Overview of the Biobank
The Colorado Center for Personalized Medicine (CCPM) is a multi-institutional collaboration between the University of Colorado, UCHealth, CU Medicine and Children’s Hospital Colorado that was established in 2015. The CCPM began collecting blood samples for its Biobank in 2015 and has enrolled over 87,000 participants to date. Once a blood sample is obtained, biospecimens undergo DNA extraction and genotyping. To date, the first 23,000 biospecimens have undergone genotyping. We are recruiting Biobank participants with the goal of improving our understanding of how genomic differences impact development and management of disease.
Questions about Enrollment
Biobank participants voluntarily enroll into our research study through My Health Connection: UCHealth’s electronic health record patient access portal. After consenting to be part of our research study, the participant’s blood sample is obtained during the patient’s next blood draw at a UCHealth clinic or hospital.
Researchers studying the link between genes and disease can request access to a participant’s sample through a formal request process. Identifying information about the patient will not be shared with the researcher(s).
Our Institutional Review Board (COMIRB) at the University of Colorado will govern the investigators running the study and the project. You can call COMIRB with questions at 303-724-1055.
The Biobank follows all federal laws and regulations for protecting patients’ privacy. The Biobank is required to protect the privacy of collected information. A unique and secured code is assigned to each sample and the patient’s identifying information (such as name, DOB, SSN, etc.) is removed from the sample. The Biobank maintains a secured link back to the patient’s medical record to allow for possible re-contact in the future. However, this information is private and not shared with researchers.
Yes, consents can be withdrawn at any time by calling the patient hotline at 303-724-9944 or emailing CCPM-Biobank@ucdenver.edu.
No. Providers will not be notified when their patients enroll in the Biobank, as the patient is consenting to be part of a research study. However, a provider may be notified about his or her patient’s genetic test results if that patient consents to have his or her results released.
Questions about Results
Once a blood sample is obtained, biospecimens undergo DNA extraction and genotyping using Illumina’s MEGA SNP chip. To date, the first 10,000 biospecimens have undergone genotyping. Genotyping can provide three kinds of genetic information: (1) genetic variations that impact how a person metabolizes certain medications (for example, Clopidogrel); (2) mutations in 59 genes, which are known to or expected to confer disease risk. Click here for the list of 59 gene variants; and (3) genetic variations that occur throughout the genome that can be useful for studying the genetic underpinnings of disease. The first two kinds of genetic information could yield results that are clinically meaningful, while the third is the foundation of research into the genetic contributions to disease.
If a significant result is found with genotyping, participants who initially consented to donate a blood sample to the Biobank will be contacted to complete a second consent to release their genetic test results. The Colorado Center for Personalized Medicine is currently in the process of developing a plan for how results will be communicated to participants and their providers, when appropriate.
In order to return results to a participant, he or she must complete a second consent form agreeing to receive their results. Initially, we will be returning genetic results that may impact medication use, also called pharmacogenetics. In fall 2018, we plan to start returning results for a single drug-gene pair (see below for more information). The Colorado Center for Personalized Medicine is currently developing a process for returning other clinically significant genetic test results over the next year. Please check back frequently for updates.
Before results can be provided to a participant or his/her provider, that participant must sign a second consent form agreeing to receive their results. At this time, we are beginning the process of returning results. In fall 2018, we plan to start returning results for a single drug-gene pair (see below for more information). The Colorado Center for Personalized Medicine is currently developing a process for returning other clinically significant genetic test results over the next year. Please check back frequently for updates.
If a participant asks you for help, please have them contact the Biobank for help (see Contact Us below).
If you have any questions about a test result in the electronic health record, please contact us here.
In October 2018, the Center will offer results for a single drug-gene pair to 100 participants. In order to receive this result, a participant must complete a second consent form agreeing to receive their results. If a participant consents for results, the results will be delivered to the participant’s electronic health record if the results can be used in a specific clinical setting. All physicians and staff members who could be involved in this process have received extensive education. If you have a patient that receives results and you have any questions, please contact us here.
Questions about Results from the CCPM Biobank
The Colorado Center for Personalized Medicine (CCPM) is currently returning CYP2C19 genetic results to CCPM Biobank participants. In order to receive a CCPM Biobankpharmacogenetic test result, a participant must sign a clinicalconsent form agreeing that results can be placed in his or her electronic health record (EHR). After this consent form is signed, results for only the CYP2C19 genetic test result will be placed into a participant’s EHR and sent to him or her via UCHealth’s My Health Connection patient portal. Other pharmacogenetic test results will be released in a step-wise approach. Please check back frequently for updates.
No. However, CCPM has begun embedding clinical decision support (CDS) into UCHealth’s EHR to notify providers if they prescribe certain medications metabolized by CYP2C19 and the patient has a known variation in the CYP2C19 gene altering his or her metabolism in a clinically-actionable way. As of March 2019, CDS is only available for a single drug-gene pair: clopidogrel-CYP2C19 for patients with acute coronary syndromes undergoing percutaneous coronary intervention (ACS/PCI).
Please note that not all medications are metabolized by CYP2C19. For medications that are metabolized by CYP2C19, variations in the CYP2C19 genemay not have the same impact on the metabolism for all medications, or may affect medication metabolism in an indication-specific manner.
If you are provider and would like detailed information about clopidogrel-CYP2C19 and EHR clinical decision support, click here.
The Colorado Center for Personalized Medicine is in the process of educating providers throughout Colorado about the Biobank, participant recruitment and future plans about the return of results. Check back to our website frequently for further updates.
Further Information & Contact
If a patient has a question about the project, please direct them to our patient hotline (303-724-9944), email address (CCPM-Biobank@ucdenver.edu), or website for more information.
Encourage patients to learn more about the program! Direct them to this website (cobiobank.org) to learn more about the research we do, exciting developments in personalized medicine and for more information about the Biobank.