Frequently Asked Questions

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 participant electronic health record data and blood samples for its Biobank in 2015 and has enrolled over 100,000 participants to date. Blood samples collected from our participants undergo DNA extraction and genotyping in the CLIA-certified CCPM Biobank Laboratory. As of August 2019, the first 30,000 blood samples have undergone genotyping. We are recruiting Biobank participants with the goal of improving our understanding of how genetic differences impact people’s health and the development and management of disease.

Questions about Enrollment

CCPM Biobank participants voluntarily enroll into our research study through UCHealth’s electronic health record patient access portal My Health Connection. After consenting to be part of our research study, a participant’s blood sample is obtained with an additional blood tube collection during the participant’s next blood draw at a UCHealth clinic or hospital. Participants are also consenting to give the study access to their electronic health record so that their health information may be used for research. 

Blood samples undergo DNA extraction and are genotyped using a custom Infinium Multi-Ethnic Global Array SNP chip (MEGA, Illumina, Inc.).

Genotype data will be used for three purposes:

1.    Clinically actionable results found for individual participants will be returned to participants, if they consent to receive them. Please see the results section for a detailed explanation of the results participants may receive. 

2.    Researchers studying the link between genes, health and disease can request access to a participant’s health data, genotype data and/or DNA sample through a formal request process. Identifying information about the patient will not usually be shared with the researcher(s).

 

3.    In the future, we hope to return ancestry information to participants, if they wish to receive it.

The Colorado Multiple Institutional Review Board (COMIRB) at the University of Colorado governs the research study and the investigators running the study. You can contact COMIRB with questions at 303-724-1055.

 

The CCPM Biobank Laboratory is CLIA-certified for high-complexity testing and is subject to all applicable clinical laboratory regulations and guidelines.

The CCPM Biobank follows all federal laws and regulations for protecting patients’ privacy. The Biobank is required to protect the privacy of collected information.  

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 they are 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 results returned to his or her electronic health record (EHR).

Questions about Results

Blood samples undergo DNA extraction and are genotyped using a custom Infinium Multi-Ethnic Global Array SNP chip (MEGA, Illumina, Inc.).

As of August 2019, the first 30,000 biospecimens have undergone genotyping.  Genotyping provides four types of genetic information: (1) pharmacogenetic (PGx) information describing variations in genes that impact how a person metabolizes certain medications (for example, clopidogrel); (2) variations in genes, which are known to or expected to confer disease risk; (3) genetic variations that identify participants as being a “carrier” of a disease (like cystic fibrosis) and (4) genetic variations that occur throughout the genome that can be useful for studying the genetic underpinnings of health and disease. The first three types of genetic information could yield results that are clinically meaningful and may be returned to the participant, while the fourth is the foundation of research into the genetic contributions to health and disease.

 

PLEASE NOTE: The CCPM Biobank does not intend or expect genotyping results to be comprehensive or a substitute for a visit to a geneticist, genetic counselor, or healthcare provider. CCPM Biobank results are not intended to be used as a substitute for individualized testing for symptoms and/or a family history of a genetic disease.

If a result is found when genotyping their sample, participants will be re-contacted to complete a clinical consent form to return their results to their electronic health record (EHR). After a participant signs the clinical consent, results that are currently available for release will be placed into his or her EHR and sent to the participant via the My Health Connection online patient portal. Results will be released in a step-wise approach.  Please see the timeline question below for further information. 

In order to return CCPM Biobank genetic test results to a participant, he or she must complete a clinical consent form agreeing to have results returned to his or her electronic health record (EHR). In fall 2018, we began returning select pharmacogenetic (PGx) results that may impact medication use. At this time, we are returning results for participants’ CYP2C19 genotype (click here for more information*). The CCPM is currently developing a process for returning other clinical genetic test results. Please check back frequently for updates.

For more information about the results currently being returned by the CCPM Biobank, please click here

We are just beginning the process of returning results. In fall 2018, we started returning results for participants’ CYP2C19 genotype. Please click here for more information. Currently, providers will not be notified when their patient has a Biobank genetic test result returned to his or her electronic health record (EHR). 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). 

The CCPM is also developing ways to inform providers of incidental genetic test results.

If a participant asks you for help, please have them contact the CCPM Biobank (see Contact Us below).

For more information on CCPM Biobank genetic test results being returned to patients, please click here.  If you have any questions about a Biobank genetic test result in the electronic health record, please contact us here

The CCPM Biobank pharmacogenetic (PGx) test provides valuable insight into how a patient may respond to certain medications. To see an example of what this report looks like in the electronic health record with detailed explanations of each area of the report, please click here.

The Colorado Center for Personalized Medicine (CCPM) is currently returning CYP2C19 genetic results to CCPM Biobank participants. In order to receive a CCPM Biobank pharmacogenetic test result, a participant must sign a clinical consent 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 August 2019, clinical decision support is available for Clopidogrel prescribed to patients with acute coronary syndromes undergoing percutaneous coronary intervention (ACS/PCI) or Voriconazole prescribed for treatment or prophylaxis of serious fungal infections.

Please note that not all medications are metabolized by CYP2C19. For medications that are metabolized by CYP2C19, CYP2C19 genotype does not impact outcomes for all medications to the same extent, or does so in an indication-specific manner.

If you are a provider and would like detailed information about clopidogrel-CYP2C19 and EHR clinical decision support, click here.

If you are a provider and would like detailed information about voriconazole-CYP2C19 and EHR clinical decision support, clear here

For general information about CYP2C19click here.

Future Plans

The CCPM is in the process of educating providers around Colorado about the CCPM Biobank, participant recruitment, and future plans for the return of results.  Check our website frequently for further updates.

Further Information & Contact

If a patient has a question about the CCPM Biobank, please direct them to our patient hotline (303-724-9944), email address (CCPM-Biobank@ucdenver.edu), or our website for more information.

Encourage patients to learn more about the program! Direct them to this website to learn more about the research we do, exciting developments in personalized medicine and for more information about the Biobank.

Click here to head to our Contact Us page.

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