The calendar year may be coming to its end, but the nation’s work on precision medicine is just getting started. Spurred on by the continuing development of big data analytics techniques and pepped up by the landslide passage of the 21st Century Cures Act earlier this month, personalized medicine is set for a bright future as new studies, coalitions, and therapies enrich the research landscape.
“Partnership” is the name of the game for many healthcare stakeholders as organizations seek to bulk up their data processing power while harnessing the collective knowledge of top researchers at academic medical centers, colleges and universities, pharmaceutical companies, and government agencies.
This collaborative atmosphere is critical for the continued development of novel therapies and new approaches to difficult diseases, says FDA Commissioner Robert M. Califf, MD, and the cooperation between organizations is already bearing remarkable fruit.
Academic medical centers (AMCs) have become anchors for precision medicine research, he said in a blog post. By quickly expanding their reach across the care continuum, many are now responsible for almost all phases of care, from medical school training to research to patient-centered delivery.
“AMCs have evolved from ‘ivory tower’ teaching hospitals with associated basic research labs to multi-billion dollar enterprises that own an array of entities in a common corporate structure,” Califf explained.
“These AMCs are often part of larger complexes that cross state lines and international borders and they have the increasing ability to take on unprecedented health care. Now they are large employers, economic engines and the critical elements of strategies to develop new ideas and technologies for the future and they are accountable for the healthcare for most Americans.”
The lengthening reach of academic medical centers is helping to break down big data siloes that have restricted large-scale precision medicine research efforts in the past. As AMCs expand their involvement in care delivery and forge stronger relationships with community providers, they can gather more data more quickly while recruiting top-flight investigators to turn that data into insights.
“The best minds must be brought to bear on the best data, no matter where those people happen to live or where the data happens to be stored,” Califf stated. “It can be tempting to wall-off data, protecting it as one does a garden. But just as the ‘walled garden’ was a failed model for the internet in the 1990s, the walled garden is a failed model for the data needed for precision medicine to succeed.”
The recently announced results of a study from Geisinger Health System and Regeneron Pharmaceuticals speaks to the importance of sharing data across organizational lines. Published in the journal Science, the DiscovEHR study of more than 50,000 patients identified 176,000 genetic variants likely to result in loss of gene function.
Researchers at Geisinger and the Regeneron Genetic Center (RGC) used de-identified electronic health record data from patients participating in the Geisinger MyCode Community Health Initiative to study gene inactivation.
Approximately 3.5 percent of individuals had known or predicted gene variants that could produce negative results.
While the patient data remains anonymous to RGC researchers, Geisinger has started to return this information to patients, informing close to 200 individuals about genetic mutations that could result in higher risk of common conditions, including cancer and cardiovascular disease.
"This is an important step forward for precision medicine," said David J. Carey, PhD, Professor and Chair of Molecular and Functional Genomics at Geisinger and co-author of the paper.