Biobank Discovery Helps Participant Take Preventive Action Against Breast Cancer Risk
A Colorado Center for Personalized Medicine (CCPM) biobank participant is sharing her story to highlight the life-changing impact of genetic screening and personalized medicine.
Kristine Ortiz, a UCHealth employee and mother of a young son, had no known family history of breast cancer when she enrolled in the CCPM biobank and elected to receive information about genetic findings. Through the biobank's genetic screening program, Ortiz learned she carries a BRCA2 gene mutation, which significantly increases the risk of breast and ovarian cancer.
After receiving counseling and follow-up testing, Ortiz chose to undergo a preventive double mastectomy and encouraged family members to pursue genetic testing. Several relatives, including her mother, were also found to carry the BRCA2 variant, allowing them to make informed healthcare decisions.
Ortiz's experience illustrates how the CCPM biobank not only advances research but also returns actionable genetic results to participants who choose to receive them. Since its launch in 2015, the biobank has collected more than 200,000 samples, supported over 200 research studies, and returned medically significant genetic findings to thousands of participants, helping identify risks for cancer, heart disease, and other conditions before symptoms appear.
"This is the reason we share this information with people," said CCPM genetic counselor Emily Todd. "Then they can take the right steps, inform their families, and, if they do develop one of these conditions, we catch it early."
Ortiz credits the biobank with changing how her family approaches healthcare and empowering them to take preventive action. Her story demonstrates the potential of precision medicine to improve lives through early detection, informed decision-making, and family health awareness.
Read the full story on UCHealth Today.
The takeaway:
CU Anschutz is building a precision medicine platform that uses patient-derived tumor organoids to help identify personalized treatments for rare cancers. Led by Alice Soragni, PhD, the initiative aims to move organoid testing from the research laboratory into a validated clinical assay, meaning physicians can use the information to make decisions about patient care and guide treatment decisions.
How genetic testing for inherited cardiomyopathies can be lifesaving, emphasizing that many heart muscle diseases have genetic causes that often go undetected. After Zach Zemljak’s father learned through a biobank study that he carried a dangerous FLNC gene mutation, Zach was tested and found to already have serious but previously silent dilated cardiomyopathy. Early detection allowed doctors to treat him with medications, an implanted defibrillator, and lifestyle changes before a potentially fatal arrhythmia occurred. The family’s story underscores the importance of genetic screening for people with a family history of heart failure or sudden cardiac death, as early intervention can dramatically improve outcomes. Learn more at uchealth.org/services/biobank.
Personalized medicine is rapidly becoming part of everyday health care, helping clinicians tailor treatments based on a patient’s unique genetic makeup.
The Colorado Center for Personalized Medicine (CCPM) biobank—one of the largest in the nation—drives this innovation by analyzing donated blood and saliva samples to uncover genetic risks and guide medication decisions.
Through its partnership between UCHealth and CU Anschutz, the biobank has delivered more than one million pharmacogenomic (PGx) results, helping patients receive the right medication and dose the first time. In addition, CCPM has returned over 1,000 actionable genetic findings related to inherited risks for cancer, heart disease, and rare conditions—empowering earlier detection, prevention, and personalized care.
With more than 275,000 participants and 110,000 patients receiving clinical results, the CCPM biobank is transforming how health care is delivered by bringing genetic insights directly to the point of care. Learn more at uchealth.org/services/biobank.
UCHealth’s Biobank at the Colorado Center for Personalized Medicine has reached a major milestone, delivering over 1 million pharmacogenetic results that help tailor treatments to individual patients. These insights reveal how genetics influence medication effectiveness and side effects, enabling safer, more personalized care. The program is already transforming lives, like that of patient Jim Jensen, whose genetic results led to life-saving changes in his treatment plan.
The Colorado Center for Personalized Medicine’s biobank has returned over 1 million pharmacogenetic results to more than 92,000 Coloradans, helping personalize medication based on genetic profiles. This initiative, a partnership between UCHealth and the University of Colorado Anschutz Medical Campus, uses blood and saliva samples to uncover how individuals process medications, aiming to reduce side effects and improve treatment outcomes. The biobank has also identified five new gene-drug interactions and provided insights into hereditary disease risks, empowering patients like Jim Jensen to make informed, preventive health decisions based on their DNA.
Dr. Christina Aquilante, a leader in pharmacogenomics at the University of Colorado, is transforming how medications are prescribed by using patients’ genetic information to guide drug therapy. As Director of Pharmacogenomics at the Colorado Center for Personalized Medicine (CCPM), she integrates genetic data into electronic health records to help clinicians tailor treatments more effectively.
Her work with the CCPM biobank has led to over one million pharmacogenetic results being returned to UCHealth’s system, advancing safer, more personalized care. Through her research and leadership, Aquilante is helping make genetic testing a standard tool in optimizing medication for individual patients.
Jim Jensen suffered a heart attack in 1994 after taking a migraine medication, later discovering that his unique genetic makeup causes poor drug metabolism. Through UCHealth’s biobank program, which sequences patient DNA to identify drug-gene interactions, Jensen learned that several commonly prescribed medications could be harmful to him. This personalized approach to medicine has helped him recover from recent surgery and advocate for broader participation in genetic screening to improve individual healthcare outcomes.
A multidisciplinary collaboration is recommended to facilitate the use of CYP2C19 genotype–guided antiplatelet therapy in patients with cardiovascular and cerebrovascular diseases. Evolving clopidogrel pharmacogenetic evidence necessitates thoughtful iteration of implementation efforts and strategies to optimize long-term maintenance and sustainability. Read the Americal Journal of Health-System Pharmacy journal article here: https://academic.oup.com/ajhp/article/81/12/555/7585304
This summer marks the third graduating class of the Personalized and Genomic Medicine Graduate Certificate Program at the University of Colorado Anschutz Medical Campus and the largest yet with 19 students, nearly double the two previous classes.
“Clinicians who receive this training can personalize their care to individual patients in a way that many have not been trained to do,” says Elizabeth Kudron, MD, MPH, FAAP, assistant professor of biomedical informatics and co-director of the program.
With this training, physicians may be able to order and interpret genetic tests, which can be especially helpful in environments where access to a genetics specialist is limited.
Latest class of the Personalized and Genomic Medicine Grad Certificate Program
The Center for Personalized Medicine has around 230,000 patients in its biobank, and it recently crossed the 50,000 mark for patients receiving clinically relevant genetic results.
“Everybody always says, ‘This is so cool, it’s the future of medicine,’” said Dr. Christina Aquilante, the director of pharmacogenomics at the Center for Personalized Medicine. “It’s not the future. It’s the now. It’s happening.”
The Center for Personalized Medicine is a collaboration between the University of Colorado School of Medicine, UCHealth and Children’s Hospital Colorado. It was formed in 2014 and began enrolling patients into the biobank the following year.
The hope is that the collaboration can serve a number of purposes, from improving patient care to also providing new data for research on the links between genetic variation and health conditions. In addition to the work identifying gene-drug interactions, results uploaded to the biobank can also help spot if a patient has a rare gene-driven condition before it’s too late.
Blood test patients can consent to Biobank. The Biobank is a partnership between UCHealth and the University of Colorado at Anschutz Medical Campus.
Crooks emphasized that although the Biobank‘s data is used for research, it is a federally-accredited clinical genetic testing laboratory that returns crucial genetic results to participants who have consented to have their DNA studied.
Pharmacogenomics is advancing quickly: we can warn prescribers in the EHR when patients have genomic variants that reduce medication effectiveness. We are going from screening populations (18,000 so far), to anticipatory screening for high risk patients (cancer center patients about to choose a chemotherapy).
Fueling AI in health care: a center for AI innovation
Progress in all of these areas is being made on the University of Colorado Anschutz Medical Campus and at UCHealth. The Aurora campus is home to the Center for Health AI and the CU Department of Biomedical Informatics, both committed to harnessing the power of medical data in the service of driving innovation to improve patient care.
Pharmacists at the Skaggs School of Pharmacy and Pharmaceutical Sciences are leading the charge in the field of pharmacogenomics with their knowledge of how genetics influence how drugs work in the body.