Biobank participants voluntarily enroll into our research study through MyHealthConnection, UCHealth’s electronic health record (EHR) patient access portal. Patients can also enroll at e-check in for appointments at UCHealth. After consenting to be part of our research study, a participant’s blood or saliva sample is obtained 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 then genotyped. Genotyping of the first 34,000 participants’ blood samples used a custom Infinium Multi-Ethnic Global Array SNP chip (MEGA, Illumina, Inc.). Genotyping of all other participants’ samples uses whole exome sequencing and/or a custom chip.

Genotype data will be used for three purposes:

1. 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 be shared with the researcher(s) unless appropriate permission to do so has been obtained (through COMIRB).
2. Clinically actionable genetic test 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.
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 and CAP accredited for high-complexity testing and is subject to all applicable clinical laboratory regulations and guidelines.

Blood samples undergo DNA extraction and are then genotyped. Genotyping of the first 34,000 participants’ blood samples used a custom Infinium Multi-Ethnic Global Array SNP chip (MEGA, Illumina, Inc.). Genotyping of all other participants’ samples uses whole exome sequencing and/or a custom chip. 

As of December 2021, the first 34,000 samples have undergone genotyping. Genotyping provides four types of genetic information:

(1) pharmacogenetic (PGx) information describing variations in genes that may impact how a medication works in the body (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.

No.  Clinicians 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 embedded clinical decision support (CDS) tools into UCHealth’s EHR to notify clinicians of gene-drug interactions at the time of prescribing, when relevant pharmacogenetic results have been returned.

CCPM is in the process of developing ways to inform clinicians of other types of genetic test results.  Check the results page for more updates.