EAIN-2419 (Study Team)

Currently, there are 60 laboratories providing clinical genetic testing services for diagnostic and preventive purposes across North America. The technological advances have stimulated scientific and medical fields to look for opportunities to bring the knowledge into clinical setting.  To accelerate the pace, President Obama announced a $215 million investment in the President’s 2016 Budget to support Precision Medicine Initiative (PMI) and advance toward a new era of individualized treatment (Source: White House Press Office)

“I want the country that eliminated polio and mapped the human genome to lead a new era of medicine — one that delivers the right treatment at the right time...Tonight, I’m launching a new Precision Medicine Initiative to bring us closer to curing diseases like cancer and diabetes — and to give all of us access to the personalized information we need to keep ourselves and our families healthier.” — President Barack Obama, State of the Union Address, January 20, 2015

So, what is the concept of Precision Medicine?  “We define precision medicine as treatments targeted to the needs of individual patients on the basis of genetic, biomarker, phenotypic, or psychosocial characteristics that distinguish a given patient from other patients with similar clinical presentations.” (Source: NIH) As stated on the NIH website, “Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.” (Source: NIH) The initiative was developed under the leadership of Dr. Francis Collins, Director of the NIH, who first proposed the idea in 2004 and has advocated for this program for 11 years.

“Now there is a perfect coming together of opportunities with electronic health records being a part of medical care. Genome sequencing costs have plummeted (down to a few thousand dollars for a complete genome), and now patients want to take part in initiatives of this sort.” (Source: Medscape)

As expected, the importance of Precision Medicine has been acknowledged and highlighted by Dr. Selby, the Executive Director of PCORI in multiple occasions:

“This is an exciting time for "precision" or "personalized" medicine, with recent proposals from the White House and Congress to advance this important approach to creating more tailored treatments for various conditions. We're pleased to see these efforts because the comparative clinical effectiveness research (CER) that PCORI was created to fund is a natural complement to them. Precision medicine focuses on developing new treatments that leverage genetic information and other factors that affect how well therapies work for different people…..Tailoring treatment choices requires information on factors such as patients' genetic make-up, but also their age, other illnesses, capacity for adhering to complex treatment regimens and, perhaps most important, their preferences for different strategies and outcomes.” (Source: The PCORI Digest)

There are several publicly available resources dedicated to collecting both genetic and clinical information (also known as repositories). The existence of such repositories further shows a high level of interest and investments made by research community and participating patients. Despite the availability of rich repositories such information has not been applied to address questions related to CER.

• eMERGE: One of the existing rich resources is the Electronic Medical Records and Genomics (eMERGE) Network. eMERGE is a NIH-organized and funded consortium of U.S. medical research institutions and currently includes 11 sites. This network (Source: eMERGE) combines DNA biorepositories with electronic medical record (EMR) from a large number of patient participants (current number of subjects in the network: 55,028). Vanderbilt University is eMERGE coordinating center and we will have a representative (Dr. Olivia Veatch) from this center on our Community Advisory Board (CAB). She will inform the research team and the CAB about the eMERGE initiative and its potential application for conducting CER related studies.
• PCORI funded initiatives: The PCORI-funded Greater Plains Collaborative (GPC) is another valuable resource. The GPC is a Clinical Data Research Network of 10 leading medical centers merging clinical outcomes data into a standardized query system to support comparative effectiveness research studies. Given the considerable amount of existing biobank in the collaborative sites, as part of the GPC initiative, the biobank core and committee is being developed. One of our research team members, Dr. James McClay, is the GPC investigator in charge of the biobank coordination. His team is currently working with PCORI, to enhance the standardization of data throughout PCORI funded outcomes research. Dr. McClay will inform the research team and the CAB about the existing PCORI resources, including the GPC initiative.