New study highlights the work of biobank at the Colorado Center for Personalized Medicine

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A new peer-reviewed study in the American Journal of Human Genetics highlights the work of the biobank at the Colorado Center for Personalized Medicine (CCPM), a world-class site for precision medicine in research and clinical care created in partnership with the University of Colorado Anschutz Medical Campus and UCHealth.

The paper focuses on CCPM's research and personalized medical care.

We're one of the only institutions in the world that has accomplished the dual-purpose of using genetic information to accelerate scientific discovery in research while providing actionable clinical results to patients that can lead to preventative measures for diseases or inform on potential medication reactions."

Chris Gignoux, PhD, MS, the paper's senior author, professor of Biomedical Informatics at CU Anschutz and the Director of Research for CCPM

The center recently hit a major milestone of returning clinical genetic results to over 30,000 patients. This makes it a leader in providing personalized patient care, care tailored to someone's genetic makeup. The center has over 235,000 participants enrolled in their biobank with active enrollment available to any patients in the UCHealth system. The collaboration between CU Anschutz Medical Campus and UCHealth through CCPM represents a true genomic learning health system, leading in local and global efforts to advance genomic medicine.

"CU Anschutz's strong partnership with UCHealth positions us to bring genetics to the point of care, delivering personalized medicine at a large scale. This enables us to translate research insights directly into clinical applications, all on one campus," said Casey Greene, PhD, Interim Director of CCPM and inaugural Chair of the Department of Biomedical Informatics at CU Anschutz.

The center has been able to notify and provide recommendations on care for patients who have variants in genes that put them at increased hereditary risk for breast cancer, ovarian cancer risk, or cardiac-related conditions, to name a few.

They are also studying pharmacogenomics, or how genetic variations influence an individual's response to medications, and providing results to patients and doctors to guide drug selection and dosing. This is especially important in oncology, psychiatry, cardiology, and other fields where individual responses to medications can vary widely.

"By releasing pharmacogenomic results into the medical record even before a biobank participant may need one of the affected drugs means that if and when they do need treatment their healthcare providers can identify the best medication or dose for them immediately," said co-first author Laura Wiley, PhD, MS, associate professor of Biomedical Informatics and Chief Data Scientist of Health Data Compass at CU Anschutz, highlighting the work of a team led by Christina Aquilante, PharmD, CCPM's Director of Pharmacogenomics and a professor of Pharmaceutical Sciences at CU Anschutz.

At the same time, the biobank at CCPM is available to the University of Colorado (CU) experts for basic, translational and clinical research across a range of both acute and chronic conditions. CU faculty are conducting studies on the architecture of common cardiovascular, immune, metabolic and anthropometric traits, where genetics may play a significant role in developing disease.

Over the next few years, CCPM hopes to expand their clinical and genomic data by increasing the number of participants to the hundreds of thousands. Through CCPM initiated efforts and collaborations with national and international partners facilitated by CCPM resources, the center hopes to discover novel insights to inform targeted, personalized strategies to continue to improve health outcomes.

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