NEW YORK – The Coriell Personalized Medicine Collaborative Study informed participants yesterday that the decade-long project has stopped enrollment.
The Coriell Institute for Medical Research, located in Camden, New Jersey, launched CPMC in December 2007 to study the impact of genome-informed treatment on medical care. The study at the time was among the first to explore how genetic information on disease risks and drug response could be responsibly returned to individuals, alongside information about their family and own medical history of illness, and study whether this information impacted their behavior, healthcare, and outcomes.
The project built a web portal for collecting self-reported data from participants and for communicating results, had an oversight board to help determine which actionable results to return to participants, and provided genetic counseling. This was a novel design for a research study when CPMC was launched. Since then health systems, commercial companies, research institutes, and even the US government have launched similar studies with the goal of exploring the impact of genetic testing on population health.
In the early days of CPMC, the project leaders had said the goal was to enroll 10,000 participants, and it had inked partnerships with universities and other groups with ambitions to collectively enroll 100,000 participants. GenomeWeb reported in 2009 that the project had already enrolled 4,000 participants and had hoped to reach the full 10,000 participant goal by the following year.
A spokesperson for the Coriell Institute said that the project has enrolled more than 7,000 participants over 10 years, with the last participants recruited last year. There are currently 5,000 active participants in the study. "There was some natural fall off in activity from participants, especially as one funding stream ended and not all of those participants opted to remain active," the spokesperson said. "The goal of 10,000 was ambitious, and while we did not quite reach it, we're proud that so many did see the value and shared our passion for the project."
Enrollment for CPMC was always intended to run for a decade, noted the spokesperson, and the money raised from various sources was budgeted accordingly so that the resources from the last funding round would take the project to the end of the recruitment phase in 2018. "Coriell is currently funding the research and we are always looking at new grants and partnerships to support the work," the spokesperson said.
On Christmas 2017, the institute also lost the leadership of Michael Christman, who had been president and CEO of the institute before his death and had launched CPMC.
In winding down recruitment, the CPMC research team informed participants via email that they will be able to access their genetic test reports through the online portal and receive genetic counseling until Dec. 15. During this time the project will provide technical assistance to participants who want to download or print their test results for future reference.
Over the years, CPMC has published numerous studies based on the data collected from participants. With the growing popularity of commercial consumer genomics services and the launch of population health studies like Geisinger Health's MyCode placing additional pressures on genetic counselors' time, CPMC researchers explored whether participants with chronic diseases preferred in-person or telephone counseling and found more people chose the latter. Importantly, the study also showed that getting counseling via telephone or in person with a counselor didn't impact participants' disease risk awareness or recall of test results.
CPMC also contributed to pharmacogenetics research and pioneered a system for evaluating which gene-drug associations were ready for implementation into patient care. For example, researchers developed a process, called PhAESIS (Pharmacogenomics Appraisal, Evidence Scoring and Interpretation System), which was used by Coriell's oversight committees to review the evidence on PGx variants and decide whether to report them to CPMC participants.
The system considered information in FDA drug labeling, in the published literature, and in PGx databases, such as PharmGKB. PhAESIS also measured of how severe an impact a genotype has on drug response, the availability of alternative drugs in a particular setting, and drug usage statistics nationally and within the study cohort.
CPMC also partnered with the US Air Force and recruited military personnel into the study. This allowed researchers to explore best approaches for conducting genomic research in this population, sharing clinically significant genomic information with military researchers, and reporting results to participants.
Although CPMC is halting recruitment, CPMC researchers will continue to analyze the data for new insights. "Researchers at Coriell, together with national and international collaborators, maintain ongoing efforts to utilize CPMC data for research questions involving personalized medicine," a spokesperson said.