision genomics is being clinically used in many practices including preemptive and reactive pharmacogenomics, diagnosing rare and newborn illness in the NICU (Neonatal Intensive Care Units) using whole genome sequencing and sequencing tumors leading to genetically targeted drugs. The increased use of genomic technologies has led to large and diverse genomic datasets for analysis and that trend will only accelerate and boost the size of genetic datasets. While there can be no doubt about the value of such a rich and deep resource, exploring large datasets brings with it new and profound challenges. IPM continues to work with University of Pittsburgh and UPMC experts in bioinformatics, artificial intelligence, federated data systems, and machine learning to ensure that data streams are constructed and compiled in the most efficient way and integrated with clinical data for efficient translation to clinical care.