University of Pittsburgh:
Leveraging the Power of Whole Genome Sequencing
The Institute for Precision Medicine (IPM), a joint initiative of the University of Pittsburgh and UPMC, and among the university’s highest priorities, was founded in 2013 to move research into personalized well-being and clinical care for patients in the region. Under the direction of Dr. Adrian Lee and his predecessor, Dr. Jeremy Berg, IPM has demonstrated how genetic testing can be integrated into the healthcare system to improve patient outcomes and reduce costs. For example, IPM conducted genetic testing on patients who had a myocardial infarction (heart attack) to determine which ones would respond to treatment with the most common blood thinning drug. (Because of genetics, some patients do not produce the protein needed to break down the drug.) Based on the results, which included reducing major adverse effects by 50 percent and saving $2 million, UPMC made the test part of its standard protocol for treating these patients. Building on this success and current advances in whole genome sequencing (WGS) technology, IPM, with a Foundation grant of $2.8 million, will launch three new projects in this area.
In the first project, to which $1.17 million will be devoted, IPM will seek to improve mortality rates and decrease healthcare costs by rapidly diagnosing genetic conditions in children who are born prematurely. There are more than 4,400 genetic abnormalities that account for close to 40 percent of all infant mortality. Until the recent development of WGS, timely diagnosis of many suspected genetic disorders was not possible, a delay that led to increased time in the NICU (which averages $25,000 per day) and higher mortality rates for children born with such disorders. To validate its model and work out any critical issues, IPM initially will test 20 children in the NICU before testing an additional 80 children at both Magee and Children’s hospitals. Should the project achieve its dual goals, UPMC expects to incorporate WGS into its standard protocol for all NICU patients. Additionally, UPMC will share all the project data with Magee and its MOMI database, which is central to the Foundation’s investments to reduce high rates of infant mortality in the region.
The second project, which will use $909,968 of the $2.8 million total, will enable IPM to continue to build out its Test2Learn training platform. By hiring computer science programmers who can update the learning platform and make it available as web-based content, IPM will be able to offer 140 front-line medical providers and trainees refresher training in a range of topics, including genomics, WGS technology and data analysis, report interpretation, ethics in testing, and effective communications strategies.
The balance of the grant funding—$715,000—will support IPM’s launch of a campus-wide RFP to identify research across the fields of precision medicine (e.g., diagnostics, robotics, and biomanufacturing) that is ripe for commercial translation into new products and companies. The university’s Innovation Institute will lead these efforts and support the new companies as they expand their presence in the region.